Poems by children as patient-reported outcomes.
Dev Med Child Neurol. 2012 Jan;54(1):52-3
Authors: Livingston JH, Morrall MC
PMID: 22133193 [PubMed - indexed for MEDLINE]
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Poems by children as patient-reported outcomes.
Dev Med Child Neurol. 2012 Jan;54(1):52-3
Authors: Livingston JH, Morrall MC
PMID: 22133193 [PubMed - indexed for MEDLINE]
Prevalence of JC polyomavirus genomic sequences from the large T-antigen and non-coding control regions among Bulgarian patients with primary brain tumors.
J Med Virol. 2011 Sep;83(9):1608-13
Authors: Tsekov I, Ferdinandov D, Bussarsky V, Hristova S, Kalvatchev Z
Abstract
A total of 111 fresh brain biopsies from patients with primary brain tumors were examined for JC polyomavirus sequences from the Large T antigen encoding region (LT) and the viral non-coding control region (NCCR). SYBR Green and TaqMan real-time polymerase chain reaction assays were used. In the glioblastoma group of 39 patients 48.7% were positive for LT sequences. Among the astrocytoma group (19 patients) and the oligodendroglioma group (12 patients) 31.6% and 33.3% were also positive. The prevalence of LT genomic sequences among the other groups was as follows: in 2 out of 3 oligoastrocytomas; in 3 out 5 gangliogliomas; in 2 out of 5 meduloblastomas; in 1 out 3 pineocytomas; and in none of the tested 5 ependimomas. All positive samples had a late threshold cycle that varied from 36 to 49, indicative of very low starting viral number. Only 21 of all the 111 samples were positive for NCCR. Low copy number in range of 10-1,000 was present. Notably, only 8 of all NCCR positive specimens were also LT positive. It might be suggested that the disproportion between the results for LT and NCCR is either due to clonally integrated LT fragments, with loss of genetic material, or changes in the NCCR. The latter would alter the productive course of the infection and may establish a premise for continuous interaction of viral regulatory proteins with cell molecules that are responsible for the control of the cell cycle. This may lead subsequently to malignant transformation.
PMID: 21739452 [PubMed - indexed for MEDLINE]
Anaplastic oligodendroglioma with ganglioglioma-like maturation.
Brain Tumor Pathol. 2012 Jan 11;
Authors: Tanaka Y, Nobusawa S, Yagi S, Ikota H, Yokoo H, Nakazato Y
Abstract
Neuronal differentiation of oligodendroglioma has been demonstrated by immunohistochemical and ultrastructural examinations in recent studies. However, oligodendrogliomas displaying a complete neurocytic morphology or even gangliocytic differentiation are rare. We describe a case of anaplastic oligodendroglioma that was characterized by the presence of ganglion cells in a 40-year-old-male. Histologically, the tumor was mainly composed of classical oligodendroglioma cells. The most exceptional finding of this tumor was the presence of ganglion cells and intermediate-sized ganglioid cells. Immunohistochemical analysis revealed that these cells were positive for Olig2 and negative for glial fibrillary acid protein (GFAP). Synaptophysin and microtubule-associated protein 2 (MAP2) were mainly detected in the ganglion cells. Fluorescence in situ hybridization analysis (FISH) revealed the deletion of the 1p and 19q chromosome arms in both the oligodendroglioma cells and ganglion cells. The R132H mutated isocitrate dehydrogenase 1 (IDH1) protein was detected by immunohistochemistry and direct DNA sequencing. The morphological, immunohistochemical, and genetic features of the tumor suggested a diagnosis of anaplastic oligodendroglioma, and this tumor was considered to be a rare form of oligodendroglioma displaying ganglioglioma-like maturation. FISH and mutant IDH1 examinations are useful diagnostic tools for the differential diagnosis of this tumor, i.e., ganglioglioma with anaplastic oligodendroglial features.
PMID: 22231405 [PubMed - as supplied by publisher]
Composite ganglioglioma/dysembryoplastic neuroepithelial tumor: a clinicopathologic study of 8 cases.
Hum Pathol. 2012 Jan 3;
Authors: Prayson RA, Napekoski KM
Abstract
Ganglioglioma and dysembryoplastic neuroepithelial tumor are both low-grade glioneuronal neoplasms that most commonly occur in association with chronic epilepsy. Rare cases of tumors with composite features of ganglioglioma and dysembryoplastic neuroepithelial tumor have been reported. We retrospectively reviewed the clinicopathologic features of 8 composite tumors (7 were female; median age, 20 years). All patients had chronic epilepsy and had tumors in either the temporal or the frontal lobe. Six patients are currently seizure-free (follow-up: median, 90 months). All tumors were multinodular. Some nodules had distinct features of each tumor type (range, 5%-85% of the tumor). Seven tumors contained nodules with mixed features of both tumor types. Five of 7 evaluable tumors demonstrated adjacent focal cortical dysplasia (Palmini type I). Mitotic activity, vascular proliferation, or necrosis was not observed in any of the tumors. Three tumors demonstrated focal meningeal extension. Composite tumors commonly arise in the temporal lobe in young patients with chronic epilepsy; they appear to behave as a World Health Organization grade I neoplasm. Histologically, these multinodular tumors appear to maintain distinct areas with features of each tumor and foci where the 2 patterns are merged. A subset of composite tumors are associated with adjacent focal cortical dysplasia.
PMID: 22221701 [PubMed - as supplied by publisher]
Seizure outcome with surgical management of epileptogenic ganglioglioma: a study of 55 patients.
Acta Neurochir (Wien). 2012 Jan 5;
Authors: Hu WH, Ge M, Zhang K, Meng FG, Zhang JG
Abstract
BACKGROUND: Ganglioglioma is a common seizure-associated tumor, and some factors that may influence the postoperative seizure outcome have not been discussed or are controversial. The goal of this study was to observe the postoperative seizure outcome and the prognostic factors in patients with epileptogenic gangliogliomas. METHODS: In this retrospective study, 55 patients with epileptogenic gangliogliomas underwent surgery. Postoperative seizure outcome during follow-up was recorded, and possible postoperative prognostic factors were analyzed. RESULTS: There were 30 males and 25 females in our study. Twenty patients presented with chronic seizures. The mean age at surgery was 19.39 years, and the mean seizure duration prior to surgery was 4.47 years. Forty-three patients had complex partial seizures, 12 patients had simple partial seizures, and secondary generalization occurred in 18 patients. Brain magnetic resonance imaging (MRI) revealed 32 tumors were located in the temporal lobe and 23 in the extratemporal lobes. Intraoperative electrocorticography (ECoG) and intraoperative ultrasound (IOUS) were used in 42 and 11 patients, respectively. Gross total resection of the tumor was achieved in 42 patients (1 patient underwent reoperation), subtotal resection in 11, and partial resection in 2. Simple lesionectomy and tailored epilepsy surgery were performed in 24 and 31 patients, respectively. After a mean follow-up of 3.27 years, 48 patients, including 1 re-operated patient, were seizure free (Engel class I). None of the factors, including age at surgery, seizure duration prior to surgery, the type of seizures, use of intraoperative ECoG and IOUS, extent of tumor resection, and surgical strategy, proved to be significantly correlated with postoperative seizure outcome. CONCLUSIONS: Surgical treatment is effective and safe for patients with epileptogenic gangliogliomas. Early surgical intervention is necessary for achieving early seizure control. Neither intraoperative ECoG nor IOUS necessarily leads to better seizure control, although the latter can be helpful in achieving complete tumor resection. Simple lesionectomy is sufficient for favorable postoperative seizure outcome.
PMID: 22218910 [PubMed - as supplied by publisher]
Papillary glioneuronal tumors: a review of clinicopathologic and molecular genetic studies.
Am J Surg Pathol. 2011 Dec;35(12):1794-805
Authors: Myung JK, Byeon SJ, Kim B, Suh J, Kim SK, Park CK, Chung CK, Chang KH, Park SH
Abstract
This study was designed to evaluate 4 new cases of papillary glioneuronal tumors (PGNTs), 2 of which had atypical histologic features, provides extensive IHC characterization, performed comparative genomic hybridization in 2 of our cases, and reviews the recent literature. The study group comprised 3 women and 1 man, with ages ranging from 12 to 75 years. Patients presented with seizures (n = 3) or muscle spasm (n = 1), and the tumors were located in the supratentorial region of the brain (3 in the frontal and 1 in the parietotemporal lobe). The 2 atypical tumors showed a moderately high mitotic rate (4 and 7/10 HPF, each), vascular endothelial hyperplasia, and necrosis. Tumor cells expressed both neuronal and glial markers, but the degree of neuronal versus glial expression was varied. None of the tumors expressed p53, EGFR wild type/vIII, IDH1, or CD34; however, nestin, galectin-3, and S100 were positive in the tumor cells. No EGFR gene amplification or 1p/19q deletion was found by fluorescence in situ hybridization. Half of the cases revealed PTEN loss by immunohistochemistry, and MGMT methylation was positive in 3 cases by MGMT methylation-specific polymerase chain reaction. Ultrastructurally, either astrocytic or neuronal differentiation was observed, but we could not identify any hybrid cells. An array-based comparative genomic hybridization study revealed loss of 1q, 6p, 8p, 9p, 9q, and 16q and gain of 2q, 3p, 5q, 6p, 7q, 10q, 16q, 19p, and 22q in 2 cases simultaneously. The first patient, who underwent subtotal resection, died because of progression of the tumor within 9 months after surgery; however, 2 patients were symptom free and progression free at 34 and 48 months after gross total resection (the patient 2: plus radiotherapy, the patient 3: no adjuvant chemo- or radiotherapy). The last patient developed seizures after a long symptom-free period (40 mo) with no evidence of tumor recurrence. Our 4 new cases, in conjunction with the literature review, reinforce that PGNTs are tumors that usually occur in young adults (mean age, 24 y); they are most often cystic with a mural nodule or are cystic/solid, supratentorial, closely located with the ventricle, molecularly genetically different from astrocytic or oligodendroglial tumors, and indolent in behavior. Cases (2 of 4 in our study) with atypical histologic features or that occur in advanced age (75 y), and sporadic reports of histologically or biologically aggressive PGNTs, serve to remind pathologists that the full spectrum of PGNTs is as yet unknown.
PMID: 22020040 [PubMed - indexed for MEDLINE]
Glioneuronal tumor with neuropil-like islands of the spinal cord with diffuse leptomeningeal neuraxis dissemination.
J Neurooncol. 2011 Sep;104(2):529-33
Authors: Ruppert B, Welsh CT, Hannah J, Giglio P, Rumboldt Z, Johnson I, Fortney J, Jenrette JM, Patel S, Scheithauer BW
Abstract
A 54-year-old Caucasian female presented with a 1 year history of intermittent numbness of the left leg progressing to bilateral, lower extremity sensory loss that advanced to include impaired vibration and proprioception. The subsequent thoracic spine magnetic resonance imaging (MRI) scan revealed a heterogeneous, avidly enhancing, centrally situated spinal cord mass involving T7 through T10 in association with thick linear enhancement of the anterior and posterior cord surfaces extending both superiorly and inferiorly. Both the cervical and lumbar spine MRI demonstrated diffuse leptomeningeal disease as well. A brain MRI revealed focal leptomeningeal enhancement in the left and right sylvian fissures, the suprasellar cistern, and the posterior fossa; a pattern consistent with metastatic disease. The patient underwent a T6-T10 laminectomy for tumor biopsy and debulking. Histology revealed a WHO grade III glioneuronal tumor with rosetted neuropil-like islands. Synaptophysin and neurofilament (NF) positive staining was noted within the neural appearing component, whereas, glial fibrillary acidic protein (GFAP) immunopositivity was evident in the fibrillary astrocytoma component of the tumor. The Ki-67 labeling index was 7%. This tumor pattern, now included in the 2007 World Health Organization (WHO) classification of central nervous system tumours as a pattern variation of anaplastic astrocytoma (Kleihues et al. In: Louis et al. (eds) WHO classification of tumours of the central nervous system, 2007), was first described in a four-case series by Teo et al. in 1999. The majority of subsequently reported cases described them as primary tumors of the cerebrum. Herein, we report a unique example of a spinal glioneuronal tumor with neuropil-like islands with associated leptomeningeal dissemination involving the entire craniospinal axis.
PMID: 21188469 [PubMed - indexed for MEDLINE]
Association between cavernous angioma and cerebral glioma. Report of two cases and literature review of so-called angiogliomas angio¬.
Neurocirugia (Astur). 2011 Dec;22(6):562-6
Authors: Gazzeri R, De Bonis C, Carotenuto V, Catapano D, d'Angelo V, Galarza M
Abstract
The association between vascular malformations and cerebral gliomas is unusual. While the association bet¬ween cavernous angioma with gliomatous lesions is even more rare, it is considered by certain authors to be a particular pathological entity termed angioglioma. The authors report on two cases of association of a cavernous angioma with a ganglioglioma and an oligodendroglioma respectively. Subsequent review of the literature on the so-called angiogliomas was conducted. In the author's opinion, the entity of angiogliomas represents a gene¬ral spectrum of angiomatous neoplasms that include gliomatous tumors, in the majority low-grade gliomas, associated with a major vascular component.
PMID: 22167287 [PubMed - in process]
Rosette-forming glioneuronal tumor of the fourth ventricle with bilateral olivary degeneration.
Jpn J Radiol. 2011 Jul;29(6):445-8
Authors: Fushimi Y, Miyasaki A, Taki H, Aoyama K, Hirato J, Kanagaki M, Togashi K
Abstract
Rosette-forming glioneuronal tumor (RGNT) of the fourth ventricle has been recognized as a new type of glioneuronal tumor. RGNTs are typically located in the infratentorial midline with involvement of the fourth ventricle. They occasionally involve the aqueduct and/or vermis. RGNTs of unusual anatomical sites or those with unusual findings have been reported. The present case reports describe RGNT of the fourth ventricle with bilateral olivary degeneration. It is important to accumulate imaging findings and biological behaviors of RGNTs given the limited number of cases.
PMID: 21786101 [PubMed - indexed for MEDLINE]
Rosette-forming glioneuronal tumor of the fourth ventricle with advanced microvascular proliferation--a case report.
Neuropathology. 2011 Aug;31(4):427-32
Authors: Matyja E, Grajkowska W, Nauman P, Ozieblo A, Bonicki W
Abstract
Rosette-forming glioneuronal tumor (RGNT) of the fourth ventricle is a recently described novel type of primary brain tumor that was included into the current WHO classification of CNS tumors. It is a very rare, slowly growing, mixed neoplasm at cerebellar localization with distinctive morphological pattern. We present an unusual case of a 20-year-old patient with RNGT of the fourth ventricle with advanced microvascular proliferation. MRI revealed the solid-cystic tumor mass largely involving the cerebellar vermis and left hemisphere with compression of the fourth ventricle. Microscopically, the tumor showed classical architectural pattern with two distinctive components. The main component consisted of neurocytic rosettes formed by round, isomorphic nuclei arranged around eosinophilic, fibrillar cores with strong synaptophysin expression. The perivascular rosettes with cell arrangement along blood vessels were observed only sporadically. The second neoplastic component consisted of spindle or stellate astroglial cells with piloid process and Rosenthal fibers, strongly resembling pilocytic astrocytoma. Focally, the astroglial cells showed increased cellularity but without marked nuclear atypia. The glial part of the tumor revealed advanced proliferation of microvessels. The vessels of glomeruloid type exhibited multilayered endothelial proliferation and marked mitotic activity. MIB1 labelling index was generally low; however, in areas exhibiting microvascular proliferation its expression was significantly increased up to 20%. This report demonstrates the unique case of RGNT with conspicuous microvascular proliferation of glomeruloid type and extensive endothelial proliferation. As there is still limited clinical experience with RGNT, further studies are necessary to evaluate the biology of this type of tumor.
PMID: 21092064 [PubMed - indexed for MEDLINE]
Correlation among magnetic resonance imaging findings, prognostic factors for survival, and histological diagnosis of intrinsic brainstem lesions in children.
J Neurosurg Pediatr. 2011 Dec;8(6):539-43
Authors: Dellaretti M, Touzet G, Reyns N, Dubois F, Gusmão S, Pereira JL, Blond S
Abstract
Object The aim of this study was to compare MR imaging characteristics with histopathological findings of intrinsic brainstem lesions and also to show the prognostic factors in patients with diffuse brainstem glioma. Methods Between February 1988 and August 2007, 44 brainstem biopsies were performed at the Roger Salengro Hospital in Lille, France, in children with intrinsic brainstem lesions not amenable to excision. Twenty-six were female and 18 male, and the mean age was 6 years. Results Histological evaluation revealed diffuse brainstem glioma in all patients with diffuse nonenhancing brainstem lesions. Diffuse brainstem glioma was found in 18 patients (90%) with diffuse enhancing brainstem lesions. Pathological entities different from diffuse glioma were verified in 2 patients (10%)-1 with ependymoma and 1 with ganglioglioma. In 4 of 5 patients with a focal nonenhancing brainstem lesion, the histopathological diagnosis was diffuse low-grade glioma. In 6 of 10 patients with focal enhancing brainstem lesion, the diagnosis was diffuse brainstem glioma, and pathological entities different from diffuse brainstem glioma were verified in 2 (20%), both with pilocytic astrocytoma. The mean 1-year actuarial survival rates for patients classified with low-grade and high-grade glioma were 80.4% ± 0.08% and 48.6% ± 0.14%, respectively. Conclusions The impact of stereotactic biopsy on intrinsic brainstem lesions was greater in patients with MR imaging-documented enhancing lesions in whom the diagnosis of diffuse glioma was less frequent. Patients with low-grade glioma seem to have longer survival than those with high-grade glioma.
PMID: 22132909 [PubMed - in process]
Surgical Treatment of Brain Tumors in Infants Younger Than Six Months of Age and Review of the Literature.
World Neurosurg. 2011 Nov 7;
Authors: Lang SS, Beslow LA, Gabel B, Judkins AR, Fisher MJ, Sutton LN, Storm PB, Heuer GG
Abstract
OBJECTIVE: Brain tumors are rare in infants who are younger than six months of age. These tumors can be challenging to treat surgically. We analyzed a modern series of patients treated by a multidisciplinary team at a tertiary care center and performed a literature review of this unique population. METHODS: Retrospective clinical data were collected for patients surgically treated for intracranial mass lesions at The Children's Hospital of Philadelphia from 1998 to 2007. Dermoid cysts and other skull-based lesions were excluded from the analysis. RESULTS: Sixteen patients younger than six months of age underwent surgery for primary intracranial mass lesions. The median age of the patients at surgery was 5.2 months (range, 1.4-6 months of age). Children most often presented with a bulging fontanelle, hydrocephalus, or macrocephaly (seven patients). Vomiting was seen in five patients, cranial nerve palsies in one patient, and seizures in three patients. All patients had tumor resections and postoperatively were monitored in the intensive care unit. The final pathology consisted of atypical teratoid/rhabdoid tumor (three patients), primitive neuroectodermal tumor/medulloblastoma (three patients), choroid plexus papilloma (two patients), astrocytoma (two patients), ganglioglioma (two patients), desmoplastic infantile ganglioglioma (two patients), glioblastoma multiforme (one patient), and choroid plexus carcinoma (one patient). Two intraoperative deaths occurred. Of the surviving 14, a gross total resection was achieved in four. Adjuvant therapy was determined by a multidisciplinary team composed of neuro-oncology, neurosurgery, and radiation oncology. Seven patients were treated with chemotherapy, and one patient had proton beam therapy. Five-year overall survival was 45%. The eight surviving patients had neurological sequelae, and developmental outcome was variable. CONCLUSIONS: Brain tumors are uncommon in children younger than six months of age. Patients present with a variety of tumor pathologies. Children who survive have neurological sequelae. More studies are necessary to understand the impact that different treatment options, tumor pathology, and tumor location have on neurological outcome.
PMID: 22120270 [PubMed - as supplied by publisher]
Atypical Teratoid/Rhabdoid Tumor Arising in a Ganglioglioma: Genetic Characterization.
Am J Surg Pathol. 2011 Nov 10;
Authors: Kleinschmidt-Demasters BK, Birks DK, Aisner DL, Hankinson TC, Rosenblum MK
Abstract
Atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon, aggressive, embryonal pediatric brain tumor that almost always develops de novo and does not arise within, or evolve from, other brain tumor types. Although rhabdoid morphology can be seen in other tumor types, these are phenotypic mimics and, with only rare exceptions, do not manifest the INI-1 deletion at the 22q11.2 locus or the INI-1 nuclear protein loss that characterizes AT/RT. A few reports of AT/RT evolving from a low-grade ganglioglioma (GG) or pleomorphic xanthoastrocytoma have appeared. We present the case of a 6-year-old boy with a large right parietal mass whose tumor at initial presentation manifested 2 distinct components: GG with neoplastic neurons, low MIB-1 rate, and retention of INI-1 nuclear immunostaining (immunohistochemical) and, second, AT/RT with rhabdoid cells, polyphenotypic immunohistochemical expression, high MIB-1 rate, and loss of INI-1 nuclear expression. The 2 areas were separately assessed by fluorescence in situ hybridization for monosomy 22; monosomy 22 was identified in the AT/RT component but not in the GG areas. BRAF V600E mutation, a genetic abnormality seen in a significant percentage of pleomorphic xanthoastrocytomas and GGs, was assessed by polymerase chain reaction and identified in the tumor. Dual abnormalities of INI-1 loss and V600E BRAF mutation were identified in a cell culture line established from cerebrospinal fluid metastatic tumor cells. This cell line exhibited extremely rapid growth rate and rhabdoid morphology. Results suggest a postclonal modification in a subset of GG cells, with acquisition of INI-1 loss, confirming by biological methods what was previously suspected in rare reports of AT/RT evolving from other tumor types.
PMID: 22082607 [PubMed - as supplied by publisher]
Vagus nerve stimulation in the treatment of patients with pharmacoresistant epilepsy: our experiences.
Coll Antropol. 2011 Sep;35(3):755-60
Authors: Hajnsek S, Petelin Z, Poljaković Z, Mrak G, Paladino J, Desnica A
Abstract
Vagus nerve stimulation (VNS) for the treatment of refractory partial epileptic seizures with or without secondary generalisation in patients older than 12 years was approved in Europe in 1994 and in the United States in 1997. We have studied the efficacy of VNS in patients with pharmacoresistant epilepsy hospitalized in the Neurology Department of the University Hospital Centre Zagreb. From 1997 to 2001 we have implanted VNS in 11 patients with pharmacoresistant epilepsy, who were magnetic resonance imaging (MRI) negative and from May 2007 to May 2009 in 11 patients with pharmacoresistant epilepsy, 9 of them were MRI positive, and were inoperable due to localisation of the pathomorphologic changes (ganglioglioma, hamartoma, various types of cortical dysplasia, porencephalic cysts), 2 were MR negative. In the group of MRI negative patients 1 patient had complex partial seizures (CPS), 6 patients had CPS with secondary generalisation, 2 patients had primary generalized epilepsy (PGE) including myoclonic, absence, atonic and tonic-clonic seizures, one patient had PGE and CPS, and 3 patients had Lennox-Gastaut syndrome (LGS). In the group of MRI positive patients one patient had elementary partial seizures (EPS) and CPS, two patients had EPS and CPS with secondary generalisation, one patient had CPS, 3 patients had CPS with secondary generalisation, and 2 patients had CPS with secondary generalisation as well as atonic seizures. After continuous follow-up of 11 MRI negative patients during 5 years and 2 MRI negative patients during one year there was decrease in mean-seizure frequency of 51.67%. After continuous follow-up of 9 MRI positive patients during 2 years there was decrease in mean-seizure frequency of 61.9%. The most frequent side effects were hoarseness, throat pain and cough in the "on phase" of the VNS, but they were mild and transitory. We can conclude that VNS was effective mode of therapy in our group of patients with pharmacoresistant epilepsy.
PMID: 22053552 [PubMed - in process]
Ganglioglioma of the Thoracolumbar Spinal Cord in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review.
Pediatr Neurosurg. 2011 Oct 27;
Authors: Hayashi Y, Nakada M, Mohri M, Murakami H, Kawahara N, Hamada JI
Abstract
Gangliogliomas of the spinal cord are rare, and the conus medullaris is an extremely rare site for their occurrence. The authors present a case in which a ganglioglioma was found in the thoracolumbar spinal cord, including the conus medullaris, of a 5-year-old female patient with neurofibromatosis type 1 (NF1) who presented with paraparesis and urinary disturbance. MRI revealed an intramedullary lesion within the thoracolumbar spinal cord, including the conus medullaris, which was surgically removed. Pathological investigation showed a ganglioglioma consisting of glioneuronal tumor cells. This is the first report to provide a pathological description of a spinal cord ganglioglioma in a patient with NF1. Because gangliogliomas usually have a good prognosis following resection, it is important to clearly distinguish them from other NF1-associated lesions, even though ganglioglioma of the thoracolumbar spinal cord, including the conus medullaris, is an extremely rare condition.
PMID: 22041518 [PubMed - as supplied by publisher]
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Meriden Record-Journal The grueling months he spent training at Baran's Kenpo Karate on North Plains Industrial Road are nothing compared to his day-to-day battle with ganglioglioma, a rare brain tumor in his left temporal lobe that often causes seizures. |
![]() WFTV Orlando |
WFTV Orlando Miles For Hope will hold its Moving Towards a Cure® Brain Tumor 5K Awareness Run/Walk on Saturday, February 11, 2011 at 9 am at Harbor Park on Lake Baldwin in Orlando, FL. Proceeds will fund pediatric brain tumor research and provide travel assistance ... |
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NJ.com Lad was a fourteen year brain cancer survivor. Lad was born in Newark and lived in Irvington and Cranford before moving to Bridgewater 38 years ago. Lad attended the Pratt Institute School of Art and Design in Brooklyn, and served in the Air National ... |
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India.Com Health Feb 4 is World Cancer Day 2012. A new technique diagnoses brain tumours non-invasively, eliminating the need for surgery in patients whose tumours are located in areas too dangerous for biopsy. The new magnetic resonance spectroscopy (MRS) technique ... |
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News-Medical.net Jim Black is fighting the meanest, most aggressive, most common kind of brain tumor in the United States: recurrent glioblastoma multiforme (GBM). In the United States, each year, approximately 10000 patients are affected by GBM. and more » |
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Bradenton Herald /PRNewswire/ -- Tocagen Inc. today announced the publication of data showing the company's investigational treatment for high grade glioma eradicates brain tumors and provides a dramatic survival benefit in mouse models of glioblastoma. and more » |
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HealthCanal.com Santosh Kesari, MD, PhD, director of Neuro-Oncology at UC San Diego Moores Cancer Center. Jim Black is fighting the meanest, most aggressive, most common kind of brain tumor in the United States: recurrent glioblastoma multiforme (GBM). and more » |
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Science Daily (press release) 3, 2012) — Jim Black is fighting the meanest, most aggressive, most common kind of brain tumor in the United States: recurrent glioblastoma multiforme (GBM). In the United States, each year, approximately 10000 patients are affected by GBM. and more » |
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PhysOrg.com (press release) Tocagen Inc. today announced the publication of data showing the company's investigational treatment for high grade glioma eradicates brain tumors and provides a dramatic survival benefit in mouse models of glioblastoma. Almost all mice receiving the ... and more » |
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Science Codex SAN DIEGO -- Tocagen Inc. today announced the publication of data showing the company's investigational treatment for high grade glioma eradicates brain tumors and provides a dramatic survival benefit in mouse models of glioblastoma. and more » |
![]() Science Codex |
Science Codex Jim Black is fighting the meanest, most aggressive, most common kind of brain tumor in the United States: recurrent glioblastoma multiforme (GBM). In the United States, each year, approximately 10000 patients are affected by GBM. and more » |
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EurekAlert (press release) SAN DIEGO -- Tocagen Inc. today announced the publication of data showing the company's investigational treatment for high grade glioma eradicates brain tumors and provides a dramatic survival benefit in mouse models of glioblastoma. and more » |
![]() San Francisco Bay Area Today |
San Francisco Bay Area Today By Nancy Meyer Commonly used in many Eastern countries, turmeric has been found to suppress cancer growth and reduce brain tumors by an astounding 81% without evidence of toxicity. While the benefits of turmericare just coming to light within the ... and more » |
![]() PhysOrg.com (press release) |
PhysOrg.com (press release) This is Santosh Kesari, MD, Ph.D., director of Neuro-Oncology at UC San Diego Moores Cancer Center. Credit: UC San Diego School of Medicine Jim Black is fighting the meanest, most aggressive, most common kind of brain tumor in the United States: ... and more » |
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Palm Beach Post "Let's get a win tonight," Carter said again and again, shaking hands with each of the players that an aggressive form of brain cancer has kept him from leading these past nine torturous months. Never in his brief few minutes with the team did the grin ... and more » |
![]() Chicago Tribune |
Chicago Tribune The cancer, whose causes are unknown, had already engulfed most of the right hemisphere of Matthew's brain. Only about five children nationally are born with such a rare, usually fatal, condition each year, his doctors said. "Why him? |
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Sacramento Bee 2, 2012 -- /PRNewswire/ -- Commonly used in many Eastern countries, turmeric has been found to suppress cancer growth and reduce brain tumors by an astounding 81% without evidence of toxicity. While the benefits of turmeric are just coming to light ... and more » |
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Patch.com The East Cobb restaurant is holding an auction next Thursday to benefit a 6-year-old girl with a rare form of brain cancer. Efforts to help raise money for a young girl stricken with a rare form of brain cancer are being taken up by an East Cobb ... |
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ABC 57 News A 13-year-old from Niles is at IU Health in Bloomington right now getting radiation treatment for numerous brain tumors. Aaron Stovall, 13, went to the eye doctor 2 1/2 years ago because he was suffering from bad headaches. |
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Newark Post Grundner previously served as the Director of Community Relations for the National Brain Tumor Society (NBTS) in Delaware after merging the brain tumor organization he founded, The Kelly Heinz-Grundner Brain Tumor Foundation (KHG), with NBTS in March ... |
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SYS-CON Media (press release) 2, 2012 /PRNewswire/ -- Commonly used in many Eastern countries, turmeric has been found to suppress cancer growth and reduce brain tumors by an astounding 81% without evidence of toxicity. While the benefits of turmeric are just coming to light within ... and more » |
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DigitalJournal.com (press release) 2, 2012 /PRNewswire/ -- Commonly used in many Eastern countries, turmeric has been found to suppress cancer growth and reduce brain tumors by an astounding 81% without evidence of toxicity. While the benefits of turmeric are just coming to light within ... and more » |
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MarketWatch (press release) 2, 2012 /PRNewswire via COMTEX/ -- Commonly used in many Eastern countries, turmeric has been found to suppress cancer growth and reduce brain tumors by an astounding 81% without evidence of toxicity. While the benefits of turmeric are just coming to ... and more » |
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dailyRx The most common cancerous brain tumor is also among the most aggressive cancers. Current therapies usually don't treat glioblastoma multiforme. So new treatment answers are desperately needed. Researchers have discovered a potential therapeutic target ... |
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MiamiHerald.com By DAVID OVALLE David Paulus, a career Miami-Dade prosecutor who spearheaded public corruption, narcotics and money laundering investigations, died Tuesday of brain cancer. A father of three, Paulus was 46. Most recently, Paulus served as the head of ... and more » |
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msnbc.com “As a brain-tumor survivor, I lost so many of the loves I had, like reading and writing and mathematics,” said Wagner, 56, who had two cancerous, pear-sized tumors removed from her brain in separate surgeries in 2002. “My visual journal became ... and more » |
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Winter Park/Maitland Observer For more information on this year's walk/run, go to tinyurl.com/moving-towards-a-cure About 28000 children in the US are living with the diagnosis of a primary brain tumor, according to the Pediatric Brain Tumor foundation. |
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GenomeWeb Daily News Sage Science is pleased to announce the introduction of the BluePippin DNA size selection system, a pulsed-field electrophoresis version of its popular Pippin Prep instrument. In this video, we speak with Todd Smith, senior leader of research and ... and more » |
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EurekAlert (press release) Glioblastoma multiforme (GBM) is the most common of all malignant brain tumors that originate in the brain. Patients with GBM have a poor prognosis because it is a highly aggressive form of cancer that is commonly resistant to current therapies. |
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Huffington Post When I was 10 years old, my friend Sydney was diagnosed with a brain tumor. Sydney fought against it, but the tumor did not respond to treatment, and could not be surgically removed. The mass wrapped around her brainstem, the area of the brain that ... and more » |
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Huffington Post (blog) When I was 10 years old, my friend Sydney was diagnosed with a brain tumor. Sydney fought against it, but the tumor did not respond to treatment, and could not be surgically removed. The mass wrapped around her brainstem, the area of the brain that ... and more » |
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ThirdAge A brain tumor in a young child is rare but deadly, and little is known about its genetic origins. A new study published in the journal Nature Genetics, however, presents new evidence about gene mutations that can cause a particular type of tumor that ... |
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San Francisco Chronicle (press release) The American Brain Tumor Association (ABTA) has named Aubrey Bonhivert, second year medical student at The Ohio State University, as the recipient of the 2011 Lucien Rubenstein Award. The ABTA's distinguished Scientific Advisory Council deemed ... and more » |
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HealthCanal.com Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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Standard Freeholder COM CORNWALL — Though local motorcyclists will once again have the chance to ride to benefit brain cancer research, the cross-country expansion of the fundraiser will have to wait until next year. Paul Poirier, organizer of the annual Bikers Against ... |
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CBS Local Miles Austrevich has a rare form of brain cancer, and his father says they've been fighting it with meds, chemotherapy and radiation. Now, as CBS 2's Mai Martinez reports, they're fighting it with humor. Every week or so, Miles Austrevich checks into ... and more » |
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DOTmed.com Dr. Melvin Field, Director of the Florida Hospital Minimally Invasive Brain Surgery Program and Surgical Director of the Florida Hospital Neuroscience Institute, performed the case on December 19, 2011 involving a resection of a pituitary tumor in an ... and more » |
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Sacramento Bee 31, 2012 -- /PRNewswire/ -- Henry Ford Hospital's Hermelin Brain Tumor Center is the first US hospital to start a new clinical trial for Toca 511 & Toca FC, a combination therapy under investigation for high-grade glioma (HGG), a fast growing, ... and more » |
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Washington University in St. Louis News Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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Sacramento Bee Dr. Melvin Field, Director of the Florida Hospital Minimally Invasive Brain Surgery Program and Surgical Director of the Florida Hospital Neuroscience Institute, performed the case on December 19, 2011 involving a resection of a pituitary tumor in an ... and more » |
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DigitalJournal.com (press release) Henry Ford Hospital's Hermelin Brain Tumor Center is the first US hospital to start a new clinical trial for Toca 511 & Toca FC, a combination therapy under investigation for high-grade glioma (HGG), a fast growing, brain cancer that often recurs even ... and more » |
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PR Web (press release) Henry Ford Hospital's Hermelin Brain Tumor Center is the first US hospital to start a new clinical trial for Toca 511 & Toca FC, a combination therapy under investigation for high-grade glioma (HGG), a fast growing, brain cancer that often recurs even ... and more » |
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News-Medical.net Glioblastomas grow extremely aggressively into healthy brain tissue and, moreover, are highly resistant to radiation therapy and chemotherapy. Therefore, they are regarded as the most malignant type of brain tumor. Currently available treatment methods ... and more » |
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Gainesville Sun The University of Florida has received a $10 million donation intended to improve understanding of the causes of brain tumors and lead to better treatments. UF officials announced Monday that the Fort Lauderdale-based Lillian S. Wells Foundation made ... and more » |
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Gainesville Sun The University of Florida has received a $10 million donation intended to improve understanding of the causes of brain tumors and lead to better treatments. UF officials announced Monday that the Fort Lauderdale-based Lillian S. Wells Foundation made ... and more » |
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Biology News Net (press release) Glioblastomas grow extremely aggressively into healthy brain tissue and, moreover, are highly resistant to radiation therapy and chemotherapy. Therefore, they are regarded as the most malignant type of brain tumor. Currently available treatment methods ... and more » |
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Insciences Organisation Glioblastomas are regarded as particularly aggressive brain tumors. In children with glioblastoma, Heidelberg scientists have now discovered genetic alterations that affect the function of DNA packaging proteins known as histones. and more » |
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The Bay City Times - MLive.com Auburn — Randy Lee, 54-year-old father and husband, was recently diagnosed with brain and kidney cancer. To help with the cost of medical expenses, a benefit soup dinner is scheduled from 4 to 7 pm on Monday, Feb. 6 at Knights of Columbus Hall, ... |
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ABC News (blog) A tumor. I didn't want to get too much into a panic.” The mass, a little smaller than a golf ball, was eventually determined to be a brain tumor. After he was referred to a neurosurgeon, Largent said he told his family and friends. “It was a 'Hey, ... and more » |
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Science Codex Glioblastomas grow extremely aggressively into healthy brain tissue and, moreover, are highly resistant to radiation therapy and chemotherapy. Therefore, they are regarded as the most malignant type of brain tumor. Currently available treatment methods ... and more » |
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BioMedReports (subscription) With more than $9.8 million in funding from Genome BC and other partners, they aim to develop laboratory tests to determine which type of brain cancer the child suffers from in order to more accurately classify the tumours for treatment. and more » |
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University of Florida A $10 million gift from the Lillian S. Wells Foundation Inc. to the University of Florida department of neurosurgery will help medical scientists better understand the causes of brain tumors and lead to effective treatments and improved quality of life ... and more » |
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Memphis Commercial Appeal By Tom Charlier A rare and usually fatal type of childhood brain tumor can be traced to mutations in genes that previously were not suspected of triggering cancer, scientists based in Memphis and St. Louis reported Sunday. The findings about the tumor, ... and more » |
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Vero Beach Press-Journal (subscription) They took Christopher to Indian River Medical Center, where tests showed he was suffering from a brain tumor. Since then, Christopher, now a 9-year-old third grader, has undergone three surgeries, radiation and continued chemotherapy. |
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Memphis Commercial Appeal By Tom Charlier A rare and usually fatal type of childhood brain tumor can be traced to mutations in genes that previously were not suspected of triggering cancer, scientists based in Memphis and St. Louis reported today. The findings about the tumor ... and more » |
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Science Daily (press release) Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital -- Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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Science Codex Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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NEWS.GNOM.ES (press release) Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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Bradenton Herald Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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HealthCanal.com Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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Newswise (press release) Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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Sacramento Bee Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important ... and more » |
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abc7.com LOS ANGELES (KABC) -- Art and science are coming together this weekend for a unique film festival called Neuro-Cinema to educate the public about the brain. Justine Cogan of Silver Lake just had a brain tumor removed last week. and more » |
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NewsChannel 9 WSYR Her Camillus family was preparing to say goodbye to their baby girl, whose brain was riddled with a rare and deadly tumor. And yet, this Sunday, Sophia Gettino will celebrate her 16th birthday. Doctors never thought Gettino would live to see her second ... |
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Bradenton Herald /PRNewswire-USNewswire/ -- Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in ... and more » |
![]() Medical Daily |
Medical Daily Benham Badie, MD, director of the Department of Neurosurgery and the Brain Tumor program at City of Hope. (City of Hope/ NASA) Benham Badie, MD, director of the Department of Neurosurgery and the Brain Tumor program at City of Hope. |
![]() Eureka! Science News |
Eureka! Science News Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in patients whose tumors are ... and more » |
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Science Daily (press release) 26, 2012) — Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in patients whose ... and more » |
![]() Science Codex |
Science Codex 26, 2012 – Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in patients whose ... and more » |
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Bioscience Technology Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in patients whose tumors are ... and more » |
![]() mediabistro.com |
mediabistro.com By Andrew Gauthier on January 27, 2012 11:57 AM Popular KOMO anchor Kathi Goertzen is undergoing another round of surgery to reduce the size of a brain tumor she's been battling for over a decade. Goertzen recently underwent an MRI and doctors ... and more » |
![]() Seattle Post Intelligencer (blog) |
Seattle Post Intelligencer (blog) Beloved Seattle news anchor Kahy Goertzen posted on Facebook Thursday that her brain tumor is growing, and that doctors want to operate again. She wrote: “Doctor saw some tumor growth so wants to do surgery.. again! Will keep you posted when. |
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WJBF-TV A Night of Wine and Roses will be held in Aiken to benefit Carley's Rays of Hope, a memorial fund for the Brain Tumor Foundation for Children, Inc. Mary Moore and Scott McMaster stopped by Television (more) A Night of Wine and Roses to benefit Carley's ... and more » |
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HealthCanal.com DALLAS – Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in patients whose ... and more » |
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Suburban Life Publications The organization chose Ellie, of Lemont, who was diagnosed with a brain tumor last year, as their next recipient for a fundraiser. By Janice Hoppe, jhoppe@mysuburbanlife.com Two Lemont residents with a big sense of community are hoping to help a ... |
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Newswise (press release) 26, 2012 – Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in patients whose ... and more » |
![]() HealthNewsDigest.com |
HealthNewsDigest.com 26, 2012 – Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for surgery in patients whose ... and more » |
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DigitalJournal.com (press release) 26, 2012 /PRNewswire-USNewswire/ -- Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for ... and more » |
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SYS-CON Media (press release) 26, 2012 /PRNewswire-USNewswire/ -- Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for ... and more » |
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MarketWatch (press release) 26, 2012 /PRNewswire via COMTEX/ -- Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need for ... and more » |
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Patch.com The proceeds went toward brain tumor research led by Saint John's neurosurgeon Dr. Daniel Kelly. Guests also had an opportunity to cast their vote for their favorite function of the brain. The choices for favorite brain function were emotion, ... |
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KSDK Physical therapy has become a regular part of life for Janessa Howell since she was diagnosed with a brain tumor late last year. Three weeks earlier her mother, Maria, found out she has lymphoma. "That was devastating for me because I'm in the ... and more » |
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NBC Montana Alisa Hoke's spent the last three years fighting a brain tumor. Alissa turns 18 tomorrow. At 14, she was diaganosed with a non-cancerous, but aggressive brain tumor. She made a youtube video to tell her story, and to send a message to NFL Quarterback ... |
![]() Niles Daily Star |
Niles Daily Star A 5-year-old Niles boy is at home this week recovering from surgery to remove a tumor from his brain. Bailey Bennett, who attends kindergarten at Ellis Elementary in Niles, was diagnosed with a malignant brain tumor on Jan. 17. |
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Local 10 Max Lopez, 14, has a brain tumor and is undergoing radiation therapy. Now he is taking his first trumpet lesson with tutor Brenna Vaz, and is enjoying it. “I've always loved music since I was little,” says Lopez, “I'm really lucky that someone would ... and more » |
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Medical News Today Glioblastoma is the most prevalent and most aggressive malignant brain tumor in humans, and is one of the most resistant to current treatments. Individuals with the disease typically survive around 15 months. Earlier research concentrated on activating ... and more » |
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UAB News By Beena Thannickal A UAB research study on brain tumors has been named one of the top clinical research advances of 2011 by the American Society of Clinical Oncology. Markus Bredel, MD, Ph.D., director of the Radiation Oncology Brain Tumor Laboratory ... |
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The Stir Heather Taylor was diagnosed with breast cancer at 25, and now has a life-threatening brain tumor, which has spread to her spinal cord. But that hasn't stopped her from saying "yes!" to her boyfriend of two years, Jimmy New, who got down on one knee at ... and more » |
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HealthNewsDigest.com By Emory University School of Medicine (HealthNewsDigest.com) - The addition of chemotherapy to radiation therapy nearly doubled median survival time for patients with anaplastic oligodendroglioma, a rare type of brain tumor, containing a genetic ... and more » |
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HealthCanal.com The addition of chemotherapy to radiation therapy nearly doubled median survival time for patients with anaplastic oligodendroglioma, a rare type of brain tumor, containing a genetic abnormality known as the 1p19q co-deletion. The finding, from a phase ... and more » |
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The West Australian By July, Ms Taylor was diagnosed with stage three breast cancer. She underwent multiple rounds of chemotherapy and radiation but several months ago was diagnosed with a brain tumor. After her experience, Ms Taylor started a non-profit charity called ... and more » |
![]() Chicago Tribune |
Chicago Tribune WASHINGTON— — Ted Kennedy had a brain tumor. Joe Biden had two brain aneurysms. Tim Johnson had a rare brain anomaly that led to strokelike symptoms. Lyndon Baines Johnson had a heart attack. The lawmakers, all stricken while in public office, ... |
![]() Globe and Mail |
Globe and Mail Late last May, she described her wish that the next day's biopsy on her father's tumours could be performed in a crowded baseball stadium, rather than in Duke University Medical Center's Preston Robert Tisch Brain Tumor Center. and more » |
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Examiner.com In Lakewood Colorado, Taylor, 26 is a breast cancer survivor. However she has been hospitalized with a life threatening brain tumor. Her boyfriend of two years, Jimmy New has stood beside her throughout all of her medical problems. and more » |
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Bioscience Technology After people with low-grade glioma, a type of brain cancer, undergo neurosurgery to remove the tumors, they face variable odds of survival — depending largely on how rapidly the cancer recurs. Even though their doctors monitor the tumor closely with ... and more » |
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Huffington Post But 26-year-old Heather Taylor's hastily-planned wedding was more poignant and meaningful than most others. According to a CNN report, a year ago, at the age of 25, Taylor was diagnosed with breast cancer. Today, she's also battling brain tumor. and more » |
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dailyRx Researchers have found that an interaction between two proteins may be part of the puzzle in how a rare form of brain cancer develops. Keep an eye on developments in drug research for glioblastoma patients. In his research at The University of Texas ... and more » |
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Newswise (press release) Newswise — After people with low-grade glioma, a type of brain cancer, undergo neurosurgery to remove the tumors, they face variable odds of survival — depending largely on how rapidly the cancer recurs. Even though their doctors monitor the tumor ... and more » |
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Medical Xpress After people with low-grade glioma, a type of brain cancer, undergo neurosurgery to remove the tumors, they face variable odds of survival — depending largely on how rapidly the cancer recurs. Even though their doctors monitor the tumor closely with ... and more » |
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Oncology Nurse Advisor Whereas other treatment approaches mostly target differentiated tumor cells, the ICT-107 vaccine targets the antigens that are present on glioma stem cells. “If the stem cells aren't targeted, they keep generating more tumors,” explained Glenn Lesser, ... and more » |
The Role of Cancer Stem Cells in the Organ Tropism of Breast Cancer Metastasis: A Mechanistic Balance between the "Seed" and the "Soil"?
Int J Breast Cancer. 2012;2012:209748
Authors: Chu JE, Allan AL
Abstract
Breast cancer is a prevalent disease worldwide, and the majority of deaths occur due to metastatic disease. Clinical studies have identified a specific pattern for the metastatic spread of breast cancer, termed organ tropism; where preferential secondary sites include lymph node, bone, brain, lung, and liver. A rare subpopulation of tumor cells, the cancer stem cells (CSCs), has been hypothesized to be responsible for metastatic disease and therapy resistance. Current treatments are highly ineffective against metastatic breast cancer, likely due to the innate therapy resistance of CSCs and the complex interactions that occur between cancer cells and their metastatic microenvironments. A better understanding of these interactions is essential for the development of novel therapeutic targets for metastatic disease. This paper summarizes the characteristics of breast CSCs and their potential metastatic microenvironments. Furthermore, it raises the question of the existence of a CSC niche and highlights areas for future investigation.
PMID: 22295241 [PubMed - in process]
Rare case of a primary non-dural central nervous system low grade B-cell lymphoma and literature review.
Int J Clin Exp Pathol. 2012;5(1):89-95
Authors: Papanicolau-Sengos A, Wang-Rodriguez J, Wang HY, Lee RR, Wong A, Hansen LA, Mahooti S, Rashidi HH
Abstract
We present a case of a 70-year-old HIV negative man with a five-year history of progressive dysnomia and new onset right extremity numbness, dysarthria, and blurry vision. On magnetic resonance imaging (MRI), an infiltrative enhancing tumor was noted. Follow up brain biopsy results revealed a small lymphocytic infiltrate with scattered plasma cells in a predominantly perivascular growth pattern. Flow-cytometric findings revealed a lambda monotypic B-cell population. The morphology and the flow cytometric findings were consistent with involvement by a low grade B-cell lymphoma. Subsequent positron emission tomography (PET) studies along with bone marrow biopsy and serum protein electrophoresis showed no evidence of systemic disease. The above findings are consistent with involvement by a non-dural extranodal marginal zone B-cell lymphoma (MZBCL) primary to the central nervous system (CNS). This is the first reported case of a primary CNS MZBCL with flow cytometric analysis. A review of literature on this rare entity is also included.
PMID: 22295152 [PubMed - in process]
Primary cerebral myxofibrosarcoma: clinical, morphologic, immunohistochemical, molecular, and ultrastructural study of an infrequent tumor in an extraordinary localization.
J Pediatr Hematol Oncol. 2011 Oct;33(7):e279-83
Authors: Buccoliero AM, Castiglione F, Garbini F, Rossi Degl'Innocenti D, Moncini D, Franchi A, Paglierani M, Simoni A, Baroni G, Daniele D, Sardi I, Giordano F, Mussa F, Aricò M, Genitori L, Taddei GL
Abstract
Herein, we describe an intracerebral primary low-grade myxofibrosarcoma occurring in a 9-year-old boy. The lesion measured 7 cm and occupied the left parieto-occipital region. A gross-total removal of the tumor was performed. Nine months later, radiologic follow-up revealed a local recurrence which was again surgically removed. The patient then underwent radiotherapy and chemotherapy. He was well and disease-free at 6 months follow-up. The tumor was composed of spindle, stellated, and multinucleated cells embedded in a myxoid background. Foci of increased cellularity, pleomorphism, and high mitotic rate were present. The tumor borders were sharply demarcated from the non-neoplastic nervous parenchyma. Immunohistochemical staining showed that the neoplastic cells were vimentine and CD34 positive. Fluorescence in-situ hybridization analyses did not show FUS and EWSR1 gene rearrangements. Primary intracranial myxofibrosarcomas are very rare (to the best of our knowledge, less than 10 published cases in the international literature). We believe each new case should be recorded to produce a better clinical, pathologic, molecular, prognostic, and therapeutic characterization of this lesion.
PMID: 21716137 [PubMed - indexed for MEDLINE]
Ultra-small gadolinium oxide nanoparticles to image brain cancer cells in vivo with MRI.
Contrast Media Mol Imaging. 2011 Jul-Aug;6(4):209-18
Authors: Faucher L, Guay-Bégin AA, Lagueux J, Côté MF, Petitclerc E, Fortin MA
Abstract
The majority of contrast agents used in magnetic resonance imaging (MRI) is based on the rare-earth element gadolinium. Gadolinium-based nanoparticles could find promising applications in pre-clinical diagnostic procedures of certain types of cancer, such as glioblastoma multiforme. This is one of the most malignant, lethal and poorly accessible forms of cancer. Recent advances in colloidal nanocrystal synthesis have led to the development of ultra-small crystals of gadolinium oxide (US-Gd(2)O(3), 2-3 nm diameter). As of today, this is the smallest and the densest of all Gd-containing nanoparticles. Cancer cells labeled with a sufficient quantity of this compound appear bright in T(1)-weighted MRI images. Here we demonstrate that US-Gd(2)O(3) can be used to label GL-261 glioblastoma multiforme cells, followed by localization and visualization in vivo using MRI. Very high amounts of Gd are efficiently internalized and retained in cells, as confirmed with TEM and ICP-MS. Labeled cells were visualized in vivo at 1.5 T using the chicken embryo model. This is one more step toward the development of "positively contrasted" cell tracking procedures with MRI.
PMID: 21861281 [PubMed - indexed for MEDLINE]
Common molecular cytogenetic pathway in papillary tumors of the pineal region (PTPR).
Brain Pathol. 2011 Nov;21(6):672-7
Authors: Gutenberg A, Brandis A, Hong B, Gunawan B, Enders C, Schaefer IM, Burger R, Ostertag H, Gaab M, Krauss JK, Füzesi L
Abstract
Primary papillary tumors of the central nervous system and particularly the pineal region are rare. Papillary tumor of the pineal region (PTPR) is a recently described neoplasm that has been formally recognized in the 2007 World Health Organization Classification of Tumors of the Nervous System. Because of their rarity, further pheno- and genotypical observations as well as therapeutic experience are necessary to differentiate PTPR from other primary or secondary papillary tumors of this region. We herein present three cases of PTPR characterized by local recurrence in two of them. Primary and recurrent tumors were analyzed by immunohistochemistry and comparative genomic hybridization (CGH). From our results clonal chromosomal aberrations can be postulated which seem to be a feasible tool to differentiate PTPRs from other primary or secondary papillary tumors of this region.
PMID: 21470326 [PubMed - indexed for MEDLINE]
Human polyomavirus JC reactivation and pathogenetic mechanisms of progressive multifocal leukoencephalopathy and cancer in the era of monoclonal antibody therapies.
J Neurovirol. 2012 Jan 31;
Authors: Bellizzi A, Nardis C, Anzivino E, Rodìo DM, Fioriti D, Mischitelli M, Chiarini F, Pietropaolo V
Abstract
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system caused by the neurotropic human polyomavirus JC (JCV) lytic infection of oligodendrocytes. PML was first described as a complication of lymphoproliferative disorders more than 50 years ago and emerged as a major complication of human immunodeficiency virus (HIV) infection in the 1980s. Despite the ubiquity of this virus, PML is rare and always seen in association with underlying immunosuppressive condition, such as HIV infection, autoimmune diseases, cancer, and organ transplantation. JCV remains quiescent in the kidneys, where it displays a stable archetypal non-coding control region (NCCR). Conversely, rearranged JCV NCCR, including tandem repeat patterns found in the brain of PML patients, have been associated with neurovirulence. The specific site and mechanism of JCV NCCR transformation is unknown. According to one model, during the course of immunosuppression, JCV departs from its latent state and after entering the brain, productively infects and destroys oligodendrocytes. Although the majority of PML cases occur in severely immunesuppressed individuals, PML has been increasingly diagnosed in patients treated with biological therapies such as monoclonal antibodies (mAbs) that modulate immune system functions: in fact, CD4(+) and CD8(+) T lymphopenia, resulting from this immunomodulatory therapy, are the primary risk factor. Furthermore, JCV reactivation in nonpermissive cells after treatment with mAbs, such as intestinal epithelial cells in Crohn's disease patients, in association with other host tumor-inducing factors, could provide valid information on the role of JCV in several malignancies, such as colorectal cancer.
PMID: 22290500 [PubMed - as supplied by publisher]
Anemia and jejunal intussusception: An unusual presentation for a metastatic phyllodes breast tumor.
Int J Surg Case Rep. 2012;3(2):62-4
Authors: Schechet SA, Askenasy EP, Dhamne S, Scott BG
Abstract
INTRODUCTION: Phyllodes tumor of the breast is a rare cause of breast cancer, accounting for less than 0.5% of breast cancers. These tumors are classified as benign, borderline, or malignant, with malignant tumors compromising nearly 25% of cases. Metastases occur in 20% of malignant tumors, lungs, bones, liver and brain being the frequent sites of metastases. PRESENTATION OF CASE: We present a case of a metastatic phyllodes tumor to the small bowel causing jejunal intussusception, symptomatic anemia, and small bowel obstruction.
DISCUSSION: Patients with phyllodes tumor of the breast can develop disease recurrence even years after initial treatment. Phyllodes tumor metastasizing to the small bowel is extremely rare, with only three known previously described case reports in the literature.
CONCLUSION: High risk patients, with a past medical history of phyllodes breast cancer, should be monitored closely. Even years after breast cancer treatment, these patients may present with gastrointestinal complaints such as obstruction or bleeding, and therefore metastatic disease to the small bowel should be considered on the differential with subsequent abdominal imaging obtained.
PMID: 22288047 [PubMed - in process]
Conjunctival amelanotic melanoma--a case report.
Coll Antropol. 2011 Sep;35 Suppl 2:295-7
Authors: Kovacević D, Lukanović-Primc K, Markusić V, Babić MB, Ledić D
Abstract
Conjunctival melanoma is a relatively rare malignancy. It is presented as pigmented nodule in any area of conjunctiva, amelanotic tumors are pink with smooth appearance. The authors describe an amelanotic melanoma of the conjunctiva in an 82-year-old female patient. Cytological, histopathological and immunohistochemical studies revealed an invasive amelanotic melanoma exhibiting S-100 and MART-1 positivity. The patient undervent surgical and chemotherapy treatment and three years after the initial treatment is in the terminal stage of metastatic disease. Absence of pigmentation delayed early clinical detection and treatment. Awareness of this nonpigmented melanoma is crucial for early recognition and appropriate management.
PMID: 22220456 [PubMed - indexed for MEDLINE]
Aggressive multifocal form of epithelioid hemangioendothelioma--case report.
Coll Antropol. 2011 Sep;35 Suppl 2:289-93
Authors: Duletić-Nacinović A, Grohovac D, Dobrila-Dintinjana R, Brncić N, Jonjić N
Abstract
Epithelioid hemangioendothelioma (EHE) is a rare tumor of the vascular origin. It was first described in its pulmonary form by Dail and Leibow in 1975 and named "intravascular bronchioalveolar tumor" (IVBAT). Since then, reports of occurrences of the tumor have been made for number of locations, but most often tumor can be found in soft tissues, liver, lungs, bone and skin. It is considered to be a low or borderline malignant tumor with, usually, slow progression, but aggressive forms have been described. We here report a case of a 46-year old female patient with multifocal malignant tumor spreading to lungs, liver, spleen and with synchronous involvement of lumbal vertebrae, illiac bones and central nervous system dissemination. To the best of the authors knowledge, no case of malignant EHE with multiorgan involvement of this proportions and synchronous central nervous system and bone involvement in one patient has been reported to this date in English-speaking literature.
PMID: 22220455 [PubMed - indexed for MEDLINE]
Pituicytoma with unusual histological features.
Pathol Int. 2011 Oct;61(10):598-602
Authors: Kwon MJ, Suh YL
Abstract
Pituicytoma is a rare low-grade glial neoplasm that originates in the neurohypophysis or infundibulum. Because of its rare occurrence, the morphology and differentiation of pituicytoma have not been fully clarified. Here, we report a case of pituicytoma with unusual histological features mimicking ependymoma, but exhibiting the diverse morphology and differentiation of pituicytoma. The 1.4 cm-sized suprasellar mass was incidentally found in the magnetic resonance image of a 42-year-old Korean woman who had had a traffic accident. Four years later, she presented with symptoms of hypopituitarism and the follow-up images revealed slight enlargement of the mass. After gross total resection, microscopic examination revealed oval to elongated cells with abundant eosinophilic cytoplasm arranged in a perivascular pseudorosette pattern and short interlacing fascicles. Pleomorphic tumor cells and Herring bodies were diffusely distributed within the tumor. Neither Rosenthal fibers nor eosinophilic granular bodies were identified. The tumor cells were immunohistochemically positive for glial fibrillary acidic protein, vimentin and S-100 protein, but negative for synaptophysin and adenohypophyseal hormones. The epithelial membrane antigen and CD99 were expressed with a paranuclear dot-like or membranous pattern in some tumor cells. Ultrastructural examination revealed that the tumor cells with intermediate filaments were closely apposed with intercellular junctions and frequent basal lamina production.
PMID: 21951670 [PubMed - indexed for MEDLINE]
[Nasal dermoïd cyst with intracranial extension: which approach?].
Neurochirurgie. 2011 Jul;57(3):125-8
Authors: Bahloul K, Dhouib M, Chaari I, Abdelmoula M
Abstract
Dermoïd cyst is the most common midline congenital nasal tumor. Intracranial extension is rare but possible, must be suspected and confirmed by a cerebral magnetic resonance imagining (MRI). Only total surgical removal via a combined intracranial/extracranial approach appears to provide a complete resolution and effective protection against late recurrence. We report a case of a 2 years old patient who was operated for a nasal congenital cyst extending to the nasal septum. Anatomopathology showed a dermoïd cyst. Five years later, he presented local recurrence of the dermoïd cyst with intracranial extension through a bifid crista galli. We conclude that to avoid recurrence, the removal of the nasal cyst and sinus tract must be followed to its dural attachment. A transfacial approach can be associated with frontal craniotomy, which can provide adequate exposure for complete removal of the intracranial component of the cyst and sinus tract. A literature review was performed.
PMID: 21899863 [PubMed - indexed for MEDLINE]
Sudden death from diffuse leptomeningeal oligodendrogliomatosis.
J Neurosurg Spine. 2011 Dec;15(6):625-9
Authors: Reynolds RM, Boswell E, Hulette CM, Cummings TJ, Haglund MM, Boswell E, Hulette CM, Cumm Ings TJ, Haglund MM
Abstract
In this paper the authors describe the rare disorder of diffuse leptomeningeal oligodendrogliomatosis in a patient with an oligodendroglioma of the cauda equina who died suddenly. Reviewing this uncommon pathological entity is important so that it can be recognized and treated appropriately. This young, otherwise healthy woman with initial symptoms of low-back pain had a mass lesion of the cauda equina. During a workup, profound refractory intracranial hypertension suddenly developed despite aggressive surgical and medical intervention. Autopsy revealed a spinal cord oligodendroglioma with diffuse leptomeningeal oligodendrogliomatosis of the brain and spinal cord. Given the unforeseen outcome in this patient, this entity, although rare, should be considered in patients with similar presentations and addressed early to prevent similar outcomes. A review of the details of this case as well as the literature is presented below.
PMID: 21888480 [PubMed - indexed for MEDLINE]
Papillary tumor of the pineal region: two case studies and a review of the literature.
Ann Clin Lab Sci. 2011;41(2):174-81
Authors: Rickard KA, Parker JR, Vitaz TW, Plaga AR, Wagner S, Parker JC
Abstract
Papillary tumor of the pineal region (PTPR) is a newly recognized distinct entity in the 2007 World Health Organization nomenclature. This tumor is characterized by epithelial-appearing areas with papillary features and more densely cellular areas that often display ependymal-like differentiation. Ultrastructurally, this rare neuroepithelial tumor possesses neuroendocrine, secretory, and ependymal organelles that likely originate from the subcommissural organ (SCO) near the aqueduct of Sylvius. To date, approximately fifty-seven described cases worldwide have been recognized, with ages ranging from 5 years to 66 years (mean age=32 years). Clinical presentation most often includes headache and obstructive hydrocephalus. The tumor, which is well circumscribed, may be cystic and radiographically is often considered to be consistent with the findings of a pineocytoma. Microscopic evaluation often demonstrates a lesion with papillary areas lined by epithelioid tumor cells with eosinophilic cytoplasm and more cellular areas with cells exhibiting clear or vacuolated cytoplasm. Perivascular and true rosettes may be identified. Distinctive immunohistochemical features including reactivity for keratins (AE1/AE3, CAM 5.2, CK18) and only focal GFAP staining help distinguish this neoplasm from an ependymoma. The relative paucity of data compiled for this tumor makes giving an accurate diagnosis and prognosis a daunting task. We discuss two additional cases of PTPR that presented to us within a three-month span in order to more fully elucidate the possible presentations of this rare entity. Furthermore, we examine now 59 reported cases of PTPR in order to review the current diagnostic and treatment modalities in addition to exploring emerging research encompassing this unusual neoplasm.
PMID: 21844577 [PubMed - indexed for MEDLINE]
Familial pituitary tumor syndromes.
Endocr Pract. 2011 Jul-Aug;17 Suppl 3:41-6
Authors: Vasilev V, Daly AF, Petrossians P, Zacharieva S, Beckers A
Abstract
OBJECTIVE: To summarize current knowledge on the clinical and genetic characteristics of familial pituitary tumor syndromes.
METHODS: This review is based on a comprehensive search through the English-language literature with use of the following terms: "familial," "pituitary," "adenomas," and "tumors."
RESULTS: Familial pituitary tumors are rare and constitute approximately 5% of all pituitary adenomas. Currently, there are 4 recognized inherited syndromes that involve pituitary tumorigenesis-multiple endocrine neoplasia type 1 (MEN 1), multiple endocrine neoplasia type 4 (MEN 4), Carney complex (CNC), and familial isolated pituitary adenomas (FIPA). MEN 1 and CNC have been known for several decades, and their clinical and molecular characteristics have been comprehensively studied. Many familial cases of pituitary adenomas can be attributed to mutations in MEN1 and PRKAR1A genes. The recently defined MEN 4 is extremely rare. Familial pituitary tumors that are not associated with MEN 1 and CNC have been united under a new term introduced in the 1990s-FIPA. About 15% to 25% of patients with FIPA harbor mutations in the AIP gene.
CONCLUSION: Although rare, familial pituitary tumors present an opportunity to study inherited molecular and genetic mechanisms of pituitary tumorigenesis. A comprehensive understanding of their characteristics may provide a basis for early diagnosis and better management of affected patients.
PMID: 21613050 [PubMed - indexed for MEDLINE]
Brain and optic chiasmal herniations into sella after cabergoline therapy of giant prolactinoma.
Pituitary. 2011 Dec;14(4):384-7
Authors: Dhanwal DK, Sharma AK
Abstract
Optic chiasmal herniation following dopamine agonist therapy is a rare complication in patients with giant prolactinomas. But there are a few case reports of brain and chiasmal herniation following medical therapy in such cases. We report a young man who developed secondary visual loss and seizures after 6 months of medical treatment with cabergoline for giant prolactinoma. Magnetic resonance imaging of hypothalamic pituitary region revealed optic chiasmal and frontal lobe herniation into sella. There was marginal improvement in his vision after cabergoline dose reduction. The present case report highlights frontal lobe herniation in conjunction with optic chiasmal herniation as a very rare complication of medical therapy of giant prolactinoma. Different treatment options of this condition are being discussed.
PMID: 19381817 [PubMed - indexed for MEDLINE]
Recurrent spindle cell oncocytoma of the pituitary, a case report and review of literature.
Pituitary. 2011 Dec;14(4):367-70
Authors: Demssie YN, Joseph J, Dawson T, Roberts G, de Carpentier J, Howell S
Abstract
Spindle cell oncocytoma (SCO) is a rare non-functioning tumour of the pituitary which has just been formally recognized as a distinct entity by the 2007 WHO classification of brain tumours. We report a case of SCO who presented with symptoms of visual blurring, weight loss, intermittent vomiting and excessive tiredness of several months duration. Investigations revealed a bitemporal visual field defect, a panhypopituitary hormonal profile and a large pituitary tumour with suprasellar extension. He underwent a successful trans-sphenoidal resection of the pituitary tumour but it subsequently recurred twice at 9 months interval which required further two debulking procedures. A diagnosis of SCO was made based on its unique histologic and staining properties. To date there are only ten reported cases of SCO in total with only two of these cases being recurrent. Our case displayed the most aggressive clinical course despite having a low Ki-67 index contrary to the previously reported cases of recurrent SCO.
PMID: 19241173 [PubMed - indexed for MEDLINE]
Secondary resistance to cabergoline therapy in a macroprolactinoma: a case report and literature review.
Pituitary. 2011 Dec;14(4):362-6
Authors: Behan LA, Draman MS, Moran C, King T, Crowley RK, O'Sullivan EP, Smith D, Thompson CJ, Agha A
Abstract
Primary resistance to dopamine agonists occurs in 10-15% of prolactinomas but secondary resistance following initial biochemical and anti-proliferative response is very rare and has only been hitherto described in four previous cases, two with bromocriptine and two with cabergoline. We describe a case of a 57-year-old woman who presented with a large macroprolactinoma with suprasellar extension. She was initially treated with bromocriptine therapy with a resolution of symptoms, marked reduction in prolactin concentration and complete tumour shrinkage; a response which was subsequently maintained on cabergoline. After 8 years of dopamine agonist therapy, her prolactin concentration began to rise and there was symptomatic recurrence of her tumour despite escalating doses of cabergoline up to 6 mg weekly. Non-compliance was outruled by observed inpatient drug administration. The patient underwent surgical debulking followed by radiotherapy with good response. This case adds to the previous two cases of secondary resistance to cabergoline therapy in prolactinomas a marked initial response. While the mechanism of secondary resistance remains unknown and not possible to predict, close observation of prolactinoma patients on treatment is necessary.
PMID: 19191028 [PubMed - indexed for MEDLINE]
Sellar and suprasellar mixed germ cell tumor mimicking a pituitary adenoma.
Pituitary. 2011 Dec;14(4):345-50
Authors: Wildemberg LE, Vieira Neto L, Taboada GF, Moraes AB, Marcondes J, Conceição FL, Chimelli L, Gadelha MR
Abstract
Germ cell tumors (GCT) are a heterogeneous group of lesions whose origin is not well established. Several cases of primary intrasellar germinomas have been reported, however non-germinomatous GCT have rarely been described. We report the case of a young adult male patient with a mixed GCT that presented with a sellar tumor with suprasellar extension. The patient seeked medical attention because of seizures and magnetic resonance imaging evidenced a tumor of the sellar region. Hyperprolactinemia was also present and dopamine agonist therapy was started. As there was a rapid tumor growth and the patient had concomitant central diabetes insipidus and elevated testosterone levels, a GCT was suspected and confirmed by elevated serum concentration of β-human chorionic gonadotrophin. Patient underwent surgical resection of the tumor and histopathological examination confirmed the diagnosis of a mixed GCT. Chemotherapy was initiated, followed by conventional radiotherapy. In conclusion, although pituitary adenomas respond for the vast majority of sellar tumors, concomitant symptoms such as central diabetes insipidus and rapid tumor growth should raise the suspicion of a diverse diagnosis. The present report intend not only to show a rare case of sellar and suprasellar mixed GCT but also to remind clinicians that if laboratory findings do not fit into patient's diagnosis (such as high testosterone levels in our patient), then the diagnosis should be reviewed.
PMID: 19116786 [PubMed - indexed for MEDLINE]
Unusual clinical presentations of giant prolactinomas.
Pituitary. 2011 Dec;14(4):340-4
Authors: Grozinsky-Glasberg S, Shimon I
Abstract
Giant prolactinomas are rare pituitary tumors which have scarcely been reported in the literature. We describe three men with unusual presenting features of prolactin-secreting giant pituitary adenomas: prolonged and increasingly disturbing intolerance to light and noise; strange behavior and mood disturbances; and rhinorrhea followed by a finding of cerebrospinal fluid leakage. Treatment with dopamine agonist alleviated all symptoms, with concomitant suppression of plasma prolactin levels and a significant reduction in tumor mass. These cases emphasize the importance of considering unusual symptoms in the differential diagnosis of giant prolactinomas and the effectiveness of medical treatment.
PMID: 19104942 [PubMed - indexed for MEDLINE]
[A supratentorial primitive neuroectodermal tumor exhibiting pathological characteristics of medulloepithelioma: a case report].
No Shinkei Geka. 2012 Feb;40(2):159-65
Authors: Ishi Y, Suzuki N, Takasugi K, Tsuda H, Tateno M, Tanaka S
Abstract
A 50-year-old female presented with headache symptoms and left hemifacial paresis. Brain computed tomography and magnetic resonance images demonstrated a right frontal lobe tumor with hemorrhage and calcification. A gross total resection was carried out. Pathologically, the tumor exhibited three kinds of structures. The first was an astrocytic area which occupied the large part of this tumor. Small, round cells, which were positive for glial fibrillary acidic protein, were randomly distributed. The second was an epithelioid area with the highest MIB-1 labeling index of the three structures. Undifferentiated tumor cells demonstrated a dense proliferation, and short spindle-shaped cells exhibited an epithelial and a partly luminal alignment that resembled the embryonal neural tube. The third was a sarcomatoid area. Long spindle-shaped cells, which were positive for vimentin, were in a bundle-like form. We diagnosed this tumor as a primitive neuroectodermal tumor (PNET) with epithelial differentiation. PNETs are rare brain tumors with a predominance in children. Histologically, undifferentiated tumor cells demonstrate dense proliferations. The tumor arises from germinal matrix cells that differentiate into neuronal, glial, and ependymal cells. Medulloepithelioma, which is classified in the PNET category, is a very rare brain tumor that usually develops in childhood. Pathological studies have demonstrated that papillary, tubular, or trabecular arrangements of neoplastic neuroepithelium mimic the embryonic neural tube predominantly. In our case, the tumor partly demonstrated epithelial differentiation, which is a feature of medulloepithelioma, not only glial and mesenchymal differentiation. This is a rare case of PNET with uncommon histological features.
PMID: 22281469 [PubMed - in process]
[Intracranial germinoma associated with down syndrome: case report and review of literature].
No Shinkei Geka. 2012 Feb;40(2):137-43
Authors: Satoh S, Goto H, Izaki K, Sakuma H, Watanabe K
Abstract
It is well known that Down syndrome is sometimes associated with leukemia. However, there have been only a few case reports of a relationship between Down syndrome and brain tumors. The case was that of a 35-year-old man with Down syndrome complaining of gait disturbance. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a mass lesion in the pineal and bilateral cerebello-pontine cistern and spinal cord, marked hydrocephalus. Endoscopic biopsy and third ventriculostomy was performed. Surgical specimens showed typical germinoma. The patient was treated with a combination of chemotherapy with carboplatin and etposide, and irradiation. However he finally died 35 months after these therapies. Cases of malignant tumors other than leukemia, which are associated with Down syndrome, are extremely rare. We reviewed such rare cases of Down syndrome and intracranial germ cell tumor.
PMID: 22281466 [PubMed - in process]
Vidian Nerve Neurofibroma Removed via a Transpterygoid Approach.
Minim Invasive Neurosurg. 2011 Oct;54(5-6):250-2
Authors: McLaughlin N, Bresson D, Ditzel Filho LF, Carrau RL, Kelly DF, Prevedello DM, Kassam AB
Abstract
Lesions originating in the vidian canal are extremely rare. Most frequently, they are extensions from contiguous carcinomas. We present a rare case of a vidian nerve neurofibroma and discuss its surgical management.A 62-year-old woman with a history of a basal cell skin cancer was evaluated for bilateral tinnitus. Imaging revealed a left-sided lesion at the medial aspect of the pterygoid process base, over the vidian canal. Under image-guidance, an endonasal endoscopic transpterygoid approach was performed. The histopathological examination supported the diagnosis of neurofibroma.Benign nerve sheath tumors of the vidian nerve should be considered in the differential diagnosis of a vidian canal lesion. Given the propensity of more aggressive tumors, a tissue diagnosis should be warranted in order to coordinate appropriate subsequent treatment. The expanded endonasal transpterygoid approach offers a safe, less invasive, and effective route to perform the excisional biopsy of such a lesion.
PMID: 22278789 [PubMed - in process]
[A case of medullomyoblastoma].
No Shinkei Geka. 2011 Nov;39(11):1073-7
Authors: Aramaki Y, Shimokawa S, Nakashima S, Nakamura Y
Abstract
Medullomyoblastoma is a rare histologic variant of medulloblastoma. We report a case of medullomyoblastoma occurring in the cerebellar vermis. A 12-year-old girl presented with a 3-month history of headache, nausea, vomiting and unsteadiness of gait. Magnetic resonance imaging (MRI) revealed a mass lesion in the cerebellar vermis. A suboccipital craniectomy was perfomed to remove a tumor. Immunohistochemical studies confirmed the presence of both a primitive neuroectodermal component and rhabdomyoblastic differentiation, consistent with the diagnosis of medullomyoblastoma.
PMID: 22036819 [PubMed - indexed for MEDLINE]
Intracranial involvement in a patient with Hodgkin's lymphoma.
Singapore Med J. 2011 Sep;52(9):e180-3
Authors: Comert M, Bassullu N, Kaya E, Kocak A
Abstract
Intracranial and intraspinal involvement is a rare complication of Hodgkin's lymphoma. Intracranial involvement is observed in 0.2 to 0.5 percent of patients with Hodgkin's lymphoma. No specific risk factors associated with intracranial involvement have been found. We report intracranial involvement of Hodgkin's lymphoma in a patient who had previously undergone thyroidectomy due to thyroid papillary carcinoma.
PMID: 21947160 [PubMed - indexed for MEDLINE]
The central nervous system solitary fibrous tumor: a review of clinical, imaging and pathologic findings among all reported cases from 1996 to 2010.
Clin Neurol Neurosurg. 2011 Nov;113(9):703-10
Authors: Fargen KM, Opalach KJ, Wakefield D, Jacob RP, Yachnis AT, Lister JR
Abstract
OBJECTIVE: Central nervous system (CNS) solitary fibrous tumor (SFT) is a rare lesion first identified as a unique entity in 1996. We describe two cases treated at the University of Florida followed by a review of all reported cases of CNS SFT between 1996 and 2010.
METHODS: A review of the literature was performed to identify all reported cases of CNS SFT.
RESULTS: 189 cases (including the two presented herein) were discovered, of which 46 were spinal and 143 were intracranial. Demographic, imaging, and pathologic findings are presented. Roughly 6% of reported lesions are malignant. Subtotal resection (STR) was associated with a 16-fold increased odds of recurrence (OR 15.9, 95% CI 5.5-46.1), although mean follow-up was shorter in those cases of GTR without recurrence.
CONCLUSION: CNS SFT is a rare lesion. Six percent of lesions are malignant. GTR is superior to STR although the degree of superiority is not clear.
PMID: 21872387 [PubMed - indexed for MEDLINE]
Epstein-Barr virus-related lymphoproliferative disorder, cytomegalovirus reactivation, and varicella zoster virus encephalitis during treatment of medulloblastoma.
J Med Virol. 2011 Sep;83(9):1582-4
Authors: Ohta M, Taga T, Nomura A, Kato H, Takano T, Maruo Y, Takeuchi Y, Ishida M, Ohta S
Abstract
The case of a 14-year-old girl who developed Epstein-Barr virus-related lymphoproliferative disorder, cytomegalovirus reactivation, and Varicella zoster virus encephalitis during treatment for medulloblastoma is described. The patient was diagnosed with a cerebral medulloblastoma and treated with systemic chemotherapy, intrathecal chemotherapy, and radiotherapy. Six months later, she developed persistent low-grade fever, abdominal pain, and vomiting. Several mucosal or ulcerated lesions of the stomach and colon were found on fiberscopy. The infiltrating cells were positive for CD20 and EBER1, and the diagnosis of lymphoproliferative disorder was made. CMV antigen was found in the peripheral lymphocytes at that time. At the same time, it was noted that the patient's language was inappropriate for her age, and a facial and abdominal rash, as well as a right facial palsy, had developed. She was then diagnosed as having VZV encephalitis, because VZV was detected in the CSF. She was treated subsequently with acyclovir and oral steroid, and the VZV encephalitis resolved. The lymphoproliferative disorder improved gradually with rituximab, ganciclovir, and total nutritional support. At the time of the development of the lymphoproliferative disorder and VZV encephalitis, the patient had severe lymphopenia and this may have caused these rare phenomena in a non-transplant setting.
PMID: 21739449 [PubMed - indexed for MEDLINE]
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
Genet Med. 2011 Sep 9;
Authors: Gripp KW, Lin AE
Abstract
Costello syndrome (OMIM# 218040) is a distinctive rare multisystem disorder comprising a characteristic coarse facial appearance, intellectual disabilities, and tumor predisposition. Although the diagnosis can be suspected clinically, confirmation requires identification of a heterozygous mutation in the proto-oncogene HRAS. In contrast to somatic oncogenic mutations in neoplasia, the Costello syndrome changes are typically introduced in the paternal germline. The predicted amino acid substitutions allow for constitutive or prolonged activation of the HRAS protein, resulting in dysregulation of the Ras/mitogen activated protein kinase pathway. Dysregulation of this signaling pathway is the disease mechanism shared among Costello syndrome and other rasopathies, including neurofibromatosis type 1, Noonan syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. The Ras/mitogen activated protein kinase pathway governs cell proliferation and differentiation, and its dysregulation affects cardiac and brain development, accounting for the significant overlap in physical and developmental differences and common medical problems among rasopathies. Unlike the genetically heterogeneous Noonan syndrome and cardio-facio-cutaneous syndrome, Costello syndrome is caused by HRAS mutations only. Patients, clinicians, and researchers may benefit from a multidisciplinary "rasopathy clinic," which serves patients with more common conditions such as Noonan syndrome and neurofibromatosis and those affected by rare conditions such as Costello syndrome.Genet Med advance online publication 9 September 2011.
PMID: 22261753 [PubMed - as supplied by publisher]
Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.
J Pathol. 2012 Jan;226(1):7-16
Authors: Yip S, Butterfield YS, Morozova O, Chittaranjan S, Blough MD, An J, Birol I, Chesnelong C, Chiu R, Chuah E, Corbett R, Docking R, Firme M, Hirst M, Jackman S, Karsan A, Li H, Louis DN, Maslova A, Moore R, Moradian A, Mungall KL, Perizzolo M, Qian J, Roldan G, Smith EE, Tamura-Wells J, Thiessen N, Varhol R, Weiss S, Wu W, Young S, Zhao Y, Mungall AJ, Jones SJ, Morin GB, Chan JA, Cairncross JG, Marra MA
Abstract
Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of the identity and function of the genes affected by these alterations is limited. We performed exome sequencing on a discovery set of 16 oligodendrogliomas with 1p/19q co-deletion to identify new molecular features at base-pair resolution. As anticipated, there was a high rate of IDH mutations: all cases had mutations in either IDH1 (14/16) or IDH2 (2/16). In addition, we discovered somatic mutations and insertions/deletions in the CIC gene on chromosome 19q13.2 in 13/16 tumours. These discovery set mutations were validated by deep sequencing of 13 additional tumours, which revealed seven others with CIC mutations, thus bringing the overall mutation rate in oligodendrogliomas in this study to 20/29 (69%). In contrast, deep sequencing of astrocytomas and oligoastrocytomas without 1p/19q loss revealed that CIC alterations were otherwise rare (1/60; 2%). Of the 21 non-synonymous somatic mutations in 20 CIC-mutant oligodendrogliomas, nine were in exon 5 within an annotated DNA-interacting domain and three were in exon 20 within an annotated protein-interacting domain. The remaining nine were found in other exons and frequently included truncations. CIC mutations were highly associated with oligodendroglioma histology, 1p/19q co-deletion, and IDH1/2 mutation (p < 0.001). Although we observed no differences in the clinical outcomes of CIC mutant versus wild-type tumours, in a background of 1p/19q co-deletion, hemizygous CIC mutations are likely important. We hypothesize that the mutant CIC on the single retained 19q allele is linked to the pathogenesis of oligodendrogliomas with IDH mutation. Our detailed study of genetic aberrations in oligodendroglioma suggests a functional interaction between CIC mutation, IDH1/2 mutation, and 1p/19q co-deletion.
PMID: 22072542 [PubMed - indexed for MEDLINE]
Posterior fossa vermian cystic schwannoma mimicking as pilocytic astrocytoma: a case report and literature review.
Neurol India. 2011 Sep-Oct;59(5):756-60
Authors: Umredkar A, Gupta SK, Radotra B
Abstract
Intraparenchymal schwannomas are rare and most of the reported cases are in supratentorial region with frontal lobe being most common. Infratentorial location is very rare. We report a posterior fossa midline large cystic schwannoma with mural nodule mimicking as pilocytic astrocytoma. The pathogenesis and neuroradiological findings of intraparenchymal schwannomas are discussed with review of the related literature.
PMID: 22019665 [PubMed - indexed for MEDLINE]
Metastatic neuroblastoma to the mandible: an unusual presentation.
Am J Otolaryngol. 2011 Sep-Oct;32(5):438-40
Authors: Parker CA, Liess BD, Gov-Ari E, Sramek BW
Abstract
Neuroblastoma is an uncommon cause of a mandibular mass. We describe an 8-month-old child who presented with loosening of his dentition, poor oral intake, and a large mandibular mass. Thorough radiographic study and subsequent biopsy of the oral lesion revealed the diagnoses of metastatic neuroblastoma. Ultimately, he was successfully treated with surgery and chemotherapy. The unusual presentation and pathophysiology of this malignancy will be reviewed. Neuroblastoma presenting as a mandible mass associated with natal teeth is rare, but it should be considered in the differential diagnosis of pediatric mandibular lesions.
PMID: 20851501 [PubMed - indexed for MEDLINE]
Expanded endoscopic endonasal transcribriform approach for resection of anterior skull base olfactory schwannoma.
J Neurosurg. 2012 Jan;32(1):E3
Authors: Liu JK, Eloy JA
Abstract
Anterior skull base (ASB) schwannomas are extremely rare and can often mimic other pathologies involving the ASB such as olfactory groove meningiomas, hemangiopericytomas, esthesioneuroblastomas, and other malignant ASB tumors. The mainstay of treatment for these lesions is gross-total resection. Traditionally, resection for tumors in this location is performed through a bifrontal transbasal approach that can involve some degree of brain retraction or manipulation for tumor exposure. With the recent advances in endoscopic skull base surgery, various ASB tumors can be resected successfully using an expanded endoscopic endonasal transcribriform approach through a "keyhole craniectomy" in the ventral skull base. This approach represents the most direct route to the anterior cranial base without any brain retraction. Tumor involving the paranasal sinuses, medial orbits, and cribriform plate can be readily resected. In this video atlas report, the authors demonstrate their step-by-step techniques for resection of an ASB olfactory schwannoma using a purely endoscopic endonasal transcribriform approach. They describe and illustrate the operative nuances and surgical pearls to safely and efficiently perform the approach, tumor resection, and multilayered reconstruction of the cranial base defect. The video can be found here: [youtu.be] .
PMID: 22251251 [PubMed - in process]
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease.
J Clin Neurosci. 2012 Jan 14;
Authors: Pearce P, Robertson T, Ortiz-Gomez JD, Rajah T, Tollesson G
Abstract
Ollier disease is a rare disorder characterised by the development of multiple enchondromas in long bones. Here we present a 19-year-old man with Ollier disease who also developed three synchronous brain tumours. Craniotomy, biopsy and debulking was performed for one lesion followed by a period of observation, and 9months later he underwent a second craniotomy and debulking for symptomatic progression. Histopathological examination revealed a diagnosis of multifocal diffuse glioma (World Health Organization grade II). This report highlights the increased incidence of primary brain tumours in patients with Ollier disease and identifies the importance of screening patients with Ollier disease for primary neoplasms.
PMID: 22249016 [PubMed - as supplied by publisher]
[Cerebral metastasis of a "ghost" bronchopulmonary tumor.]
Rev Pneumol Clin. 2012 Jan 11;
Authors: Herrak L, Jahnaoui N, Hammi S, El Asri N, Achachi L, El Ftouh M, Mansouri H, El Fassy Fihry MT
Abstract
Carcinoma of unknown primary (CUP) is the metastasis of epithelial malignancy whose origin remains unknown. Bronchial carcinoma is the most common cause (45%), however, in more than a quarter of cases, its origin is unknown and the choice of therapy often justifies a histopathological precision brought by the immuno-histochemistry. We present a rare case of cerebral metastasis, revealing an unknown lung cancer after a comprehensive review. This is a patient aged 53 years, chronic smoker, who presented a year and a half ago a sudden loss of consciousness with afebrile tonic-clonic seizure of spontaneous resolution. Clinical examination was unremarkable. Brain imaging by MRI has objectified the presence of two parietal tissue formations, which stereotactic biopsy with histological and immuno-histochemical favored metastasis of lung adenocarcinoma origin. An etiologic in search of the primitive lung remained negative (chest X-ray of face, chest CT and bronchoscopy with sampling upper gastrointestinal endoscopy). The rest of the etiologic, looking for another primitive, remained negative. The diagnosis of a bronchogenic carcinoma with brain metastasis is therefore withheld. The patient received two brain radiotherapies (gamma kniff) with regression of the two nodular formations. We have not given specific treatment and have called for very close monitoring of the patient who remained stable after 18 months. Through this observation, we stress the interest of the histology and immuno-histochemistry of carcinoma of unknown primary (CUP) to the diagnosis, guide therapy and determine prognosis.
PMID: 22244468 [PubMed - as supplied by publisher]
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.
Am J Med Genet A. 2011 Oct;155A(10):2534-7
Authors: Niemi AK, Northrup H, Hudgins L, Bernstein JA
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by abnormalities involving the skin, brain, kidney (angiomyolipomas, cysts), and heart. Horseshoe kidney has not been considered to be a common renal manifestation of TSC but it has been previously reported in two patients with TSC. We report on two unrelated females with typical manifestations of TSC, horseshoe kidney, and an identical variant c.5138G>A in exon 39 (p.Arg1713His) of TSC2 gene. These cases provide evidence that horseshoe kidney is associated with TSC and add to the evidence for the pathogenicity of this variant. Furthermore, one of the patients also had a diaphragmatic hernia which has been reported twice in the medical literature in individuals with TSC. It is possible that a diaphragmatic hernia is another rare manifestation of TSC and that TSC should be included in the differential diagnosis of infants with a diaphragmatic hernia. Given that both a horseshoe kidney and a diaphragmatic hernia are findings that can be detected prenatally on an ultrasound examination, our findings may have implications for prenatal genetic counseling.
PMID: 21910228 [PubMed - indexed for MEDLINE]
Medulloblastoma and gliomatosis cerebri: rare brain tumors in multiple sclerosis patients.
Neurol Sci. 2011 Oct;32(5):893-7
Authors: da Silva AA, dos Santos Cavaco SM, Taipa RJ, Pinto PR, Pires MJ
Abstract
The simultaneous appearance of both multiple sclerosis (MS) and central nervous system (CNS) tumors is relatively uncommon. Whether the co-existence of two diseases is due to chance alone or the result of a causal relationship is still a matter of debate. There is also controversy about the effect of long-term exposure of MS patients to immunomodulatory drugs on the incidence of cancer. This paper reports two cases of rare CNS tumors (i.e., medulloblastoma and gliomatosis cerebri) in adult MS patients. Our cases emphasize that when uncommon neurological features appear in patients with MS, brain magnetic resonance imaging (MRI) ought to be done and brain biopsy should be considered to exclude a concomitant CNS disorder. These procedures are essential for the differential diagnosis and early treatment.
PMID: 21234776 [PubMed - indexed for MEDLINE]
Rare phenomenon of extracranial metastasis of glioblastoma.
J Clin Oncol. 2011 Dec 1;29(34):4594-5
Authors: Fonkem E, Lun M, Wong ET
PMID: 22042941 [PubMed - indexed for MEDLINE]
Rare case of infratentorial non-Langerhans cell histiocytosis with lethal outcome presenting multiple diagnostic difficulties.
J Clin Oncol. 2011 Dec 1;29(34):e830-2
Authors: Doukas A, Petridis AK, Barth H, Hugo HH, Mehdorn HM
PMID: 22025140 [PubMed - indexed for MEDLINE]
Molecular profile of oligodendrogliomas in young patients.
Neuro Oncol. 2011 Oct;13(10):1099-106
Authors: Suri V, Jha P, Agarwal S, Pathak P, Sharma MC, Sharma V, Shukla S, Somasundaram K, Mahapatra AK, Kale SS, Sarkar C
Abstract
Several studies on molecular profiling of oligodendrogliomas (OGs) in adults have shown a distinctive genetic pattern characterized by combined deletions of chromosome arms 1p and 19q, O6-methylguanine-methyltransferase (MGMT) methylation, and isocitrate dehydrogenase 1 (IDH1) mutation, which have potential diagnostic, prognostic, and even therapeutic relevance. OGs in pediatric and young adult patients are rare and have been poorly characterized on a molecular and biological basis, and it remains uncertain whether markers with prognostic significance in adults also have predictive value in these patients. Fourteen cases of OGs in young patients (age, ≤ 25 years) who received a diagnosis over 7 years were selected (7 pediatric patients age ≤ 18 years and 7 young adults aged 19-25 years). The cases were evaluated for 1p/19q status, MGMT promoter methylation, p53 mutation, and IDH1 mutation. None of the pediatric cases showed 1p/19q deletion. In young adults, combined 1p/19q loss was observed in 57% and isolated 1p loss in 14% of cases. The majority of cases in both subgroups (71% in each) harbored MGMT gene promoter methylation. TP53 and IDH1 mutations were not seen in any of the cases in both the groups. To our knowledge, this is the first study to show that molecular profile of OGs in pediatric and young adult patients is distinct. Further large-scale studies are required to identify additional clinically relevant genetic alterations in this group of patients.
PMID: 21937591 [PubMed - indexed for MEDLINE]
Poststeroid panniculitis in an adult.
Am J Dermatopathol. 2011 Oct;33(7):e77-80
Authors: de-Andrés-del-Rosario A, Verea-Hernando MM, Yebra-Pimentel MT, Rosende-Maceiras L, Piñeyro-Molina F, Capdevila EF
Abstract
Poststeroid panniculitis is a rare disorder usually reported in children after a sudden decrease or withdrawal of corticosteroid therapy. We report a case in an adult, a finding very rarely reported in English literature. The case report is about a 34-year-old man with multiple erythematous, firm and tender subcutaneous nodules on both thighs and legs after the withdrawal of long-term doses of dexamethasone prescribed before and after surgery for a frontoinsular anaplastic oligodendroglioma. Histopathologic study revealed mainly lobular and also septal panniculitis with fat necrosis and characteristic needle-shaped clefts in radial arrangement within fat cells and multinucleated giant cells. The lesions resolved in about 5 months, after weight loss and application of topical corticosteroids for 1 month, leaving only residual hyperpigmentation.
PMID: 21915029 [PubMed - indexed for MEDLINE]
Unusual CT hyperattenuating dermoid cyst of cerebellum: a new case report and literature review.
Cerebellum. 2011 Sep;10(3):536-9
Authors: Li ZJ, Miao YX, Sun P, Li YJ, Dou YH, Xu J, Chen X, Jiang YX
Abstract
Almost all intracranial dermoid cysts typically display low-density lesions on plain computerized tomography (CT) scans due to abundant lipids content. CT hyperattenuating dermoid cyst (CHADC) is very uncommon with only nine case reports in the literature update, which occurs exclusively in the posterior fossa. Moreover, CHADC with mural nodule is exceptionally rare, and only one such case was documented previously. Here, we report a new case of cerebellar CHADC with mural nodule in a 14-year-old male patient who presented with a 4-week history of dull headache and 5-day history of gait disturbance. With an average attenuation value of 89.9 Hounsfield units on CT scans, the lesion mainly displayed T1 hyperintensity, T2 hypointensity, and FLAIR hypointensity on magnetic resonance imaging. The patient underwent lesion gross total resection and symptomatic improvement, and final pathology was consistent with dermoid cyst. For further clarifying the mechanism of unusual CT hyperdensity, we sampled the cystic content and quantified its protein, calcium, and cholesterol, and our result suggested the high protein, high calcium, and low lipids in contents was the main mechanism of increased CT attenuation for CHADC.
PMID: 21448632 [PubMed - indexed for MEDLINE]
Imaging diagnosis of brain metastasis.
Prog Neurol Surg. 2012;25:55-73
Authors: Barajas RF, Cha S
Abstract
Hematogeneous spread of primary neoplasm can result in central nervous system (CNS) disease burden in various anatomically distinct regions; calvarial, pachymeningeal, leptomeningeal, and intraparenchymal. The choice of imaging modality is dependent on the individual clinical situation, but, largely depends on the patients overall clinical status and the information needed to make treatment decisions. Contrast-enhanced magnetic resonance (MR) imaging is the preferred imaging modality of choice; however, computed tomography (CT) is often utilized as the first-pass screening modality for CNS disease. Despite the superior soft tissue resolution, multiplanar capability, and noninvasive nature of MR imaging, T(1)- and T(2)-weighted sequences are limited to delineating morphologic anatomical deraignment of tissues by tumor. Several physiology based MR imaging sequences have been developed which compliment anatomic MR imaging. Proton magnetic resonance spectroscopic and dynamic susceptibility contrast-enhanced perfusion-weighted imaging are two physiologic sequences which add additional diagnostic information allowing for improved tumor characterization. Common pitfalls in evaluating for metastatic disease burden include the misidentification of non-neoplastic hematomas, remote microvascular ischemia, and acute onset of ischemic stroke. In the pediatric population, CNS metastases are rare; however, the onset of acute neurological symptoms in a child with known primary tumor should prompt imaging of the neuroaxis.
PMID: 22236668 [PubMed - in process]
Local thrombolysis for successful treatment of acute stroke in an adolescent with cardiac myxoma.
ScientificWorldJournal. 2011;11:891-3
Authors: Gassanov N, Nia AM, Dahlem KM, Ederer S, Wedemeyer I, Caglayan E, Erdmann E, Er F
Abstract
Intracardiac myxomas are the most common benign cardiac tumors in adults. They are a rare source of cardiogenic embolisms and sudden death, especially in young patients. This report describes the case of a male adolescent who presented with right-sided paresis and aphasia. Magnetic resonance imaging of the brain revealed an ischemic stroke without evidence of acute bleeding. Intra-arterial local thrombolysis was immediately started. An echocardiographic screening after successful thrombolysis with a remarkable recovery of symptoms detected a thrombotic-like mass in the left atrium. The mass was excised surgically, confirmed as a benign atrial myxoma, and the patient was discharged with restitution ad integrum. Thus, contrary to some critical reports, thrombolytic therapy for acute ischemic strokes due to atrial myxomas may be safe and highly effective.
PMID: 21516285 [PubMed - indexed for MEDLINE]
Clinicopathologic features of intracranial central neurocytomas in 2 dogs.
J Vet Intern Med. 2012 Jan;26(1):186-91
Authors: Rossmeisl JH, Piñeyro P, Sponenberg DP, Garman RH, Jortner BS
Abstract
BACKGROUND: In humans, central neurocytomas are rare and typically benign intracranial tumors found within the lateral ventricles, although extraventricular variants have been reported. Intracranial central neurocytomas have not been previously recognized in domestic animals.
OBJECTIVES: To describe the clinicopathologic features of canine intracranial central neurocytomas.
ANIMALS: Two dogs with spontaneous intracranial and intraventricular neoplasms.
RESULTS: Both dogs experienced seizures, rapid neurological deterioration, and death from tumor-associated complications within 5 days of the onset of clinical signs, and had neoplastic masses within the lateral ventricles. A brain MRI was performed in 1 dog, which revealed a T1-isointense, heterogeneously T2 and FLAIR hyperintense, and markedly and heterogeneously contrast-enhancing mass lesions within both lateral ventricles. Histologically, the neoplasms resembled oligodendrogliomas. The diagnosis of central neurocytoma was supported by documenting expression of multiple neuronal markers, including neuron-specific enolase, synaptophysin, neural-cell adhesion molecule, and neuronal nuclear antigen within the tumors, and ultrastructural evidence of neuronal differentiation of neoplastic cells.
CONCLUSIONS AND CLINICAL IMPORTANCE: Central neurocytoma should be a differential diagnosis for dogs with intraventricular brain masses. Morphologic differentiation of central neurocytoma from other intraventricular neoplasms, such as ependymoma or oligdendroglioma, can be difficult, and definitive diagnosis often requires immunohistochemical or ultrastructural confirmation of the neural origin of the neoplasm.
PMID: 22233345 [PubMed - in process]
Unusual presentation of neurobrucellosis: a solitary intracranial mass lesion mimicking a cerebral tumor : A case of encephalitis caused by Brucella melitensis.
J Infect Chemother. 2012 Jan 11;
Authors: Erdem M, Namiduru M, Karaoglan I, Kecik VB, Aydin A, Tanriverdi M
Abstract
Among the diverse presentations of neurobrucellosis, solitary intracranial mass lesions are extremely rare. To the best of our knowledge, we describe here the second case of neurobrucellosis mimicking a cerebral tumor caused by Brucella melitensis. The mass lesion was clinically and radiologically indistinguishable from a brain tumor. The diagnosis was established by isolating Brucella melitensis in a blood culture and a positive Wright's agglutination test on the cerebrospinal fluid at 1:320 titers. Paraffin sections of the cerebral mass showed nongranulomatous encephalitis. We suggest that patients with an isolated intraparenchymal mass lesion with nongranulomatous encephalitis should also be studied for brucellosis in endemic areas.
PMID: 22231602 [PubMed - as supplied by publisher]
Intracranial dural metastasis from uterine leiomyosarcoma with orbital extension.
Neurol Sci. 2012 Jan 10;
Authors: Mariniello G, Vergara P, Del Basso De Caro ML, Maiuri F
Abstract
Intracranial metastases from uterine leiomyosarcoma are very rare and have been found mainly in the brain (17 cases); on the other hand, metastases to the skull, dura and orbit are really exceptional. The authors report the case of a 57-year-old woman who presented with a 6-week history of right proptosis, left hemiparesis, intracranial hypertension and torpor 8 months after surgery for uterine leiomyosarcoma. CT scan showed a very large right frontal tumor with both intracranial and intraorbital extension. At operation the tumor was found to arise from the dura of the right anterior cranial fossa; complete removal of the intracranial tumor mass and partial removal of the intraorbital component were performed. However, early tumor regrowth was observed 45 days after operation and death occurred 2 months later. Pathologic examination showed a high-grade sarcoma with smooth muscle differentiation and high mitotic activity. Immunohistochemical staining revealed positivity for actin and vimentin and negativity for S-100 protein, cytocheratin and desmin. This is the first reported case of uterine leiomyosarcoma metastatic to the dura of the anterior cranial fossa with intracranial and intraorbital extension. An aggressive surgical resection is the best treatment of intracranial metastatic leiomyosarcoma, because of the scarce response to radiotherapy and chemotherapy. However, the outcome is poor, with early recurrence.
PMID: 22231469 [PubMed - as supplied by publisher]
Ependymomas, neuronal and mixed neuronal-glial tumors, dysembroblastic neuroepithelial tumors, pleomorphic xanthoastrocytomas, and pilocytic astrocytomas.
Handb Clin Neurol. 2012;105:551-67
Authors: Newton HB, Rudà R, Soffietti R
Abstract
Ependymomas, neuronal and mixed glial-neuronal neoplasms, dysembryoblastic neuroepithelial tumors, pleomorphic xanthoastrocytomas, and pilocytic astrocytomas are rare brain tumors, but they are clinically relevant and some are related to a resistant epilepsy. The majority of these tumors are low to medium grade and do not behave in an aggressive fashion. However, more anaplastic and aggressive subtypes can occur. In these instances, radiotherapy is generally employed. Targeted agents are starting to have a role.
PMID: 22230518 [PubMed - in process]
A Hybrid Geometric Phase II/III Clinical Trial Design based on Treatment Failure Time and Toxicity.
J Stat Plan Inference. 2012 Apr 1;142(4):944-955
Authors: Thall PF, Nguyen HQ, Wang X, Wolff JE
Abstract
The problem of comparing several experimental treatments to a standard arises frequently in medical research. Various multi-stage randomized phase II/III designs have been proposed that select one or more promising experimental treatments and compare them to the standard while controlling overall Type I and Type II error rates. This paper addresses phase II/III settings where the joint goals are to increase the average time to treatment failure and control the probability of toxicity while accounting for patient heterogeneity. We are motivated by the desire to construct a feasible design for a trial of four chemotherapy combinations for treating a family of rare pediatric brain tumors. We present a hybrid two-stage design based on two-dimensional treatment effect parameters. A targeted parameter set is constructed from elicited parameter pairs considered to be equally desirable. Bayesian regression models for failure time and the probability of toxicity as functions of treatment and prognostic covariates are used to define two-dimensional covariate-adjusted treatment effect parameter sets. Decisions at each stage of the trial are based on the ratio of posterior probabilities of the alternative and null covariate-adjusted parameter sets. Design parameters are chosen to minimize expected sample size subject to frequentist error constraints. The design is illustrated by application to the brain tumor trial design.
PMID: 22228921 [PubMed - as supplied by publisher]
Multiple chromosomal monosomies are characteristic of giant cell ependymoma.
Hum Pathol. 2011 Dec;42(12):2042-6
Authors: Dahlback HS, Brandal P, Krossnes BK, Fric R, Meling TR, Meza-Zepeda LA, Danielsen HE, Heim S
Abstract
Giant cell ependymoma, a rare ependymoma subtype, was recently recognized as a separate diagnostic entity with variations both in malignant potential and course of disease. We analyzed the first supratentorial giant cell ependymoma using G-band karyotyping, DNA ploidy analysis, and array comparative genomic hybridization. The tumor was hypodiploid, and the karyotype showed multiple monosomies. This novel cytogenetic pattern seems specific for giant cell ependymoma as the only previous cytogenetic analysis of a giant cell ependymoma found similar monosomies. We were also able to analyze cytogenetically the subsequent recurrent tumor, phenotypically an anaplastic ependymoma, allowing a first insight into the genetic events involved in disease progression.
PMID: 21683982 [PubMed - indexed for MEDLINE]
Myeloid sarcoma in a child with acute myeloblastic leukaemia.
J Coll Physicians Surg Pak. 2011 Jun;21(6):369-70
Authors: Ahmad J, Zafar L, Hussain G, Kausar S
Abstract
We report a rare occurrence of myeloid sarcoma in a 7 years old child with acute myeloblastic leukaemia (AML-FAB type M2). He presented with fever, generalized weakness, bilateral proptosis and left parotid swelling. CT scan revealed a mass in paranasal sinuses extending into brain and retro-orbital region. Diagnosis of AML M2 was made on bone marrow aspiration and special stains. Induction therapy for AML was given according to standard protocol. The extramedullary lesion as well as the acute leukaemia went into complete remission.
PMID: 21711997 [PubMed - indexed for MEDLINE]
Napsin a and thyroid transcription factor-1-positive cerebellar tumor with epidermal growth factor receptor mutation.
Case Rep Oncol. 2011 Sep;4(3):564-8
Authors: Kuwata T, Iwata T, Iwanami T
Abstract
We present a very rare case of cerebellar metastasis of unknown origin, in which a primary lung adenocarcinoma was diagnosed by pathological examination of a cerebellar metastatic tumor, using immunohistochemical markers and epidermal growth factor receptor (EGFR) mutation of primary lung cancer. A 69-year-old woman was admitted to our hospital because of a hemorrhagic cerebellar tumor and multiple small brain tumors. She underwent cerebellar tumor resection. On pathological examination, the tumor was diagnosed as adenocarcinoma. However, the primary tumor site was unidentifiable even with several imaging inspections. On immunohistochemical analysis, the resected tumor was positive for napsin A and thyroid transcription factor-1. In addition, an EGFR mutation was detected in the tumor. Therefore, primary lung cancer was diagnosed and the patient was started on gefitinib (250 mg/day) therapy.
PMID: 22220151 [PubMed - in process]
Atypical teratoid rhabdoid tumor located in the pineal region following prophylactic irradiation for acute lymphoblastic leukemia.
Brain Tumor Pathol. 2012 Jan 6;
Authors: Kuge A, Sato S, Sakurada K, Takemura S, Kayama T
Abstract
Atypical teratoid rhabdoid tumor (AT/RT) is a rare entity. In the central nervous system, AT/RT generally arises from the posterior fossa of infants and behaves aggressively. AT/RT is reported to arise from the infratentorial region (63%) and other sites, such as the suprasellar region, cerebellopontine angle, and spinal cord. The pineal region is rare (6%) as a site of origin. Radiation-induced brain tumors are well known. In this report, we present a case of a pineal region tumor causing acute hydrocephalus that could be pathologically diagnosed as AT/RT following prophylactic cranial irradiation for acute lymphoblastic leukemia.
PMID: 22218708 [PubMed - as supplied by publisher]
[Intravascular lymphoma: report of two autopsic cases, literature review].
Ann Pathol. 2011 Aug;31(4):320-4
Authors: Rousselot-Denis C, Arbion F, Jaunas M, Rousselet MC, Guyetant S
Abstract
Intravacular large B-cell lymphoma (LIV) is a rare entity individualized in the WHO classification since 2001 as a subtype of extranodal diffuse large B-cell lymphoma. We report two autopsic cases of LIV: a 77-year-old woman presenting with fever, dyspnea, antehypophyseal failure and a 54-year-old man presenting with fever, weight-loss, night-sweats and encephalopathy. They died respectively 10 and 7 months after the beginning of symptoms, without diagnosis. Neither infectious disease nor lymphomatous proliferation had been identified. From these two cases and our literature review, we insist on the importance of histopathological diagnosis on biopsy for this rare pathology which clinical diagnosis remains difficult.
PMID: 21839361 [PubMed - indexed for MEDLINE]
Hypothalamic obesity syndrome: Rare presentation of CNS+ B-cell lymphoblastic lymphoma.
Pediatr Blood Cancer. 2011 Dec 27;
Authors: Quigg TC, Haddad NG, Buchsbaum JC, Shih CS
Abstract
Hypothalamic obesity syndrome can affect brain tumor patients following surgical intervention and irradiation. This syndrome is rare at diagnosis in childhood cancer, but has been reported with relapse of acute lymphoblastic leukemia. Here we present a case of hypothalamic obesity syndrome as the primary presentation of a toddler found to have CNS+ B-cell lymphoblastic lymphoma. Cytogenetic studies on diagnostic cerebrospinal fluid revealed MLL gene rearrangement (11q23). Hyperphagia and obesity dramatically improved following induction and consolidation chemotherapy. We describe a novel presentation of hypothalamic obesity syndrome in CNS B-cell lymphoblastic lymphoma, responsive to chemotherapy. Pediatr Blood Cancer © 2011 Wiley Periodicals, Inc.
PMID: 22213612 [PubMed - as supplied by publisher]
Acrogigantism and facial asymmetry: McCune-Albright syndrome.
J Pediatr Endocrinol Metab. 2011;24(9-10):835-7
Authors: Subbiah S, Palikhe G, Bhadada SK, Mukherjee KK, Bhansali A
Abstract
McCune-Albright syndrome (MAS) is characterized by a triad of poly/monoostotic fibrous dysplasia, café-au-lait macules and hyperfunctioning endocrinopathies. Association of MAS with GH excess is rare, and in most of the instances somatotropinoma has not been documented. Treatment of patients of MAS with acromegaly is difficult because of thickened calvarium and dysplastic skull bone. We report a 17-year-old girl, who presented with cranio-facial fibrous dysplasia, café-au-lait macules and also had acromegaly due to pituitary macroadenoma, and treated with gamma knife radiosurgery.
PMID: 22145488 [PubMed - indexed for MEDLINE]
Seventeen-year-old adolescent with pituitary abscess.
J Pediatr Endocrinol Metab. 2011;24(9-10):771-3
Authors: Lin MI, Janss AJ, Wrubel D, Meacham LR
Abstract
Pituitary abscess is a rare but potentially life-threatening infectious process. Diagnosis is challenging as symptoms are non-specific and signs of infection may be absent. We report the case of a previously healthy 17-year-old male who presented with worsening headaches, polyuria, polydipsia and no clinical signs of infection. On evaluation, he was found to have hypopituitarism with diabetes insipidus, hypothyroidism and adrenal insufficiency. An imaging study revealed a pituitary mass. He underwent transsphenoidal biopsy to rule out tumor. The abscess was drained transsphenoidally and he was treated with parental antibiotics. Magnetic resonance imaging one year later revealed a normal pituitary without any evidence of abscess or mass. He continues to require thyroid, adrenal and anti-diuretic hormone replacements. As with any pituitary lesion, prompt complete hypothalamic pituitary evaluation is essential to avoid potentially life-threatening consequences.
PMID: 22145473 [PubMed - indexed for MEDLINE]
Primary malignant meningeal melanomatosis: a clinical, radiological and pathologic case study.
Acta Neurol Belg. 2011 Sep;111(3):228-31
Authors: Arias M, Alberte-Woodward M, Arias S, Dapena D, Prieto A, Suárez-Peñaranda JM
Abstract
A 40 year-old woman with subacute headache and visual impairment was admitted. Neurological examination revealed meningismus, diminished visual acuity, bilateral sixth cranial nerve palsy, and papillary edema. Dermatologic examination was normal. The brain CT scan showed hydrocephalus and hyperdense edging around fissures and sulci. The CSF study showed an increased protein level, with persistently negative microbiologic and cytological studies. Prior to Gd-DPTA injection, the brain T1-WI MRI revealed leptomeningeal hyperintensity. A dark subpial substance became evident at cerebral biopsy. The histopatological diagnosis was diffuse leptomeningeal melanomatosis. This case report highlights the diagnostic value of the brain MRI findings in primary leptomeningeal melanomatosis, a rare pathologic condition diagnosed in most published cases only after necropsy. Meningeal T1-WI hyperintensity prior to contrast injection is not caused by sarcoidosis or meningeal carcinomatosis, lymphomatosis or gliomatosis.
PMID: 22141290 [PubMed - indexed for MEDLINE]
Cushing's disease in a patient with steroid 21-hydroxylase deficiency.
Endocr J. 2011;58(8):699-706
Authors: Haase M, Schott M, Kaminsky E, Lüdecke DK, Saeger W, Fritzen R, Schinner S, Scherbaum WA, Willenberg HS
Abstract
Cushing's disease rarely appears as a consequence of hereditary disease. However, familial diseases with diminished glucocorticoid feedback are associated with secondary hypercorticotropinism and have been shown to give rise to pituitary adenomas. We here describe the rare case of a 30-year old female patient with congenital adrenal hyperplasia who also showed clinical signs and a typical history of hypercortisolism that was specified as Cushing's disease. After removal of a pituitary microadenoma, serum-cortisol levels fell below normal and the symptoms improved. However, after four years the menstrual cycle was irregular again and ACTH levels were in the upper range of normal. A corticotropin challenge showed a minor cortisol response but a marked increase in 17-hydroxyprogesterone serum concentrations. Genetic analysis revealed a homozygous mutation in exon 7 of the CYP21A2 gene (CTG>TTG, p.V281L). We conclude that a marked ACTH drive was able to override insufficient 21-hydroxylation and even to cause hypercortisolism. Although we describe a rare case, the impairment of the glucocorticoid feedback system in the context of congenital adrenal hyperplasia and other diseases may contribute to the development of secondary hypercorticotropinism as well as corticotropin producing adenomas.
PMID: 21646730 [PubMed - indexed for MEDLINE]
Gliomagenesis: a game played by few players or a team effort?
Front Biosci (Elite Ed). 2012;4:205-13
Authors: Mazzoleni S, Galli R
Abstract
Glioblastoma multiforme (GBM) represents the most aggressive and deadliest brain tumor of adults. To date, cell heterogeneity within GBM has been explained by the "hierarchical" model of tumorigenesis, aka the "cancer stem cell" hypothesis. In agreement with this model, only rare tumor cells, namely the cancer stem cells (CSCs), are responsible for GBM initiation and, as such, are considered the favored target of therapy. However, multiple evidence has recently indicated that tumor-initiating cells (TICs) may not represent a restricted and infrequent GBM component; rather, they might constitute most of the cells within the tumor bulk. Here we review several studies that recently shed new light on the process of gliomagenesis. We critically analyze the methodological inconsistencies and drawbacks that are causing protracted controversy in the field. Finally, we discuss the clinical implications and the novel therapeutic scenarios that have been put forward by the presence of functionally and molecularly distinct subpopulations of GBM-initiating cells within the same tumor.
PMID: 22201865 [PubMed - in process]
Witch nose: an embarassing metaphor for nasal tip dermoid cysts.
J Craniofac Surg. 2011 Sep;22(5):1948-51
Authors: Tatlidede S, Egemen O, Ozkaya O, Erol O
Abstract
Nasal dermoid cysts are one of the most frequent congenital pathologic lesions of the nasal area. These lesions may have intracranial extensions without any clinical evidence, which can be explained by the pathophysiologic development of the lesion, thought to be related to a delay or pause during the separation period of the dura and skin during embryogenesis. This factor is independent from the location and size of the lesion and may lead surgeons to misdiagnoses or inadequate treatments.In this article, 2 cases of nasal dermoid cysts localized at the tip of the nose are presented. Although these lesions can be seen anywhere from the root to the columella, nasal tip location is rare in previously published series. In the cases presented in this study, both patients are school-aged and are faced with social and psychologic problems, as their friends call them "witch nose," in reference to the lesion at the tip of the nose. Vertical tip incision for complete excision of these lesions was performed after accurate radiologic imaging of the brain and possible intracranial extension. No complications or recurrence was seen in either patient.Although the treatment of dermoid cysts is surgical, operative planning should be made after complete physical and radiologic examinations. As the lesion may lead to psychologic and social problems because of its appearance, especially in children, therapy should not be delayed.
PMID: 21959478 [PubMed - indexed for MEDLINE]
Osteoradionecrosis of the skull after radiation therapy for invasive carcinoma.
J Craniofac Surg. 2011 Sep;22(5):1677-81
Authors: Nguyen MT, Billington A, Habal MB
Abstract
Osteoradionecrosis (ORN) of the skull is a rare but fatal complication of radiation therapy for the treatment of head and neck malignancies. The pathogenesis of ORN follows the "3Hs Theory" proposed by Marx (J Oral Maxillofac Surg 1983;41:283-288) in which radiation induces tissue injury by causing vessel thrombosis (hypovascularity), which leads to hypoxia, and results in cell death of the skin and the underlying structure of the bony element (hypocellularity) including the deep visceral structures. This note details a patient with severe and extensive ORN of the parietooccipital region of the skull because of a large dose of radiation therapy for the treatment of an invasive basal cell carcinoma of the scalp. The patient's condition was further complicated by an extensive infection with methicillin-resistant Staphylococcus aureus, which leads to meningitis and cerebral edema as well as cerebritis. The patient was successfully treated with interdisciplinary medical and surgical aggressive therapy and radical procedures involving 4 separate trips to the operating room for an 18-month period. Success was achieved because of early clinical diagnosis of ORN, aggressive eradication of infected and necrotic tissues including the brain, and restoration of functioning and viable tissues through the use of local flaps to change an open wound to a closed wound.
PMID: 21959411 [PubMed - indexed for MEDLINE]
Primary malignant melanoma of the vagina with repeated local recurrences and brain metastasis.
J Chin Med Assoc. 2011 Aug;74(8):376-9
Authors: Lin LT, Liu CB, Chen SN, Chiang AJ, Liou WS, Yu KJ
Abstract
Malignant melanoma of the vagina, a very rare malignancy, has a notoriously aggressive behavior associated with a high risk of local recurrence and distant metastasis. At present, there are various treatment options for this disease but no standard guideline. We describe a case of a 54-year-old woman with a locally advanced melanoma of the vagina, who underwent radical surgery, biochemotherapy with interferon-α-2b, chemotherapy, radiotherapy, and repeat excision of local recurrent lesions and brain metastasis. In conclusion, malignant melanoma of the vagina has a high risk for local recurrence. Repeated local excision followed by biochemotherapy is a tolerable treatment.
PMID: 21872820 [PubMed - indexed for MEDLINE]
Multiple intraosseous inflammatory myofibroblastic tumors presenting with an aggressive clinical course: case report.
Neurosurgery. 2011 Oct;69(4):E1010-5; discussion E1015-6
Authors: Sasagawa Y, Akai T, Itou S, Iizuka H
Abstract
BACKGROUND AND IMPORTANCE: The authors report a rare case of multiple intraosseous inflammatory myofibroblastic tumors presenting with an aggressive clinical course.
CLINICAL PRESENTATION: A 60-year-old man presented with a 3-month history of headache and 2 weeks of jaw pain. Magnetic resonance imaging showed a homogeneously enhancing mass in the right parietal bone with subcutaneous and intracranial invasion. Bone scintigraphy revealed 4 intraosseous lesions involving the cranium, mandible, ischium, and calcaneum. After admission, the patient showed left hemiparesis and seizures caused by rapid intracranial tumor extension. The cranial and mandible tumors were resected. Histopathological examinations of both specimens revealed myofibroblastic spindle cell proliferation with inflammatory cell infiltration, and a diagnosis of inflammatory myofibroblastic tumor was made. Two days postoperatively, the patient presented with a high fever and disturbance of consciousness with swelling of the subcutaneous tissues of the head and mandibular lesions. Magnetic resonance imaging revealed a massive intracranial extension of the tumor. Corticosteroid therapy induced remarkable shrinkage of all lesions, and relief from symptoms was obtained. Radiotherapy was then performed for residual tumors.
CONCLUSION: Multiple intraosseous inflammatory myofibroblastic tumors of the bone are very uncommon and may mimic malignant tumors. It is important to recognize that this entity can occur in the cranium and as multiple bony lesions. The recommended treatment is complete surgical resection with adjuvant steroid treatment. Considering the aggressive nature of this entity, additional chemo- and/or radiotherapy may be warranted.
PMID: 21572361 [PubMed - indexed for MEDLINE]
Malignant meningiomas with epithelial (adenocarcinoma-like) metaplasia: a study of 3 cases.
Neurosurgery. 2011 Oct;69(4):884-92
Authors: Patil S, Scheithauer BW, Strom RG, Mafra M, Chicoine MR, Perry A
Abstract
BACKGROUND: Meningiomas exhibit a wide range of histomorphologic features, including variable mesenchymal and epithelioid phenotypes. Meningiomas also represent the most common host tumors for systemic metastases, particularly carcinomas. Recently, however, 3 unique dural-based neoplasms were encountered, wherein malignant-appearing gland-like structures were intermixed with meningothelial elements, yet genetic data suggested epithelial metaplasia rather than metastatic carcinoma.
OBJECTIVE: To describe and characterize a rare meningioma pattern with potential diagnostic pitfalls.
METHODS: In addition to routine clinical, radiologic, and histopathological analyses, cases were studied with immunohistochemistry and fluorescence in situ hybridization (FISH) to elucidate the origins of 2 seemingly disparate tumoral components.
RESULTS: Immunohistochemistry confirmed an epithelial ontogeny of gland-like structures, with extensive CK7 positivity suggesting possible lung or breast primaries. However, identical losses of chromosomes 1p, 14q, and 22q in meningothelial and epithelial components were identified by FISH, an observation consistent with a monoclonal derivation and supporting the diagnosis of malignant meningioma with adenocarcinoma-like metaplasia. Although this phenomenon was reminiscent of gland-like metaplasia in secretory meningioma, it differed in that the gland-forming cells were cytologically malignant, formed extracellular rather than intracellular lumina, and were unassociated with pseudopsammoma bodies. Nevertheless, intermingled secretory and adenocarcinoma-like features were seen in one case, suggesting some relationship between these 2 forms of epithelial metaplasia.
CONCLUSION: Recognition of adenocarcinoma-like metaplasia in meningiomas can prevent a misdiagnosis of metastatic carcinoma, with all its associated implications for patient management.
PMID: 21558975 [PubMed - indexed for MEDLINE]
Syndromes Predisposing to Pediatric Central Nervous System Tumors: Lessons Learned and New Promises.
Curr Neurol Neurosci Rep. 2011 Dec 29;
Authors: Villani A, Malkin D, Tabori U
Abstract
Central nervous system (CNS) neoplasms are a leading cause of morbidity and mortality among children with cancer. In contrast to adults, a genetic basis for brain tumors is relatively common in children. A child harboring a germline mutation in a cancer-related gene will be predisposed to develop CNS tumors. These cancer predisposition syndromes are rare but pose overwhelming clinical and psychosocial challenges to families and the treating team. Recent significant advances in our understanding of the biological processes that govern these genetic conditions combined with international efforts to define and treat clinical aspects of these tumors are transforming the lives of these individuals. In this article, we summarize recent progress made for each of the major CNS tumor syndromes. We discuss the biological and clinical relevance of such advances, and suggest a comprehensive approach to a child affected by a predisposition to brain tumors.
PMID: 22205236 [PubMed - as supplied by publisher]
Diffusion tensor images and magnetic resonance spectroscopy in primary central nervous system T-cell lymphoma: a case report.
Acta Neurol Taiwan. 2011 Mar;20(1):59-64
Authors: Liao MF, Toh CH, Kuo HC, Chu CC, Jung SM, Huang CC
Abstract
PURPOSE: Primary central nervous system lymphoma (PCNSL) is rare and usually B cell in origin. T-cell lymphoma constitutes only 1.8% to 4.6% of the PCNSL, and may present as solitary or multiple homogeneous enhanced lesions. There have been few reports showing unusual leukoencephalopathy in PCNSL, which may be confused with other white matter diseases including multiple sclerosis and acute disseminated encephalomyelitis.
CASE REPORT: We reported a patient with T-cell PCNSL who presented a progressive dull response and extrapyramidal symptoms. Brain magnetic resonance imaging showed multiple focal leukoencephalopathy. Diffusion weighted imaging demonstrated hyper-intensity lesions and apparent diffusion coefficient images showed hypo-intensity lesions. Diffuse tensor images showed decreased fractional anisotropy. Pathology examination finally confirmed T-cell lymphoma.
CONCLUSION: Although recent development of neuro-imaging studies, the diagnosis of PCNSL still await further pathological confirmation in some occasions.
PMID: 21249594 [PubMed - indexed for MEDLINE]
A Case Study of a Patient with Gliosarcoma with an Extended Survival and Spinal Cord Metastases.
Cell Biochem Biophys. 2011 Dec 25;
Authors: Chen L, Xiao H, Xu L, Zou Y, Zhang Y, Xu M
Abstract
Gliosarcoma is a rare brain tumor consisting of both glial and mesenchymal components. Metastatic gliosarcoma is rare; however, here we report a 31-year-old Chinese woman with cranial gliosarcoma metastatic to the liver, lymph nodes and the spinal cord. Initially, the patient presented with dizziness, headache and vomiting and after surgery and histological examination, was diagnosed with cranial gliosarcoma. The patient was treated with surgical resection followed by chemotherapy and radiotherapy. Three years after completing treatment, the patient again presented with similar symptoms with the addition of a seizure. Test revealed recurrence of the gliosarcoma, and the same treatment was prescribed. Three years after treatment completion, the patient again presented with dizziness and headache. Masses at the right temple and in the right side of the neck were found. Tumors were surgically removed from the brain, skull, scalp and neck, the latter three diagnosed as metastatic gliosarcomas. The patient received both chemotherapy and radiotherapy following resection. One month after treatment, bone scans revealed possible metastasis in the right skull, lumbar and left ileum, soft neck tissue, lungs, collarbone, humeri, vertebrae, liver and abdominal lymph nodes. No further therapy was recommended due to the poor condition of the patient. The patient died 5 months later.
PMID: 22198898 [PubMed - as supplied by publisher]
Isolated recurrence of intracranial and temporal bone myeloid sarcoma.
Neurol Med Chir (Tokyo). 2011;51(12):850-4
Authors: Murakami M, Uno T, Nakaguchi H, Yamada SM, Hoya K, Yamazaki K, Ishida Y, Matsuno A
Abstract
A 52-year-old man presented with a rare case of isolated recurrence of myeloid sarcoma (MS) manifesting as rapidly growing intracranial and temporal bone masses 5 years after complete remission (CR) of acute myeloid leukemia (AML) (M2 in the French-American-British classification). Magnetic resonance imaging and computed tomography of the head revealed enhanced mass lesions on the superior aspect of the right petrous bone and within the right mastoid air cells, extending into the right middle ear cavity without bone destruction. Peripheral blood testing found no evidence of relapse. As the right temporal bone mass showed significant growth into the right temporal lobe over one month and diagnostic tissue was not available, he was admitted to our department for biopsy. On admission, blood testing showed relapse of AML and tumoral hemorrhage in the right temporal lobe. Emergent evacuation of the hematoma and biopsy of the right temporal lobe tumor was performed, resulting in a diagnosis of MS. Chromosomal analysis of the peripheral blood identified t(8;21)(q22;q22) abnormality. Before initiation of anti-AML chemotherapy, tumoral bleeding occurred again and he died 12 days after the operation of brain herniation. Autopsy revealed leukemia cell infiltrations in the perivascular region of the peritumoral brain parenchyma associated with hemorrhage, indicating vascular damage caused by leukemic cell infiltration from MS induced cerebral hemorrhage. Although relapse after 5 years of CR is uncommon in patients with AML, the possibility of MS recurrence must be considered.
PMID: 22198109 [PubMed - in process]
Duodenal metastasis of alveolar soft part sarcoma.
JBR-BTR. 2011 Sep-Oct;94(5):287-9
Authors: Willekens I, Paradisi C, Sarria L, Puertas A, Pac J, Mayayo E
Abstract
Aveolar soft part sarcoma is a rare tumor responsible for about 1% of all soft tissue sarcomas, affecting mostly adolescents and young adults. ASPS has curious patterns of metastatic spread, with seldom lymph node involvement. Lung, bone and brain are the most common metastatic places. Small bowel metastasis are infrequent, having found reported only one case of duodenal metastasis with polypous appearance. We describe a case of duodenal metastasis presenting as abdominal mass five years after initial diagnosis of alveolar soft part sarcoma.
PMID: 22191294 [PubMed - in process]
Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.
J Clin Endocrinol Metab. 2011 Nov;96(11):E1905-14
Authors: Farrell WE, Azevedo MF, Batista DL, Smith A, Bourdeau I, Horvath A, Boguszewski M, Quezado M, Stratakis CA
Abstract
CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is caused by mutations in the menin (MEN1) gene. The mechanism(s) by which MEN1 mutations lead to pituitary tumor formation remain(s) unknown.
OBJECTIVE: The aim of the study was to identify the pediatric MEN1-associated pituitary tumor transcriptome.
PATIENTS AND METHODS: A patient harboring a MEN1 mutation (c.525C>G; p.H139D) who presented with an early-onset mammosomatotroph pituitary adenoma was studied. Microarray analysis was performed in the tumor sample and compared with the profile observed in normal pituitaries and in a sporadic mammosomatotropinoma. Validation of the microarray results was performed using quantitative real-time PCR and immunohistochemical analysis for selected genes.
RESULTS: In the MEN1-associated pituitary adenoma, 59 and 24 genes were found to be significantly up- and down-regulated, respectively. The up-regulated genes included those involved in cell growth and maintenance, apoptosis, growth arrest, and tumorigenesis. Moreover, we observed decreased expression in genes neuroendocrine in nature and related to growth or apoptosis. Only 21 of the 59 genes differentially expressed in the MEN1-associated adenoma showed a similar expression profile to that seen in the sporadic mammosomatotropinoma; for some genes an opposite expression profile was observed.
CONCLUSIONS: We identified changes in the transcriptome that occur in pituitary GH- and PRL-producing cells after the loss of menin expression; some of the gene changes are necessary for tumor evolution, and others may be tertiary. Nevertheless, the rare overlap between the expression profiles of the MEN1 tumor vs. that of its sporadic counterpart suggests that these tumors evolve along different molecular pathways.
PMID: 21917868 [PubMed - indexed for MEDLINE]
37-year-old woman with multiple intracranial masses.
Brain Pathol. 2011 Sep;21(5):607-10
Authors: Jiang WX, Zheng SQ, Wang PJ
Abstract
Extramedullary hematopoiesis (EMH), defined as the presence of hematopoiesis outside bone marrow and peripheral blood, occurs asa compensatory phenomenon in several hematologic disorders and bone marrow dysfunction. EMH predominantly affects reticuloendothelial system including the spleen, liver and lymph nodes. Here,we report a rare case of multiple intracranial meningeal EMH. A37-year-old woman was anemic with gradually worsening vision for 8 months. Multiple extra-axial masses were found on imaging and the patient underwent the biopsy for the left frontotemporal lesion.Final diagnosis was multiple intracranial meningeal EMH. Treatment of fractionated external beam radiotherapy resulted in marked symptomatic improvement. This case indicates that although the diagnosis of meningeal EMH is difficult, there is a need to consider EMHin the differential diagnosis of anemic patients with tumor-like mass lesions in extramedullary sites.
PMID: 21854477 [PubMed - indexed for MEDLINE]
Deep brain stimulation for treatment of hemichorea-hemiballism after craniopharyngioma resection: long-term follow-up.
J Neurosurg. 2011 Nov;115(5):966-70
Authors: Capelle HH, Kinfe TM, Krauss JK
Abstract
Hemichorea-hemiballism is a rare movement disorder that has various causes. In treatment-resistant cases, both thalamic and pallidal functional procedures have been shown to yield beneficial results. Until now it has not been clarified whether the thalamus or the pallidum would yield a superior outcome. After resection of a craniopharyngioma in this patient at the age of 49 years, hemichorea-hemiballism developed, with a latency of several weeks. Because the patient was greatly impaired by the movement disorder, she underwent implantation of deep brain stimulation (DBS) electrodes in the thalamic ventralis intermedius nucleus and the posteroventral lateral globus pallidus internus. Although both pallidal and thalamic stimulation could suppress the movement disorder, the voltage needed was clearly less with thalamic than with pallidal stimulation. At the last available follow-up 25 months postoperatively, complete subsidence of hemichorea-hemiballism was achieved with long-term thalamic stimulation. Long-term DBS therapy is an efficient treatment modality for refractory hemichorea-hemiballism in the long run (> 2 years). A bifocal (thalamic and pallidal) target paradigm allowed selection of the optimal stimulation site. Thalamic DBS was more favorable with regard to energy consumption.
PMID: 21819190 [PubMed - indexed for MEDLINE]
Lateral posterior fossa encephalocele with associated migrational disorder of the cerebellum in an infant.
J Neurosurg Pediatr. 2011 Nov;8(5):479-83
Authors: Hamilton KM, Wiens AL, Fulkerson DH
Abstract
Encephaloceles are acquired or congenital defects in which intracranial contents protrude through a defect in the calvaria. The embryogenesis of these lesions is incompletely understood. The vast majority of lesions occur at or near the anatomical midline. The authors present an extremely rare case of a laterally oriented, pathologically proven encephalocele associated with a posterior fossa cyst and cerebellar migrational defect in an infant. The authors review past and current theories of encephalocele formation as it relates to this case.
PMID: 22044373 [PubMed - indexed for MEDLINE]
Treatment of a supratentorial primitive neuroectodermal tumor using magnetic resonance-guided laser-induced thermal therapy.
J Neurosurg Pediatr. 2011 Nov;8(5):468-75
Authors: Jethwa PR, Lee JH, Assina R, Keller IA, Danish SF
Abstract
Supratentorial primitive neuroectodermal tumors (PNETs) are rare tumors that carry a poorer prognosis than those arising from the infratentorial compartment (such as medulloblastoma). The overall prognosis for these patients depends on several factors including the extent of resection, age at diagnosis, CSF dissemination, and site in the supratentorial space. The authors present the first case of a patient with a newly diagnosed supratentorial PNET in which cytoreduction was achieved with MR-guided laser-induced thermal therapy. A 10-year-old girl presented with left-sided facial weakness and a large right thalamic mass extending into the right midbrain. The diagnosis of supratentorial PNET was made after stereotactic biopsy. Therapeutic options for this lesion were limited because of the risks of postoperative neurological deficits with resection. The patient underwent MR-guided laser-induced thermal ablation of her tumor. Under real-time MR thermometry, thermal energy was delivered to the tumor at a core temperature of 90°C for a total of 960 seconds. The patient underwent follow-up MR imaging at regular intervals to evaluate the tumor response to the thermal ablation procedure. Initial postoperative scans showed an increase in the size of the lesion as well as the amount of the associated edema. Both the size of the lesion and the edema stabilized by 1 week and then decreased below preablation levels at the 3-month postsurgical follow-up. There was a slight increase in the size of the lesion and associated edema at the 6-month follow-up scan, presumably due to concomitant radiation she received as part of her postoperative care. The patient tolerated the procedure well and has had resolution of her symptoms since surgery. Further study is needed to assess the role of laser-induced thermal therapy for the treatment of intracranial tumors. As such, it is a promising tool in the neurosurgical armamentarium. Postoperative imaging has shown no evidence of definitive recurrence at the 6-month follow-up period, but longer-term follow-up is required to assess for late recurrence.
PMID: 22044371 [PubMed - indexed for MEDLINE]
Sellar paraganglioma: a unique route to a rare destination case report and literature review.
Clin Neurol Neurosurg. 2011 Oct;113(8):675-7
Authors: Albert A, Ramirez JA, Codere F, Petrecca K
Abstract
OBJECTIVE: Paragangliomas of the sella are rare; 14 cases have been reported in the literature. We describe here the unique case of a sellar paraganglioma that extended into the orbit through the superior orbital fissure. We have also reviewed all reported cases of sellar paragangliomas to better define best management strategies.
CLINICAL PRESENTATION: A 63-year-old male presented with left eye proptosis and conjunctival vessel dilatation.
INTERVENTION: Resection of the intraorbital component of the tumor was accomplished using a transcranial-transorbital approach.
CONCLUSION: This is the first report of a sellar/parasellar paraganglioma extending into the orbit through the superior orbital fissure. While an appropriate treatment paradigm has not been established, a review of all previously reported cases suggests that radiotherapy is an important consideration.
PMID: 21550714 [PubMed - indexed for MEDLINE]
Extramedullary spinal ependymoma: a diagnostic challenge and review of the literature.
Clin Neurol Neurosurg. 2011 Oct;113(8):661-4
Authors: Kinsman MJ, Callahan JD, Hattab EM, Cohen-Gadol AA
Abstract
Of the 15 cases of intradural extramedullary ependymomas in the literature, only 3 patients were male. The authors report the fourth case to be diagnosed in a male patient and discuss the pathogenesis, presentation, and treatment of this rare form of ependymoma. These cases most commonly show a similar clinical preoperative course to that of a benign meningioma. Although most instances have been reported in females, hormonal influence may not completely explain this neoplasm's pathogenesis. Close follow-up is warranted because of potential recurrence, metastasis, and anaplastic transformation. An ependymoma should be included in the differential diagnosis of intradural extramedullary tumors.
PMID: 21435777 [PubMed - indexed for MEDLINE]
Sudden Death Due to Undiagnosed T Lymphoblastic Leukemia/Lymphoma in a 5-Year-Old Boy.
Am J Forensic Med Pathol. 2011 Dec 16;
Authors: Stoecker MM, Wang E, Simmons S
Abstract
ABSTRACT: Undiagnosed neoplasms in childhood are rare causes of sudden and unexpected death. Deaths due to undiagnosed hematologic malignancies are limited to a small number of case reports. The following case of acute leukemia was diagnosed at forensic autopsy in a 5-year-old boy with no significant past medical history. He complained of nausea and vomiting 2 days before his death, with the subsequent development of fever. Meningitis was the initial suspected cause of death. Findings at autopsy included a 100% cellular bone marrow with greater than 95% blasts. Hemorrhages involving the cerebrum, pons, epicardium, lungs, and thymus were present. Prominent leukemic infiltrates and leukostasis were present in the brain, heart, lungs, spleen, hilar lymph nodes, liver, and kidneys. A peripheral blood smear and automated blood cell count showed a white blood cell count of 435 × 10/L with greater than 80% circulating blasts. Immunohistochemical stains confirmed the diagnosis of T lymphoblastic leukemia/lymphoma. Given these circumstances, the diagnosis of acute leukemia should be considered when an intracerebral hemorrhage and/or visceral hemorrhages are identified on internal examination for appropriate collection of tissue for smears and microscopic examination. This case also highlights the uncommon, although serious, risks associated with acute lymphoblastic leukemia and hyperleukocytosis.
PMID: 22182985 [PubMed - as supplied by publisher]
[A case of intravascular malignant lymphoma with initial progressive non-specific neurological symptoms].
Rinsho Shinkeigaku. 2011 Oct;51(10):751-5
Authors: Kanda E, Nishina T, Muranishi T, Hasegawa K, Asano A, Hamada H
Abstract
A 79-year-old woman was admitted to a nearby hospital for seven days due to low-grade fever, loss of appetite and general fatigue. She was diagnosed with normal condition and discharged. She was admitted to our hospital one week later with disturbed consciousness. Laboratory findings upon admission revealed anemia, elevated alanine amino transferase, elevated total birirubin and thrombocytopenia. Abdominal CT demonstrated multiple low intensity lesions in the liver. Enhanced brain CT revealed multiple lesions with increased signal intensity lesions in the white matter and cortex. The value of soluble IL-2 receptor antibody was 16,000U/ml. Intravascular lymphoma was suspected because of brain CT finding and IL-2 receptor antibody titer. Methylprednisolone pulse therapy was started considering her age and general condition, but she was died thirteen days after admission. Postmorten examination revealed widespread intravascular aggregation of malignant lymphoma cells in the liver, spleen, bone marrow, bladder, ovary and stomach indicating a diagnosis of an Asian variant of intravascular large B cell lymphoma (AIVL). Neurological abnormalities are not usually associated with AIVL, but this patient had rare AIVL presenting with initial progressive nonspecific neurological symptoms.
PMID: 22019866 [PubMed - indexed for MEDLINE]
Solitary fibrous tumor of the central nervous system: report of an additional 5 cases with comprehensive literature review.
Int J Surg Pathol. 2011 Aug;19(4):476-86
Authors: Bisceglia M, Dimitri L, Giannatempo G, Carotenuto V, Bianco M, Monte V, D'Angelo V, Magro G
Abstract
Solitary fibrous tumor (SFT) of the central nervous system was first described in 1996. A number of cases have been reported since. The authors present 5 new cases: 4 intracranial and 1 intraspinal. All patients were adults (age range, 47 to 75 years); 4 were male and 1 female; 4 cases were primary tumors; and 1 was a second tumor recurrence. All patients were surgically treated with gross total removal. All cases were histologically examined with immunohistochemical confirmation; 2 tumors exhibited diffuse classic histology, 1 tumor was a cellular variant, 1 tumor was myxoid, and 1 was predominantly classic with focal myxoid features and focally pleomorphic. The postoperative course was uneventful in all. The patient with the cellular variant experienced 2 local recurrences and eventually died of disease 10 years after the initial diagnosis. The patient with the myxoid variant--the tumor studied--which was the second recurrence of a previously misdiagnosed fibrous meningioma surgically treated 15 years earlier, had a recurrence after 2 years for the third time and eventually died of disease. Three patients are alive and well 11.6, 6, and 4 years after surgery. SFT is a rare tumor that needs to be differentiated from some mimickers, mainly fibrous meningioma, hemangiopericytoma, and with regard to the myxoid variant, also adult-onset myxochordoid meningioma and myxoid peripheral nerve sheath tumor. Immunohistochemistry is crucial for the correct diagnosis of SFT. The authors also performed a review of the literature and found a little more than 200 cases on record.
PMID: 21878477 [PubMed - indexed for MEDLINE]
Rare metastases of differentiated thyroid carcinoma: pictorial review.
Endocr Relat Cancer. 2011 Oct;18(5):R165-74
Authors: Song HJ, Xue YL, Xu YH, Qiu ZL, Luo QY
Abstract
Differentiated thyroid cancer (DTC) is usually indolent with good prognosis and long-term survival. However, DTC distant metastasis is often a grave event and accounts for most of its disease-specific mortality. The major sites of distant metastases are the lung and bone. Metastases to the brain, breast, liver, kidney, muscle, and skin are rare or relatively rare. Nevertheless, recognizing rare metastases from DTC has a significant impact on the clinical decision making and prognosis of patients. (131)I single photon emission computed tomography/computed tomography ((131)I-SPECT/CT) can provide both metabolic and anatomic information about a lesion; therefore, it can better localize and define the (131)I-WBS findings in DTC patients. In this pictorial review, the imaging features of a range of rare metastases from DTC are demonstrated, with a particular emphasis on the (131)I-SPECT/CT diagnostic aspect.
PMID: 21632805 [PubMed - indexed for MEDLINE]
The biological basis for modern treatment of chordoma.
J Neurooncol. 2011 Sep;104(2):411-22
Authors: Diaz RJ, Cusimano MD
Abstract
Chordomas are rare malignant tumors arising in bone of the spheno-occiput, sacrum, and vertebral column which can cause neurological deficit. Current management of chordoma involves safe resection followed by radiation therapy. However, surgical resection is often subtotal and chordoma often recurs despite optimal therapy. Despite years of effort, effective adjuvant therapy for denovo, recurrent and metastatic chordoma are absent and 5-year survival is at best 65%. While no chemotherapeutic agent has been demonstrated to be effective against chordoma in vivo, a greater understanding of the genetics and molecular biology of chordoma is opening up avenues of investigation towards the rational development of targeted therapies. Although enthusiasm for the use of already established or new investigational agents will increase with greater understanding of chordoma biology, laboratory studies of these agents are important prior to incorporation into clinical human trials. The authors review the current state of knowledge regarding chordoma and offer insight into potential new therapies for this rare and challenging tumor.
PMID: 21384217 [PubMed - indexed for MEDLINE]
[Intracranial tuberculoma simulating a malignant tumor: Case report and literature review.]
Neurocirugia (Astur). 2011 Nov;22(6):600-604
Authors: Álvarez-Salgado JA, Ruiz-Ginés JA, Fuentes-Ventura CD, Gonzales-Sejas AG, Belinchón de Diego JM, González-Llanos Fernández de Mesa F, Rodríguez de Lope-Llorca A
Abstract
INTRODUCTION. Extrapulmonary manifestations of tuberculosis involving the central nervous system (CNS) due to haematogenous spread are not a rare entity. Tuberculoma is a granulomatous inflammatory process mimicking in rare occasions a malignant neoplasm radiologically. The authors report a case of a giant right frontal tuberculoma mimicking a malignant tumor and review the literature. CASE REPORT. A sixtyfour-year-old women with several weeks of headache and behavior alterations admitted at the hospital with light right hemiparesis. The MRI showed a left frontal tumor suggestive of a malignant tumor. CT showed bone infiltration. At surgery, a nodular, avascular lesion was found and pathological examination confirmed granulomatous inflammation suspecting tuberculoma. Mycobacterium tuberculosis complex-specific PCR assay confirmed diagnosis. Intracranial tuberculoma is an uncommon variety of central nervous system tuberculosis. The prognosis is related to the early diagnosis, surgical resection and the complementary antituberculosis treatment. CONCLUSIONS. We present the unusual presentation of a giant brain tuberculoma which MRI led us to believe was a malignant tumor. Computed Tomography revealed bone infiltration. Positive diagnosis could be established on the basis of the pathology results of a brain biopsy or detection of DNA of Mycobacterium tuberculosis in the PCR study.
PMID: 22167292 [PubMed - as supplied by publisher]
Lung carcinoma metastasis presenting as a pineal region tumor.
Neurocirugia (Astur). 2011 Dec;22(6):579-82
Authors: Samanci Y, Iplikcioglu C, Ozek E, Ozcan D, Marangozoglu B
Abstract
The pineal region is an unusual site for brain metas¬tasis and most metastatic pineal lesions are asymptoma-tic. A 53 year-old man presented with severe headache, limitation of upward gaze and diplopia. The patient's neurological examination was unremarkable. Magnetic resonance imaging (MRI) scans of the brain demonstrated a 1.5 x 2 cm well demarcated solitary mass in the pineal region with hydrocephalus. Surgery was performed and adenocarcinoma was diagnosed. A systemic investigation revealed adenocarcinoma of the lung as primary lesion. Although rare, metastatic tumor should be considered in the differential diagnosis of pineal region tumors.
PMID: 22167289 [PubMed - in process]
Preliminary experience with personalized and targeted therapy for pediatric brain tumors.
Pediatr Blood Cancer. 2011 Dec 11;
Authors: Wolff JE, Brown RE, Buryanek J, Pfister S, Vats TS, Rytting ME
Abstract
BACKGROUND: A new generation of anticancer drugs has reached clinical care in common diseases, but their use in rare diseases such as pediatric brain tumors lags behind since conventional clinical trial design requires larger patient numbers. PROCEDURE: We designed individualized treatment protocols for pediatric patients with relapsed brain tumors, based upon the patient's treatment history. In addition, each tumor was analyzed with morphoproteomics using a panel of markers to show treatment targets, resulting in a list of potential novel drugs to be added to chemotherapy. Here, we present the concept and report the experiences of the first patients enrolled in the program. RESULTS: Eleven treatment protocols were designed using morphoproteomic information and given to eight patients. The histological diagnoses included: medulloblastoma (n = 3), glioblastoma multiforme (n = 2), atypical teratoid rhabdoid tumor (n = 1), choroid plexus carcinoma (n = 1), and primitive neuroectodermal tumors (n = 1). Tumor markers included p-ERK, Topoisomerase IIa, Bcl-2, VEGF-A, p-STAT3, ER-beta, p-mTOR, and p-NF-kappaBp65. The novel agents included sorafenib, bevacizumab, fulvestrant, rapamycin, bortezomib, and curcumin. The response to the first protocol was complete response: 1, partial response: 1, stable disease: 0, progressive disease: 4, and continuous complete remission: 2. The median Event-Free Survival was 0.32 year ± 0.4. For the comparison with the institutional control group, the individual response probability was calculated. The observed response was superior to the historical controls (P = 0.006 Whitman U-test). CONCLUSION: This approach warrants further, systematic evaluation as proof of concept and then expansion to drug-specific hypotheses. Pediatr Blood Cancer © 2011 Wiley Periodicals, Inc.
PMID: 22162424 [PubMed - as supplied by publisher]
Anaplastic Oligodendroglioma Involving the Subcutaneous Tissue of the Scalp: Report of an Exceptional Case and Review of the Literature.
Am J Dermatopathol. 2011 Dec 6;
Authors: McLemore MS, Bruner JM, Curry JL, Prieto VG, Torres-Cabala CA
Abstract
Anaplastic oligodendroglioma [AO, World Health Organization (WHO) grade III] is an uncommon but aggressive tumor of the central nervous system that typically arises in adults. Clinically, patients present with seizures, and the prognosis is considered poor. Metastatic spread is extremely rare. We report an exceptional case of AO with extracranial scalp involvement, which arose in a patient with recurrent primary AO of the brain after chemoradiation, multiple cranial surgical resections, and subsequent scalp reconstruction. On histopathology, the subcutaneous tissue of the scalp contained several clusters and infiltrating cords of relatively small, epithelioid cells with hyperchromatic nuclei, scant eosinophilic cytoplasm, and perinuclear halos, which gave the cells a characteristic fried-egg appearance. By immunohistochemistry, the lesional cells were positive for glial fibrillary acidic protein and S-100. It is likely that surgical implantation and direct extracranial extension after craniotomy were the mechanisms responsible for dissemination of the patient's tumor.
PMID: 22157246 [PubMed - as supplied by publisher]
Sudden Asystole due to Trigeminocardiac Reflex During Transsphenoidal Surgery for Pituitary Tumor.
World Neurosurg. 2011 Nov;76(5):477.e11-5
Authors: Cho JM, Min KT, Kim EH, Oh MC, Kim SH
Abstract
BACKGROUND: A sudden attack of an asystolic phenomenon is an extremely rare event during transsphenoidal surgery (TSS). It may be caused by an extreme type of trigeminocardiac reflex (TCR) during the manipulation of the trigeminal nerve or its innervated structures.
CASE DESCRIPTION: We report two cases of sudden asystole and a case of severe bradycardia due to TCR during TSS. All patients were managed successfully by cessation of the surgical manipulation or with the injection of an anticholinergic agent.
CONCLUSIONS: Although TCR occurs rarely and usually is self-limiting, surgeons should be cautious of its occurrence, especially when manipulating the cavernous sinus during TSS. This allows the early detection and appropriate treatment of this manifestation. Stopping the surgical procedure as soon as TCR occurs is likely to normalize the vital parameters. In addition, if further manipulations are inevitable, the administration of anticholinergic medication should be considered cautiously to improve surgical outcomes.
PMID: 22152579 [PubMed - in process]
Adult-onset angiocentric glioma of epithelioid cell-predominant type of the mesial temporal lobe suggestive of a rare but distinct clinicopathological subset within a spectrum of angiocentric cortical ependymal tumors.
Neuropathology. 2011 Dec 8;
Authors: Miyata H, Ryufuku M, Kubota Y, Ochiai T, Niimura K, Hori T
Abstract
Angiocentric glioma (AG) is defined as an epilepsy-associated stable or slowly growing cerebral tumor primarily affecting children and young adults, histologically consisting mainly of monomorphic, bipolar spindle-shaped cells and occasional round to monopolar columnar epithelioid cells, showing angiocentric growth pattern and features of ependymal differentiation. We describe two clinicopathologically unusual cases of AG. Case 1 is a 54-year-old woman with a 10-year history of complex partial seizures. MRI revealed non-enhancing T1-low, T2/fluid-attenuated inversion recovery (FLAIR)-high intensity signal change in the left hippocampus and amygdala. After selective amygdalohippocampectomy, she had rare non-disabling seizures on medication for over 50 months (Engel's class I). Case 2 is a 37-year-old man with a 3-year history of complex partial seizures. MRI revealed non-enhancing T1-low, T2/FLAIR-high intensity signal change in the left uncus and amygdala. After combined amygdalohippocampectomy and anterior temporal lobectomy, he has been seizure-free for over 11 months. Histologically the tumors in both cases consisted mainly of infiltrating epithelioid cells (GFAP- ∼ ± , S-100-) with perinuclear epithelial membrane antigen (EMA)-positive dots and rings, showing conspicuous single- and multi-layered angiocentric arrangements. Occasional tumor cells showed spindle-shaped morphology (GFAP+, S-100+) with rare EMA-positive dots aligned radially and longitudinally along parenchymal blood vessels. Focal solid areas showed a Schwannoma-like fascicular arrangement with rare EMA-positive dots and/or sheets of epithelioid cells with abundant EMA dots. Electron microscopic investigation demonstrated features of ependymal differentiation. These cases, together with a few similar cases previously reported, appear to represent a rare but distinct clinicopathological subset of AG characterized by adult-onset, mesial temporal lobe localization and epithelioid cell-predominant histology.
PMID: 22151480 [PubMed - as supplied by publisher]
In vitro radiosensitizing effects of ultrasmall gadolinium based particles on tumour cells.
J Nanosci Nanotechnol. 2011 Sep;11(9):7833-9
Authors: Mowat P, Mignot A, Rima W, Lux F, Tillement O, Roulin C, Dutreix M, Bechet D, Huger S, Humbert L, Barberi-Heyob M, Aloy MT, Armandy E, Rodriguez-Lafrasse C, Le Duc G, Roux S, Perriat P
Abstract
Since radiotherapy is widely used in cancer treatment, it is essential to develop strategies which lower the irradiation burden while increasing efficacy and become efficient even in radio resistant tumors. Our new strategy is relying on the development of solid hybrid nanoparticles based on rare-earth such as gadolinium. In this paper, we then evidenced that gadolinium-based particles can be designed to enter efficiently into the human glioblastoma cell line U87 in quantities that can be tuned by modifying the incubation conditions. These sub-5 nm particles consist in a core of gadolinium oxide, a shell of polysiloxane and are functionalized by diethylenetriaminepentaacetic acid (DTPA). Although photoelectric effect is maximal in the [10-100 keV] range, such particles were found to possess efficient in-vitro radiosensitizing properties at an energy of 660 keV by using the "single-cell gel electrophoresis comet assay," an assay that measures the number of DNA damage that occurs during irradiation. Even more interesting, the particles have been evidenced by MTT assays to be also efficient radiosensitizers at an energy of 6 MeV for doses comprised between 2 and 8 Gy. The properties of the gadolinium-based particles give promising opening to a particle-assisted radio-therapy by using irradiation systems already installed in the majority of hospitals.
PMID: 22097494 [PubMed - indexed for MEDLINE]
Skin metastasis from sigmoid colon cancer.
Int Surg. 2011 Apr-Jun;96(2):135-8
Authors: Horiuchi A, Nozawa K, Akahane T, Shimada R, Shibuya H, Aoyagi Y, Nakamura K, Hayama T, Yamada H, Ishihara S, Matsuda K, Watanabe T
Abstract
Skin metastases from visceral cancers are rare and the reported incidence from all visceral cancers is 1.4% to 10%. Skin metastases from colorectal cancers account for only 5% of metastatic skin cancers, among which scalp metastases are very rare. We describe a 53-year-old man with scalp metastasis derived from sigmoid colon cancer that was diagnosed and surgically resected in 2005. Metastatic lung tumors that developed thereafter were surgically resected and then chemotherapy was administered. However, metastatic brain tumors occurred in 2008, and these were treated by gamma-knife radiosurgery. Around the same time, a raised lesion that appeared on the scalp was diagnosed as skin metastasis and treated with best supportive care. Thereafter, the brain metastases continued to spread, and the patient died in October 2008.
PMID: 22026304 [PubMed - indexed for MEDLINE]
[A case of metastatic choroid plexus tumor from cholangiocellular carcinoma].
No Shinkei Geka. 2011 Oct;39(10):991-7
Authors: Kurisu K, Kamoshima Y, Terasaka S, Kobayashi H, Kubota K, Houkin K
Abstract
Metastatic intraventricular tumor located in the choroid plexus is very rare. Only a few cases have been reported in the past. According to past reports, these tumors originated from lung, colon, and so on, but not from the bile duct. This is the first case report of choroid plexus metastasis from cholangiocellular carcinoma. A 57-year-old woman who had a history of cholagiocellular carcinoma, demonstrated intraventricular tumor. Although sufficient examination was performed, the tumor was difficult to diagnose as being a metastatic tumor or a choroid plexus carcinoma. Because of this, we performed endoscopic biopsy of the intraventricular tumor. However intraoperative findings were not helpful in distinguishing metastatic tumor and choroid plexus carcinoma. Postoperatively, histological examination was performed. However it was still difficult to differentiate this rare tumor from choroid plexus carcinoma by only hematoxylin and eosin stain. For further examination, Ber EP-4 stain was performed. Ber EP-4 showed strongly positive which indicates metastatic tumor. This method led us to make an appropriate diagnosis of this extremely rare tumor. We considered that in order to diagnose this rare tumor, appropriate histopathological examination, including immunohistopathological examination should be performed.
PMID: 21972189 [PubMed - indexed for MEDLINE]
[A case of primary T-cell central nervous system lymphoma (T-PCNSL) relevant to HTLV-I].
No Shinkei Geka. 2011 Oct;39(10):969-73
Authors: Uka A, Hamada Y, Akagi Y, Haga S, Shono T, Nagata S, Nakayama Y
Abstract
Primary T-cell lymphoma of the central nervous system lymphoma (T-PCNSL) is an extremely rare tumor. A human T-cell lymphoma virus type I(HTLV-I) associated adult TCL often involves the CNS during its course but disease limited to the CNS is exceptional. We report a case of a 63-year-old male with a highly malignant TCL localized in the bilateral cerebral hemispheres. The patient was HTLV-I positive but no systemic disease was detected after various examinations. We discuss the clinico-pathological features of TCL in the CNS reported in the literature including our case and compare them with those of B-cell lymphomas.
PMID: 21972186 [PubMed - indexed for MEDLINE]
Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma.
Clin Neuropathol. 2011 Sep-Oct;30(5):235-41
Authors: Santi M, Feygin T, Dougherty MJ, Biegel JA, Harding B
Abstract
Two unrelated female infants presented at 9 days and 2 months, respectively, with apneic episodes in the former and gaze preference in the latter. MRI revealed enlargement of almost the entire right hemisphere, apparently smooth cortex, simplification of the gyral pattern, and expanded white matter with abnormal signal intensity containing multiple intraparenchymal cysts. Histologic examination of both cases revealed white matter infiltration by a hypocellular lesion composed of uniform, fibrillary astrocytes in a microcystic background. Multilocular tumor cysts were prominent, but Rosenthal fibers and eosinophilic granular bodies were absent. Very rare mitoses were seen in the absence of necrosis or vascular change. There was no convincing cortical infiltration, but the subpial zone was diffusely expanded by a band of astrocytes set in a dense fibrillar feltwork which opened out into numerous cystic spaces. No desmoplastic changes or associated atypical ganglion cells were identified. There was no evidence for a BRAFKIAA1549 fusion or BRAF mutation in one case tested. In conclusion, both lesions are not desmoplastic infantile astrocytoma/ganglioglioma, fibrillary astrocytoma, or typical for pilocytic astrocytoma. Such extreme subpial spread with cysts is most unusual and may suggest a novel variant of infantile astrocytoma.
PMID: 21955927 [PubMed - indexed for MEDLINE]
Diagnostic utility of IDH1- and p53-mutation analysis in secondary gliosarcoma.
Clin Neuropathol. 2011 Sep-Oct;30(5):231-4
Authors: Romeike BF, Chen Y, Walter J, Petersen I
Abstract
We report on a 47-year-old woman in whom an anaplastic astrocytoma was resected in 2006. Postoperative radiation had to be interrupted because of a wound infection necessitating explantation of the infected bone flap and implantation of a titanium mesh. Subsequently, radiation therapy was completed and temozolomide was administered for 45 cycles. In the beginning of 2010 a new contrast enhancing mass was seen in the former tumor region. The mass was subtotally excised and showed no histomorphological similarity to the first lesion but represented a highly pleomorphic and mainly sarcomatoid differentiated malignant tumor. The lack of expression of GFAP or MAP-2 raised the question of a secondary malignancy, however, molecular genetic analysis of IDH1 and p53 revealed the same mutations in the anaplastic astrocytoma from 2006 as in the sarcomatoid tumor operated in 2010. Furthermore, accumulation of mutated IDH1 and TP53 protein could be demonstrated immunohistochemically. Thus, the second tumor represented the rare instance of recurrence of an anaplastic astrocytoma as a secondary gliosarcoma and a second malignant neoplasm was ruled out. The postoperative therapy and the inflammation might have contributed to the severe change in morphological phenotype of the glioma.
PMID: 21955926 [PubMed - indexed for MEDLINE]
Synchronous gastric and colonic metastases of invasive lobular breast carcinoma: case report and review of the literature.
Ann R Coll Surg Engl. 2011 Jul;93(5):e49-50
Authors: Critchley AC, Harvey J, Carr M, Iwuchukwu O
Abstract
Breast cancer is the most common malignancy in women and the main cause of cancer death in the UK. Gastrointestinal (GI) tract metastasis and carcinomatosis from primary breast cancer are rare but breast cancer is the second most common primary malignancy to metastasise to the GI tract after malignant melanoma. The metastatic patterns of invasive lobular carcinoma (ILC) and invasive ductal carcinoma (IDC) have been shown to differ considerably. Liver, lung and brain metastases are more common in IDC. Most series report a greater prediliction for lobular carcinoma to metastasise to the GI tract, gynaecological organs or peritoneum. The presentation of GI metastasis due to breast cancer is typically vague and the clinical, radiological, endoscopic and histopathologic findings are often difficult to distinguish from primary gastric carcinoma. Such a patient is more likely to present to a luminal surgeon or gastroenterologist than a breast surgeon. Therefore a high index of clinical suspicion with early endoscopy in those with non-specific symptoms and a past history of breast cancer, particularly ILC, are recommended. It is imperative to differentiate between metastatic breast cancer and primary gastric carcinoma as treatment strategies differ hugely. Therefore, correlation of endoscopic biopsy histology with the primary breast cancer histology is essential. Treatment modalities are limited to appropriate systemic therapy, which may have a palliative effect in up to 50%. Surgical intervention is nearly always limited to palliative bypass only. Prognosis is consistent with the median survival of all women with metastatic disease secondary to breast cancer.
PMID: 21943448 [PubMed - indexed for MEDLINE]
[Extraventricular neurocytoma: a rare cause of temporal lobe epilepsy].
Rofo. 2011 Nov;183(11):1065-6
Authors: Treier M, Doostkam S, Meckel S
PMID: 21915811 [PubMed - indexed for MEDLINE]
Age, gender, and racial differences in incidence and survival in primary CNS lymphoma.
Br J Cancer. 2011 Oct 25;105(9):1414-8
Authors: Villano JL, Koshy M, Shaikh H, Dolecek TA, McCarthy BJ
Abstract
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a rare subtype of extranodal non-Hodgkin lymphoma that accounts for ~4% of newly diagnosed central nervous system (CNS) tumours. The objective of this study was to analyse the epidemiology, incidence, and outcome of these rare tumours.
METHODS: Primary brain and CNS lymphoma cases were identified from the Surveillance, Epidemiology, and End Results (SEER) research data sets for the years 1980-2008 for analysis of trends in incidence and survival. SEER(*)Stat v. 7.0.4 software was used to analyse the data.
RESULTS: The overall incidence rate of PCNSL was 0.47 per 100,000 person-years. The incidence was significantly higher in males compared with females, blacks aged 0-49 years at diagnosis compared with whites, and whites aged 50 years and older at diagnosis compared with blacks. After a significant decline in incidence between 1995 and 1999, incidence rates rose slightly; those aged 75+ years at diagnosis had the most dramatic increase in incidence rates over time. Five-year survival rates were significantly higher in whites compared with blacks aged 0-49 years at diagnosis, but was primarily driven by white women aged 0-49 years.
CONCLUSION: There is an increase in incidence of PCNSL in the elderly, and elderly blacks have lower incidence compared with white population. Survival remains poor and is negatively dominated by factors associated with HIV infection and advanced age.
PMID: 21915121 [PubMed - indexed for MEDLINE]
Extremely rare but potential complication of diffuse brain edema due to air embolism during lung segmentectomy with selected segmental inflation technique by syringe needle during video-assisted thoracoscopic surgery.
J Thorac Cardiovasc Surg. 2011 Nov;142(5):e151-2
Authors: Otsuka T, Nakamura Y, Harada A, Sato M
PMID: 21872280 [PubMed - indexed for MEDLINE]
Solitary fibrous tumor of the central nervous system: a 15-year literature survey of 220 cases (August 1996-July 2011).
Adv Anat Pathol. 2011 Sep;18(5):356-92
Authors: Bisceglia M, Galliani C, Giannatempo G, Lauriola W, Bianco M, D'angelo V, Pizzolitto S, Vita G, Pasquinelli G, Magro G, Dor DB
Abstract
We reviewed the world literature on solitary fibrous tumors of the central nervous system from August 1996 to July 2011, focusing on both clinicopathological features and diagnostic findings. The anatomical distribution of the 220 cases reported so far reveals that most are intracranial and just over one-fifth are intraspinal. In decreasing frequency, intracranial tumors involve the supratentorial and infratentorial compartments, the pontocerebellar angle, the sellar and parasellar regions, and the cranial nerves. Intraspinal tumors are mainly located in the thoracic and cervical segments. Although most solitary fibrous tumors of the central nervous system are dural based, a small subset presents as subpial, intraparenchymal, intraventricular, or as tumors involving the nerve rootlets with no dural connection. Preoperative imaging and intraoperative findings suggest meningioma, schwannoma or neurofibroma, hemangiopericytoma, or pituitary tumors. Immunohistochemistry is critical to establish a definitive histopathological diagnosis. Vimentin, CD34, BCL2, and CD99 are the most consistently positive markers. The usual histologic type generally behaves in a benign manner if complete removal is achieved. Recurrence is anticipated when resection is subtotal or when the tumor exhibits atypical histology. The proliferative index as assessed by MIB1 labeling is of prognostic significance. Occasionally, tumors featuring conventional morphology may recur, perhaps because of minimal residual disease left behind during surgical extirpation. Rare extracranial metastases and tumor-related deaths are on record. Surgery is the treatment of choice. Stereotactic and external beam radiation therapy may be indicated for postsurgical tumor remnants and for unresectable recurrences. Long-term active surveillance of the patients is mandatory.
PMID: 21841406 [PubMed - indexed for MEDLINE]
Conformational transformation and selection of synthetic prion strains.
J Mol Biol. 2011 Oct 28;413(3):527-42
Authors: Ghaemmaghami S, Watts JC, Nguyen HO, Hayashi S, DeArmond SJ, Prusiner SB
Abstract
Prion protein is capable of folding into multiple self-replicating prion strains that produce phenotypically distinct neurological disorders. Although prion strains often breed true upon passage, they can also transform or "mutate" despite being devoid of nucleic acids. To dissect the mechanism of prion strain transformation, we studied the physicochemical evolution of a mouse synthetic prion (MoSP) strain, MoSP1, after repeated passage in mice and cultured cells. We show that MoSP1 gradually adopted shorter incubation times and lower conformational stabilities. These changes were accompanied by structural transformation, as indicated by a shift in the molecular mass of the protease-resistant core of MoSP1 from approximately 19 kDa [MoSP1(2)] to 21 kDa [MoSP1(1)]. We show that MoSP1(1) and MoSP1(2) can breed with fidelity when cloned in cells; however, when present as a mixture, MoSP1(1) preferentially proliferated, leading to the disappearance of MoSP1(2). In culture, the rate of this transformation process can be influenced by the composition of the culture media and the presence of polyamidoamines. Our findings demonstrate that prions can exist as a conformationally diverse population of strains, each capable of replicating with high fidelity. Rare conformational conversion, followed by competitive selection among the resulting pool of conformers, provides a mechanism for the adaptation of the prion population to its host environment.
PMID: 21839745 [PubMed - indexed for MEDLINE]
Posterior fossa dermoid with Klippel-Feil syndrome in a child.
Pediatr Neurol. 2011 Sep;45(3):197-9
Authors: Ramzan A, Khursheed N, Rumana M, Abrar W, Ashish J
Abstract
Intracranial dermoid tumors constitute a rare entity. Their association with Klippel-Feil anomaly is all the more rare. These lesions, if associated with dermal sinuses, receive attention when a patient presents with features of central nervous system infection. We describe a 5-year-old girl who presented with purulent discharge from an occipital dermal sinus with an infected posterior fossa dermoid associated with cerebellar abscesses and characteristic Klippel-Feil anomaly.
PMID: 21824571 [PubMed - indexed for MEDLINE]
Leptomeningeal carcinomatosis of gastric adenocarcinoma.
Turk J Gastroenterol. 2011;22(2):195-8
Authors: Bulut G, Erden A, Karaca B, Göker E
Abstract
Gastric cancer is the third most common malignancy among gastrointestinal malignancies. With the advance of new treatments, overall survival in gastric cancer is extending, and metastasis to atypical sites is seen more commonly. Leptomeningeal metastasis is one such atypical metastasis for gastric cancer. We report a case of gastric adenocarcinoma with leptomeningeal metastasis as an atypical involvement. A 39-year-old female, presenting with headache, vertigo, horizontal gaze palsy, visual disturbances, and seizures, was admitted to our hospital in August 2009. The funduscopic examination revealed the presence of bilateral papilledema. Magnetic resonance imaging of the brain showed diffuse leptomeningeal enhancement and biventricular dilatation. Cytological examination of the cerebrospinal fluid revealed malignant cells. These findings were consistent with leptomeningeal carcinomatosis. Six months before, she was diagnosed as having gastric cancer by upper gastrointestinal tract endoscopy, which was performed as a part of the diagnostic work-up to clarify the cause of her abdominal ascites. She received six cycles of docetaxel-cisplatin-5-fluorouracil for metastatic gastric cancer, and she developed the above-mentioned symptoms under chemotherapy. She was included in a craniospinal radiotherapy program and received intrathecal methotrexate treatment. We present this case report since leptomeningeal carcinomatosis of gastric cancers is a rare clinical entity, and treatment strategies remain challenging for clinicians.
PMID: 21796558 [PubMed - indexed for MEDLINE]
Conjunctival amelanotic melanoma--a case report.
Coll Antropol. 2011 Sep;35 Suppl 2:295-7
Authors: Kovacević D, Lukanović-Primc K, Markusić V, Babić MB, Ledić D
Abstract
Conjunctival melanoma is a relatively rare malignancy. It is presented as pigmented nodule in any area of conjunctiva, amelanotic tumors are pink with smooth appearance. The authors describe an amelanotic melanoma of the conjunctiva in an 82-year-old female patient. Cytological, histopathological and immunohistochemical studies revealed an invasive amelanotic melanoma exhibiting S-100 and MART-1 positivity. The patient undervent surgical and chemotherapy treatment and three years after the initial treatment is in the terminal stage of metastatic disease. Absence of pigmentation delayed early clinical detection and treatment. Awareness of this nonpigmented melanoma is crucial for early recognition and appropriate management.
PMID: 22220456 [PubMed - indexed for MEDLINE]
Aggressive multifocal form of epithelioid hemangioendothelioma--case report.
Coll Antropol. 2011 Sep;35 Suppl 2:289-93
Authors: Duletić-Nacinović A, Grohovac D, Dobrila-Dintinjana R, Brncić N, Jonjić N
Abstract
Epithelioid hemangioendothelioma (EHE) is a rare tumor of the vascular origin. It was first described in its pulmonary form by Dail and Leibow in 1975 and named "intravascular bronchioalveolar tumor" (IVBAT). Since then, reports of occurrences of the tumor have been made for number of locations, but most often tumor can be found in soft tissues, liver, lungs, bone and skin. It is considered to be a low or borderline malignant tumor with, usually, slow progression, but aggressive forms have been described. We here report a case of a 46-year old female patient with multifocal malignant tumor spreading to lungs, liver, spleen and with synchronous involvement of lumbal vertebrae, illiac bones and central nervous system dissemination. To the best of the authors knowledge, no case of malignant EHE with multiorgan involvement of this proportions and synchronous central nervous system and bone involvement in one patient has been reported to this date in English-speaking literature.
PMID: 22220455 [PubMed - indexed for MEDLINE]
Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.
Am J Surg Pathol. 2012 Jan;36(1):154-60
Authors: Carter JM, O'Hara C, Dundas G, Gilchrist D, Collins MS, Eaton K, Judkins AR, Biegel JA, Folpe AL
Abstract
Epithelioid malignant peripheral nerve sheath tumors arising in preexisting schwannomas are extremely rare. We report an unusual example occurring in a patient with multiple schwannomas (schwannomatosis), all but 1 of which showed "neuroblastoma-like" histology. By immunohistochemistry, both the epithelioid malignant peripheral nerve sheath tumor and the schwannomas showed a complete loss of the Smarcb1 protein. Subsequent genetic evaluation revealed the presence of a novel germline mutation in the SMARCB1/INI1 gene in the patient and in 3 of her children, 2 of whom were diagnosed with atypical teratoid/rhabdoid tumors of the brain.
PMID: 22082606 [PubMed - indexed for MEDLINE]
Pituicytoma with unusual histological features.
Pathol Int. 2011 Oct;61(10):598-602
Authors: Kwon MJ, Suh YL
Abstract
Pituicytoma is a rare low-grade glial neoplasm that originates in the neurohypophysis or infundibulum. Because of its rare occurrence, the morphology and differentiation of pituicytoma have not been fully clarified. Here, we report a case of pituicytoma with unusual histological features mimicking ependymoma, but exhibiting the diverse morphology and differentiation of pituicytoma. The 1.4 cm-sized suprasellar mass was incidentally found in the magnetic resonance image of a 42-year-old Korean woman who had had a traffic accident. Four years later, she presented with symptoms of hypopituitarism and the follow-up images revealed slight enlargement of the mass. After gross total resection, microscopic examination revealed oval to elongated cells with abundant eosinophilic cytoplasm arranged in a perivascular pseudorosette pattern and short interlacing fascicles. Pleomorphic tumor cells and Herring bodies were diffusely distributed within the tumor. Neither Rosenthal fibers nor eosinophilic granular bodies were identified. The tumor cells were immunohistochemically positive for glial fibrillary acidic protein, vimentin and S-100 protein, but negative for synaptophysin and adenohypophyseal hormones. The epithelial membrane antigen and CD99 were expressed with a paranuclear dot-like or membranous pattern in some tumor cells. Ultrastructural examination revealed that the tumor cells with intermediate filaments were closely apposed with intercellular junctions and frequent basal lamina production.
PMID: 21951670 [PubMed - indexed for MEDLINE]
A rare diagnosis of multiple hemorrhagic metastases in brain.
J Postgrad Med. 2011 Jul-Sep;57(3):214-7
Authors: Kumar A, Deopujari CE, Karmarkar VS
Abstract
A 30-year-old female presented with an episode of generalized tonic-clonic convulsions. The imaging revealed multiple hemorrhagic lesions in the brain. There was no significant past history except for a cardiac surgery two years ago, for a benign atrial myxoma. The diagnosis of probable metastases was thought of and a thorough workup was planned, to determine the primary. Surprisingly, no primary lesion was detected, and therefore, as a histological diagnosis was required, she underwent navigation-guided excisional biopsy of one of the lesions. The histopathology proved that it was a myxomatous lesion. Thus, a rare diagnosis of atrial myxoma presenting as hemorrhagic metastases of the brain was formed. Atrial myxoma is a benign tumor of the heart. It can embolize distally and can present with known embolic/ischemic manifestations. However, presentation as hemorrhagic mass lesions, involving multiple areas of the brain, after many years of complete surgical excision, is quite rare and is rarely considered as a differential diagnosis. Hence, such a possibility should be kept in mind and careful primary cardiac intervention, with preventive measures to minimize the chances of distal embolization should be undertaken. As only few such cases have been reported worldwide, no treatment protocol has been devised at present, and a close follow-up of these patients is warranted.
PMID: 21941060 [PubMed - indexed for MEDLINE]
Common molecular cytogenetic pathway in papillary tumors of the pineal region (PTPR).
Brain Pathol. 2011 Nov;21(6):672-7
Authors: Gutenberg A, Brandis A, Hong B, Gunawan B, Enders C, Schaefer IM, Burger R, Ostertag H, Gaab M, Krauss JK, Füzesi L
Abstract
Primary papillary tumors of the central nervous system and particularly the pineal region are rare. Papillary tumor of the pineal region (PTPR) is a recently described neoplasm that has been formally recognized in the 2007 World Health Organization Classification of Tumors of the Nervous System. Because of their rarity, further pheno- and genotypical observations as well as therapeutic experience are necessary to differentiate PTPR from other primary or secondary papillary tumors of this region. We herein present three cases of PTPR characterized by local recurrence in two of them. Primary and recurrent tumors were analyzed by immunohistochemistry and comparative genomic hybridization (CGH). From our results clonal chromosomal aberrations can be postulated which seem to be a feasible tool to differentiate PTPRs from other primary or secondary papillary tumors of this region.
PMID: 21470326 [PubMed - indexed for MEDLINE]
Ultra-small gadolinium oxide nanoparticles to image brain cancer cells in vivo with MRI.
Contrast Media Mol Imaging. 2011 Jul-Aug;6(4):209-18
Authors: Faucher L, Guay-Bégin AA, Lagueux J, Côté MF, Petitclerc E, Fortin MA
Abstract
The majority of contrast agents used in magnetic resonance imaging (MRI) is based on the rare-earth element gadolinium. Gadolinium-based nanoparticles could find promising applications in pre-clinical diagnostic procedures of certain types of cancer, such as glioblastoma multiforme. This is one of the most malignant, lethal and poorly accessible forms of cancer. Recent advances in colloidal nanocrystal synthesis have led to the development of ultra-small crystals of gadolinium oxide (US-Gd(2)O(3), 2-3 nm diameter). As of today, this is the smallest and the densest of all Gd-containing nanoparticles. Cancer cells labeled with a sufficient quantity of this compound appear bright in T(1)-weighted MRI images. Here we demonstrate that US-Gd(2)O(3) can be used to label GL-261 glioblastoma multiforme cells, followed by localization and visualization in vivo using MRI. Very high amounts of Gd are efficiently internalized and retained in cells, as confirmed with TEM and ICP-MS. Labeled cells were visualized in vivo at 1.5 T using the chicken embryo model. This is one more step toward the development of "positively contrasted" cell tracking procedures with MRI.
PMID: 21861281 [PubMed - indexed for MEDLINE]
"INFLAMMATORY MYOFIBROBLASTIC TUMOR OF THE LUNG IN CHILDREN: ANAPLASTIC LYMPHOMA KINASE (ALK) EXPRESSION AND CLINICO-PATHOLOGICAL CORRELATION"
Pediatr Dev Pathol. 2012 Jan 26;
Authors: Siminovich MH, Galluzzo Mutti ML, López JM, Lubieniecki FJ, G de Dávila MT
Abstract
Abstract The inflammatory myofibroblastic tumor (IMT) is a rare neoplastic lesion with a high incidence in children and young people and may arise in lungs, soft tissue, or viscera. It is recognized as a borderline tumor with the possibility to recur, undergo malignant transformation, and metastasize. IMT is composed of fascicles of bland myofibroblastic cells admixed with an inflammatory infiltrate consisting of lymphocytes, plasma cells, and eosinophils. We reviewed pulmonary IMT diagnosed at Garrahan Hospital in Buenos Aires, Argentina, during 12 years and examined the clinical, laboratory, and pathological features as well as molecular genetics. Eight pediatric cases were evaluated with a male to female ratio of 5: 3 and a median age of 6 years at diagnosis. The most common lung localization was the upper lobe. All cases underwent surgical excision and no local recurrences were found. Five out of eight patients, including two cases with metastatic/multifocal lesions in the central nervous system (CNS), are alive and disease free after a median follow-up of 30 months. Anaplastic lymphoma kinase (ALK) expression was negative in all pulmonary samples by immunohistochemistry (IHC), however, rearrangement for ALK locus by fluorescence in situ hybridization (FISH) was found in one lung and in two CNS samples. These findings may reflect higher sensitivity of the molecular biologic procedure compare to traditional IHC practice. In our pediatric experience, 25% of patients with lung IMT developed CNS lesions; therefore we consider that CNS screening in these patients should be considered, at diagnosis and later during follow-up.
PMID: 22280150 [PubMed - as supplied by publisher]
[Nasal dermoïd cyst with intracranial extension: which approach?].
Neurochirurgie. 2011 Jul;57(3):125-8
Authors: Bahloul K, Dhouib M, Chaari I, Abdelmoula M
Abstract
Dermoïd cyst is the most common midline congenital nasal tumor. Intracranial extension is rare but possible, must be suspected and confirmed by a cerebral magnetic resonance imagining (MRI). Only total surgical removal via a combined intracranial/extracranial approach appears to provide a complete resolution and effective protection against late recurrence. We report a case of a 2 years old patient who was operated for a nasal congenital cyst extending to the nasal septum. Anatomopathology showed a dermoïd cyst. Five years later, he presented local recurrence of the dermoïd cyst with intracranial extension through a bifid crista galli. We conclude that to avoid recurrence, the removal of the nasal cyst and sinus tract must be followed to its dural attachment. A transfacial approach can be associated with frontal craniotomy, which can provide adequate exposure for complete removal of the intracranial component of the cyst and sinus tract. A literature review was performed.
PMID: 21899863 [PubMed - indexed for MEDLINE]
New concepts in paraneoplastic neurological syndromes.
Rev Neurol (Paris). 2011 Oct;167(10):729-36
Authors: Honnorat J, Viaccoz A
Abstract
Paraneoplastic neurological syndromes (PNS) are rare diseases defined so far by the presence of a neurological disorder associated with cancer in the absence of invasion of the nervous system by tumor cells. Discovery of circulating autoantibodies specific for these patients has revolutionized the diagnosis and understanding of these syndromes and demonstrated a role of the immune system in the neurological syndromes. Until recent years, we thought that these autoantibodies were only markers of the disease and had no role in the pathophysiology. The recent description of autoantibodies directed against membrane receptors or channels and playing a direct pathological role has transformed the concept of PNS. Especially, it appears that many patients may have a neurological syndrome and autoantibodies without cancer. This results in a classification based on the nature of the autoantibodies associated with neurological syndrome. In case of autoantibodies targeting intracellular antigens, cancer is almost always associated, the neurological disorders are mainly related to neuronal death, patients are rarely sensitive to immunomodulatory treatments and cellular immunity appears to play a major role. In contrast, patients with autoantibodies targeting membrane antigens (receptors, channels or receptor associated proteins) have rarely cancer, neurological disorders are related to a reversible neuronal dysfunction, patients are mostly sensitive to immunomodulatory treatments and it seems that humoral immunity and autoantibodies play a major role.
PMID: 21890156 [PubMed - indexed for MEDLINE]
Central nervous system myelomatosis with optic neuropathy and intramedullary spinal cord compression responding to radiation therapy.
Jpn J Radiol. 2011 Aug;29(7):513-6
Authors: Riley JM, Russo JK, Shipp A, Alsharif M, Jenrette JM
Abstract
Central nervous system (CNS) involvement by multiple myeloma is a rare complication that occurs in less than 1% of cases. The purpose of this report is to highlight the unique presentation and treatment of a patient with CNS myelomatosis. A 58-year-old Caucasian woman with multiple myeloma developed subacute vision loss bilaterally and was found to have plasma cells in her cerebrospinal fluid. Using a helmet field to 25 Gy in 10 fractions, her vision was stabilized with radiotherapy. After developing right upper extremity numbness and weakness, magnetic resonance imaging revealed intramedullary spinal cord lesions from C5 to C7. She received radiotherapy to 25 Gy in 10 fractions from C4 to T1, with improvement in upper extremity strength after 15 Gy. Although CNS involvement by multiple myeloma is a rare complication, increasing awareness is necessary for clinicians to consider meningeal myelomatosis in patients with this neoplasm.
PMID: 21882094 [PubMed - indexed for MEDLINE]
Intrathecal administration of trastuzumab with cytarabine and methotrexate in breast cancer patients with leptomeningeal carcinomatosis.
Breast. 2011 Oct;20(5):478-80
Authors: Mego M, Sycova-Mila Z, Obertova J, Rajec J, Liskova S, Palacka P, Porsok S, Mardiak J
Abstract
HER2-positive status is associated with increased risk of central nervous system (CNS) metastases in breast cancer patients. Leptomeningeal carcinomatosis (LMC) represents a rare but disastrous manifestation of metastatic breast cancer (MBC) with limited treatment options and poor prognosis. Several case reports of intrathecal (i.t.) trastuzumab in the treatment of LCM were published so far. Usually, i.t. trastuzumab was administered in monotherapy or in combination with metothrexate. Herein, we report for the first time two patients with metastatic breast cancer and leptomeningeal carcinomatosis treated by intrathecal methotrexate (15 mg total dose) and cytarabine (24 mg total dose) with escalating dose of trastuzumab. We observed that up to 100 mg of trastuzumab can be safely administered intratecally with i.t. metothrexate and cytarabine. Both patients achieved good control of leptomeningeal disease for 13.5 and 6 months without significant toxicity. We suggest that i.t. trastuzumab with cytarabine and metothrexate is associated with promising benefit and warrant further investigation.
PMID: 21700455 [PubMed - indexed for MEDLINE]
A case of multiple brain metastases of uterine leiomyosarcoma with a literature review.
Surg Oncol. 2011 Dec;20(4):e127-31
Authors: Yamada S, Yamada SM, Nakaguchi H, Murakami M, Hoya K, Matsuno A
Abstract
Brain metastasis from uterine leiomyosarcoma is extremely rare, and prognostically alarming despite various treatments. The authors report a case of multiple brain metastases from uterine leiomyosarcoma who took a favorable course after tumor resection and γ-knife treatment. A 50-year-old woman with a history of hysterectomy for uterine leiomyosarcoma two years earlier, presented with a recent onset of headaches and vomiting. Multiple cerebral lesions were found by magnetic resonance imaging (MRI). The Karnofsky performance scale (KPS) was 40 with left hemiparesis and cerebellar ataxia. She was treated by resection of the left occipital and cerebellar tumors, followed by γ-knife irradiation of the residual tumors. KPS was 70 at her discharge from the hospital. MRI failed to show recurrence of the intracranial lesions 6 months after irradiation. She remained at home until she died from massive intra-abdominal bleeding. This is the first case with multiple brain metastases from uterine leiomyosarcoma, who survived with remarkable neurological improvement for 12 months. No comparable survival has been reported in the literature. It is evident that surgical resection and additional γ-knife irradiation contributed to early neurological recovery.
PMID: 21616660 [PubMed - indexed for MEDLINE]
Familial pituitary tumor syndromes.
Endocr Pract. 2011 Jul-Aug;17 Suppl 3:41-6
Authors: Vasilev V, Daly AF, Petrossians P, Zacharieva S, Beckers A
Abstract
OBJECTIVE: To summarize current knowledge on the clinical and genetic characteristics of familial pituitary tumor syndromes.
METHODS: This review is based on a comprehensive search through the English-language literature with use of the following terms: "familial," "pituitary," "adenomas," and "tumors."
RESULTS: Familial pituitary tumors are rare and constitute approximately 5% of all pituitary adenomas. Currently, there are 4 recognized inherited syndromes that involve pituitary tumorigenesis-multiple endocrine neoplasia type 1 (MEN 1), multiple endocrine neoplasia type 4 (MEN 4), Carney complex (CNC), and familial isolated pituitary adenomas (FIPA). MEN 1 and CNC have been known for several decades, and their clinical and molecular characteristics have been comprehensively studied. Many familial cases of pituitary adenomas can be attributed to mutations in MEN1 and PRKAR1A genes. The recently defined MEN 4 is extremely rare. Familial pituitary tumors that are not associated with MEN 1 and CNC have been united under a new term introduced in the 1990s-FIPA. About 15% to 25% of patients with FIPA harbor mutations in the AIP gene.
CONCLUSION: Although rare, familial pituitary tumors present an opportunity to study inherited molecular and genetic mechanisms of pituitary tumorigenesis. A comprehensive understanding of their characteristics may provide a basis for early diagnosis and better management of affected patients.
PMID: 21613050 [PubMed - indexed for MEDLINE]
Brain and optic chiasmal herniations into sella after cabergoline therapy of giant prolactinoma.
Pituitary. 2011 Dec;14(4):384-7
Authors: Dhanwal DK, Sharma AK
Abstract
Optic chiasmal herniation following dopamine agonist therapy is a rare complication in patients with giant prolactinomas. But there are a few case reports of brain and chiasmal herniation following medical therapy in such cases. We report a young man who developed secondary visual loss and seizures after 6 months of medical treatment with cabergoline for giant prolactinoma. Magnetic resonance imaging of hypothalamic pituitary region revealed optic chiasmal and frontal lobe herniation into sella. There was marginal improvement in his vision after cabergoline dose reduction. The present case report highlights frontal lobe herniation in conjunction with optic chiasmal herniation as a very rare complication of medical therapy of giant prolactinoma. Different treatment options of this condition are being discussed.
PMID: 19381817 [PubMed - indexed for MEDLINE]
Recurrent spindle cell oncocytoma of the pituitary, a case report and review of literature.
Pituitary. 2011 Dec;14(4):367-70
Authors: Demssie YN, Joseph J, Dawson T, Roberts G, de Carpentier J, Howell S
Abstract
Spindle cell oncocytoma (SCO) is a rare non-functioning tumour of the pituitary which has just been formally recognized as a distinct entity by the 2007 WHO classification of brain tumours. We report a case of SCO who presented with symptoms of visual blurring, weight loss, intermittent vomiting and excessive tiredness of several months duration. Investigations revealed a bitemporal visual field defect, a panhypopituitary hormonal profile and a large pituitary tumour with suprasellar extension. He underwent a successful trans-sphenoidal resection of the pituitary tumour but it subsequently recurred twice at 9 months interval which required further two debulking procedures. A diagnosis of SCO was made based on its unique histologic and staining properties. To date there are only ten reported cases of SCO in total with only two of these cases being recurrent. Our case displayed the most aggressive clinical course despite having a low Ki-67 index contrary to the previously reported cases of recurrent SCO.
PMID: 19241173 [PubMed - indexed for MEDLINE]
Secondary resistance to cabergoline therapy in a macroprolactinoma: a case report and literature review.
Pituitary. 2011 Dec;14(4):362-6
Authors: Behan LA, Draman MS, Moran C, King T, Crowley RK, O'Sullivan EP, Smith D, Thompson CJ, Agha A
Abstract
Primary resistance to dopamine agonists occurs in 10-15% of prolactinomas but secondary resistance following initial biochemical and anti-proliferative response is very rare and has only been hitherto described in four previous cases, two with bromocriptine and two with cabergoline. We describe a case of a 57-year-old woman who presented with a large macroprolactinoma with suprasellar extension. She was initially treated with bromocriptine therapy with a resolution of symptoms, marked reduction in prolactin concentration and complete tumour shrinkage; a response which was subsequently maintained on cabergoline. After 8 years of dopamine agonist therapy, her prolactin concentration began to rise and there was symptomatic recurrence of her tumour despite escalating doses of cabergoline up to 6 mg weekly. Non-compliance was outruled by observed inpatient drug administration. The patient underwent surgical debulking followed by radiotherapy with good response. This case adds to the previous two cases of secondary resistance to cabergoline therapy in prolactinomas a marked initial response. While the mechanism of secondary resistance remains unknown and not possible to predict, close observation of prolactinoma patients on treatment is necessary.
PMID: 19191028 [PubMed - indexed for MEDLINE]
Sellar and suprasellar mixed germ cell tumor mimicking a pituitary adenoma.
Pituitary. 2011 Dec;14(4):345-50
Authors: Wildemberg LE, Vieira Neto L, Taboada GF, Moraes AB, Marcondes J, Conceição FL, Chimelli L, Gadelha MR
Abstract
Germ cell tumors (GCT) are a heterogeneous group of lesions whose origin is not well established. Several cases of primary intrasellar germinomas have been reported, however non-germinomatous GCT have rarely been described. We report the case of a young adult male patient with a mixed GCT that presented with a sellar tumor with suprasellar extension. The patient seeked medical attention because of seizures and magnetic resonance imaging evidenced a tumor of the sellar region. Hyperprolactinemia was also present and dopamine agonist therapy was started. As there was a rapid tumor growth and the patient had concomitant central diabetes insipidus and elevated testosterone levels, a GCT was suspected and confirmed by elevated serum concentration of β-human chorionic gonadotrophin. Patient underwent surgical resection of the tumor and histopathological examination confirmed the diagnosis of a mixed GCT. Chemotherapy was initiated, followed by conventional radiotherapy. In conclusion, although pituitary adenomas respond for the vast majority of sellar tumors, concomitant symptoms such as central diabetes insipidus and rapid tumor growth should raise the suspicion of a diverse diagnosis. The present report intend not only to show a rare case of sellar and suprasellar mixed GCT but also to remind clinicians that if laboratory findings do not fit into patient's diagnosis (such as high testosterone levels in our patient), then the diagnosis should be reviewed.
PMID: 19116786 [PubMed - indexed for MEDLINE]
Unusual clinical presentations of giant prolactinomas.
Pituitary. 2011 Dec;14(4):340-4
Authors: Grozinsky-Glasberg S, Shimon I
Abstract
Giant prolactinomas are rare pituitary tumors which have scarcely been reported in the literature. We describe three men with unusual presenting features of prolactin-secreting giant pituitary adenomas: prolonged and increasingly disturbing intolerance to light and noise; strange behavior and mood disturbances; and rhinorrhea followed by a finding of cerebrospinal fluid leakage. Treatment with dopamine agonist alleviated all symptoms, with concomitant suppression of plasma prolactin levels and a significant reduction in tumor mass. These cases emphasize the importance of considering unusual symptoms in the differential diagnosis of giant prolactinomas and the effectiveness of medical treatment.
PMID: 19104942 [PubMed - indexed for MEDLINE]
Sudden death from diffuse leptomeningeal oligodendrogliomatosis.
J Neurosurg Spine. 2011 Dec;15(6):625-9
Authors: Reynolds RM, Boswell E, Hulette CM, Cummings TJ, Haglund MM, Boswell E, Hulette CM, Cumm Ings TJ, Haglund MM
Abstract
In this paper the authors describe the rare disorder of diffuse leptomeningeal oligodendrogliomatosis in a patient with an oligodendroglioma of the cauda equina who died suddenly. Reviewing this uncommon pathological entity is important so that it can be recognized and treated appropriately. This young, otherwise healthy woman with initial symptoms of low-back pain had a mass lesion of the cauda equina. During a workup, profound refractory intracranial hypertension suddenly developed despite aggressive surgical and medical intervention. Autopsy revealed a spinal cord oligodendroglioma with diffuse leptomeningeal oligodendrogliomatosis of the brain and spinal cord. Given the unforeseen outcome in this patient, this entity, although rare, should be considered in patients with similar presentations and addressed early to prevent similar outcomes. A review of the details of this case as well as the literature is presented below.
PMID: 21888480 [PubMed - indexed for MEDLINE]
Papillary tumor of the pineal region: two case studies and a review of the literature.
Ann Clin Lab Sci. 2011;41(2):174-81
Authors: Rickard KA, Parker JR, Vitaz TW, Plaga AR, Wagner S, Parker JC
Abstract
Papillary tumor of the pineal region (PTPR) is a newly recognized distinct entity in the 2007 World Health Organization nomenclature. This tumor is characterized by epithelial-appearing areas with papillary features and more densely cellular areas that often display ependymal-like differentiation. Ultrastructurally, this rare neuroepithelial tumor possesses neuroendocrine, secretory, and ependymal organelles that likely originate from the subcommissural organ (SCO) near the aqueduct of Sylvius. To date, approximately fifty-seven described cases worldwide have been recognized, with ages ranging from 5 years to 66 years (mean age=32 years). Clinical presentation most often includes headache and obstructive hydrocephalus. The tumor, which is well circumscribed, may be cystic and radiographically is often considered to be consistent with the findings of a pineocytoma. Microscopic evaluation often demonstrates a lesion with papillary areas lined by epithelioid tumor cells with eosinophilic cytoplasm and more cellular areas with cells exhibiting clear or vacuolated cytoplasm. Perivascular and true rosettes may be identified. Distinctive immunohistochemical features including reactivity for keratins (AE1/AE3, CAM 5.2, CK18) and only focal GFAP staining help distinguish this neoplasm from an ependymoma. The relative paucity of data compiled for this tumor makes giving an accurate diagnosis and prognosis a daunting task. We discuss two additional cases of PTPR that presented to us within a three-month span in order to more fully elucidate the possible presentations of this rare entity. Furthermore, we examine now 59 reported cases of PTPR in order to review the current diagnostic and treatment modalities in addition to exploring emerging research encompassing this unusual neoplasm.
PMID: 21844577 [PubMed - indexed for MEDLINE]
[A case of medullomyoblastoma].
No Shinkei Geka. 2011 Nov;39(11):1073-7
Authors: Aramaki Y, Shimokawa S, Nakashima S, Nakamura Y
Abstract
Medullomyoblastoma is a rare histologic variant of medulloblastoma. We report a case of medullomyoblastoma occurring in the cerebellar vermis. A 12-year-old girl presented with a 3-month history of headache, nausea, vomiting and unsteadiness of gait. Magnetic resonance imaging (MRI) revealed a mass lesion in the cerebellar vermis. A suboccipital craniectomy was perfomed to remove a tumor. Immunohistochemical studies confirmed the presence of both a primitive neuroectodermal component and rhabdomyoblastic differentiation, consistent with the diagnosis of medullomyoblastoma.
PMID: 22036819 [PubMed - indexed for MEDLINE]
Intracranial involvement in a patient with Hodgkin's lymphoma.
Singapore Med J. 2011 Sep;52(9):e180-3
Authors: Comert M, Bassullu N, Kaya E, Kocak A
Abstract
Intracranial and intraspinal involvement is a rare complication of Hodgkin's lymphoma. Intracranial involvement is observed in 0.2 to 0.5 percent of patients with Hodgkin's lymphoma. No specific risk factors associated with intracranial involvement have been found. We report intracranial involvement of Hodgkin's lymphoma in a patient who had previously undergone thyroidectomy due to thyroid papillary carcinoma.
PMID: 21947160 [PubMed - indexed for MEDLINE]
Hydrocephalus and spinal cord tumors: a review.
Childs Nerv Syst. 2011 Oct;27(10):1741-9
Authors: Mirone G, Cinalli G, Spennato P, Ruggiero C, Aliberti F
Abstract
INTRODUCTION: Hydrocephalus secondary to intraspinal tumors is a well-known but rare condition since about 1% of patients with spinal cord tumors have various degrees of hydrocephalus at initial presentation. DISCUSSION: The mechanism of development of intracranial hypertension and hydrocephalus in patients with spinal cord tumor is not exactly known. The problematic aspects of this condition, with regard to clinical presentation and pathophysiology, are discussed and the relevant literature is reviewed. This uncommon association should always be kept in mind in the differential diagnosis of hydrocephalus of unknown etiology for three main reasons: the possibility of neurological deterioration if the patient is shunted prior tumor removal, the possibility to treat the hydrocephalus without shunting by simply removing the tumor, and the possible role of hydrocephalus as an early sign of intracranial metastasis in patients previously operated upon for removal of intramedullary gliomas. Due to the very slow evolution of the disease, a careful and close clinical and neuroradiological follow-up are essential for many years afterward. The presence of intracranial hypertension in a patient previously operated for a spinal tumor should be considered and investigated as an early sign of neoplastic intracranial seeding.
PMID: 21928038 [PubMed - indexed for MEDLINE]
Primary mediastinal atypical meningioma: Report of a case and literature review.
World J Surg Oncol. 2012 Jan 21;10(1):17
Authors: Mogi A, Hirato J, Kosaka T, Yamaki E, Kuwano H
Abstract
ABSTRACT: Meningiomas are common neoplasms arising from the central nervous system meninges. On the other hand, primary ectopic meningiomas are extremely rare and usually limited to the head and neck region or to the paravertebral soft tissues. Their occurrence in the mediastinum is even rarer. Until now, only 4 cases of primary mediastinal meningioma have been reported in the literature searched on Medline. Because of its rarity and intriguing pathogenesis, we report here a case of primary mediastinal meningioma that was treated by surgical resection. The clinical features, treatment, pathological findings, and prognosis are analyzed, and the literature based on ectopic meningioma is reviewed.
PMID: 22264362 [PubMed - as supplied by publisher]
Benign sacrococcygeal teratoma with spinal canal invasion and paraplegia.
J Pediatr Surg. 2011 Sep;46(9):e1-4
Authors: Kunisaki SM, Maher CO, Powelson I, Gemmete JJ, Hirschl RB, Mychaliska GB
Abstract
Sacrococcygeal teratomas can have a wide variety of clinical presentations depending on their size, vascularity, and degree of mass effect upon adjacent structures. Intradural invasion of a sacrococcygeal teratoma is a rare variant that has generally been associated with a favorable neurologic outcome. In this report, we present the case of a neonate with paraplegia secondary to a large Altman type III sacrococcygeal teratoma with extension into the spinal canal. The neoplasm was completely removed using a combined anterior and posterior approach after preoperative embolization of the lateral sacral arteries. Pathology showed a mature teratoma. The patient remains paraplegic without evidence of tumor recurrence at 1 year of age.
PMID: 21929968 [PubMed - indexed for MEDLINE]
Epstein-Barr virus-related lymphoproliferative disorder, cytomegalovirus reactivation, and varicella zoster virus encephalitis during treatment of medulloblastoma.
J Med Virol. 2011 Sep;83(9):1582-4
Authors: Ohta M, Taga T, Nomura A, Kato H, Takano T, Maruo Y, Takeuchi Y, Ishida M, Ohta S
Abstract
The case of a 14-year-old girl who developed Epstein-Barr virus-related lymphoproliferative disorder, cytomegalovirus reactivation, and Varicella zoster virus encephalitis during treatment for medulloblastoma is described. The patient was diagnosed with a cerebral medulloblastoma and treated with systemic chemotherapy, intrathecal chemotherapy, and radiotherapy. Six months later, she developed persistent low-grade fever, abdominal pain, and vomiting. Several mucosal or ulcerated lesions of the stomach and colon were found on fiberscopy. The infiltrating cells were positive for CD20 and EBER1, and the diagnosis of lymphoproliferative disorder was made. CMV antigen was found in the peripheral lymphocytes at that time. At the same time, it was noted that the patient's language was inappropriate for her age, and a facial and abdominal rash, as well as a right facial palsy, had developed. She was then diagnosed as having VZV encephalitis, because VZV was detected in the CSF. She was treated subsequently with acyclovir and oral steroid, and the VZV encephalitis resolved. The lymphoproliferative disorder improved gradually with rituximab, ganciclovir, and total nutritional support. At the time of the development of the lymphoproliferative disorder and VZV encephalitis, the patient had severe lymphopenia and this may have caused these rare phenomena in a non-transplant setting.
PMID: 21739449 [PubMed - indexed for MEDLINE]
Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.
J Pathol. 2012 Jan;226(1):7-16
Authors: Yip S, Butterfield YS, Morozova O, Chittaranjan S, Blough MD, An J, Birol I, Chesnelong C, Chiu R, Chuah E, Corbett R, Docking R, Firme M, Hirst M, Jackman S, Karsan A, Li H, Louis DN, Maslova A, Moore R, Moradian A, Mungall KL, Perizzolo M, Qian J, Roldan G, Smith EE, Tamura-Wells J, Thiessen N, Varhol R, Weiss S, Wu W, Young S, Zhao Y, Mungall AJ, Jones SJ, Morin GB, Chan JA, Cairncross JG, Marra MA
Abstract
Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of the identity and function of the genes affected by these alterations is limited. We performed exome sequencing on a discovery set of 16 oligodendrogliomas with 1p/19q co-deletion to identify new molecular features at base-pair resolution. As anticipated, there was a high rate of IDH mutations: all cases had mutations in either IDH1 (14/16) or IDH2 (2/16). In addition, we discovered somatic mutations and insertions/deletions in the CIC gene on chromosome 19q13.2 in 13/16 tumours. These discovery set mutations were validated by deep sequencing of 13 additional tumours, which revealed seven others with CIC mutations, thus bringing the overall mutation rate in oligodendrogliomas in this study to 20/29 (69%). In contrast, deep sequencing of astrocytomas and oligoastrocytomas without 1p/19q loss revealed that CIC alterations were otherwise rare (1/60; 2%). Of the 21 non-synonymous somatic mutations in 20 CIC-mutant oligodendrogliomas, nine were in exon 5 within an annotated DNA-interacting domain and three were in exon 20 within an annotated protein-interacting domain. The remaining nine were found in other exons and frequently included truncations. CIC mutations were highly associated with oligodendroglioma histology, 1p/19q co-deletion, and IDH1/2 mutation (p < 0.001). Although we observed no differences in the clinical outcomes of CIC mutant versus wild-type tumours, in a background of 1p/19q co-deletion, hemizygous CIC mutations are likely important. We hypothesize that the mutant CIC on the single retained 19q allele is linked to the pathogenesis of oligodendrogliomas with IDH mutation. Our detailed study of genetic aberrations in oligodendroglioma suggests a functional interaction between CIC mutation, IDH1/2 mutation, and 1p/19q co-deletion.
PMID: 22072542 [PubMed - indexed for MEDLINE]
Posterior fossa vermian cystic schwannoma mimicking as pilocytic astrocytoma: a case report and literature review.
Neurol India. 2011 Sep-Oct;59(5):756-60
Authors: Umredkar A, Gupta SK, Radotra B
Abstract
Intraparenchymal schwannomas are rare and most of the reported cases are in supratentorial region with frontal lobe being most common. Infratentorial location is very rare. We report a posterior fossa midline large cystic schwannoma with mural nodule mimicking as pilocytic astrocytoma. The pathogenesis and neuroradiological findings of intraparenchymal schwannomas are discussed with review of the related literature.
PMID: 22019665 [PubMed - indexed for MEDLINE]
Craniopharyngioma.
Otolaryngol Clin North Am. 2011 Aug;44(4):937-52, viii
Authors: Stamm AC, Vellutini E, Balsalobre L
Abstract
Craniopharyngiomas are rare epithelial tumors arising along the path of the craniopharyngeal duct; therefore, they occur in the sellar or suprasellar regions. These tumors commonly lead to neurologic, endocrinological, or visual symptoms. Radical surgery is the treatment of choice in craniopharyngiomas. The transnasal/transsphenoidal endoscopic approach offers the possibility of removing the tumor without retracting brain and optic pathways, with good results. The rate of cerebrospinal fluid fistula has improved due to the use of vascularized mucosal flaps for cranial base reconstruction.
PMID: 21819881 [PubMed - indexed for MEDLINE]
Metastatic neuroblastoma to the mandible: an unusual presentation.
Am J Otolaryngol. 2011 Sep-Oct;32(5):438-40
Authors: Parker CA, Liess BD, Gov-Ari E, Sramek BW
Abstract
Neuroblastoma is an uncommon cause of a mandibular mass. We describe an 8-month-old child who presented with loosening of his dentition, poor oral intake, and a large mandibular mass. Thorough radiographic study and subsequent biopsy of the oral lesion revealed the diagnoses of metastatic neuroblastoma. Ultimately, he was successfully treated with surgery and chemotherapy. The unusual presentation and pathophysiology of this malignancy will be reviewed. Neuroblastoma presenting as a mandible mass associated with natal teeth is rare, but it should be considered in the differential diagnosis of pediatric mandibular lesions.
PMID: 20851501 [PubMed - indexed for MEDLINE]
Prognostic Factors in Central Neurocytomas: A Multicenter Study of 71 Cases.
Am J Surg Pathol. 2012 Feb;36(2):220-227
Authors: Vasiljevic A, François P, Loundou A, Fèvre-Montange M, Jouvet A, Roche PH, Figarella-Branger D
Abstract
Central neurocytoma (CN) is a rare intraventricular tumor presenting a benign histologic appearance and favorable prognosis after surgery. In contrast, "atypical" CN is defined by a high MIB1 proliferation index and/or histologic features of malignancy, which are associated with a poorer outcome. This variant of CN remains somewhat controversial. To better characterize CN and its "atypical" variant, a retrospective multicenter study was conducted on 71 patients presenting with CN. A statistical analysis of clinical, radiologic, and histologic data was conducted to validate prognostic factors. The immunohistochemical phenotype of CNs, analyzed by tissue microarrays, and the MIB1 index were evaluated for 45 cases. Tissue microarrays validated the expression of neuronal markers synaptophysin and NeuN, but not that of glial markers glial fibrillary acidic protein and oligodendrocyte transcription factor 2. In the univariate analysis, a tumor volume ≥30 cm (P=0.025), incomplete surgery (P=0.033), and a mitotic count ≥3 per 10 high-power fields (P=0.009) were predictors of a higher risk of recurrence, unlike the other usual histologic features of malignancy and the high MIB1 index. Partial surgery was the only criterion associated with a poorer outcome in the multivariate model. Our results, based on a large multicenter series, show the striking homogeneity of CNs and do not support the use of histologic criteria as reliable markers to define an "atypical" group of CNs. Our study suggests that the extent of surgery is the main factor to be considered in the prognostic assessment of patients with CN.
PMID: 22251941 [PubMed - as supplied by publisher]
Targeting Aurora Kinase A enhances radiation sensitivity of atypical teratoid rhabdoid tumor cells.
J Neurooncol. 2012 Jan 15;
Authors: Venkataraman S, Alimova I, Tello T, Harris PS, Knipstein JA, Donson AM, Foreman NK, Liu AK, Vibhakar R
Abstract
Atypical teratoid/rhabdoid tumors (ATRT) are rare, highly malignant, embryonal CNS tumors with a poor prognosis. Therapy relies on highly toxic chemotherapy and radiotherapy. To improve outcomes and decrease morbidity, more targeted therapy is required. Gene expression analysis revealed elevated expression of multiple kinases in ATRT tissues. Aurora Kinase A was one of the candidate kinases. The objective of this study was to evaluate the impact of Aurora Kinase A inhibition in ATRT cell lines. Our analysis revealed that inhibition of Aurora Kinase A induces cell death in ATRT cells and the small molecule inhibitor MLN 8237 sensitizes these cells to radiation. Furthermore, inhibition of Aurora Kinase A resulted in decreased activity of pro-proliferative signaling pathways. These data indicate that inhibition of Aurora Kinase A is a promising small molecule target for ATRT therapy.
PMID: 22246202 [PubMed - as supplied by publisher]
Pitfalls in extrapolating adult data to rare paediatric diseases.
Lancet Oncol. 2011 Dec;12(13):1180-1
Authors: Traunecker H
PMID: 22094005 [PubMed - indexed for MEDLINE]
Prevention of CNS relapse in diffuse large B-cell lymphoma.
Lancet Oncol. 2011 Dec;12(13):1258-66
Authors: Kridel R, Dietrich PY
Abstract
CNS relapse occurs in about 5% of patients during the course of diffuse large B-cell lymphoma and entails a dismal prognosis. This consideration has led to the adoption of CNS prophylaxis, although known risk factors do not allow for an accurate prediction of CNS recurrences because they have insufficient sensitivity and specificity. Here, we review the reports of CNS events in major studies of diffuse large B-cell lymphoma before and after the introduction of rituximab, and probe the evidence that underlies prophylactic strategies such as intrathecal or high-dose intravenous chemotherapy. Now that rituximab is available, CNS prophylaxis relies on little-if any-evidence and should not be routinely administered. Nonetheless, several patient subgroups probably have a high risk of systemic and CNS relapses, and how to manage their treatment is a challenge. These subgroups include patients with testicular lymphoma or those who have more than one extranodal site involved plus at least one additional risk factor. For such patients, we recommend against prophylactic intrathecal chemotherapy because of the rare occurrence of isolated leptomeningeal relapses, the absence of evidence-based efficacy, and the potential harmful side-effects that are associated with this procedure. Because many CNS events are a result of primary resistance to treatment or accompany systemic relapses, high-dose intravenous methotrexate has been suggested as an alternative approach that needs to be validated in prospective controlled trials.
PMID: 21933751 [PubMed - indexed for MEDLINE]
Medulloblastoma and gliomatosis cerebri: rare brain tumors in multiple sclerosis patients.
Neurol Sci. 2011 Oct;32(5):893-7
Authors: da Silva AA, dos Santos Cavaco SM, Taipa RJ, Pinto PR, Pires MJ
Abstract
The simultaneous appearance of both multiple sclerosis (MS) and central nervous system (CNS) tumors is relatively uncommon. Whether the co-existence of two diseases is due to chance alone or the result of a causal relationship is still a matter of debate. There is also controversy about the effect of long-term exposure of MS patients to immunomodulatory drugs on the incidence of cancer. This paper reports two cases of rare CNS tumors (i.e., medulloblastoma and gliomatosis cerebri) in adult MS patients. Our cases emphasize that when uncommon neurological features appear in patients with MS, brain magnetic resonance imaging (MRI) ought to be done and brain biopsy should be considered to exclude a concomitant CNS disorder. These procedures are essential for the differential diagnosis and early treatment.
PMID: 21234776 [PubMed - indexed for MEDLINE]
Imaging diagnosis of brain metastasis.
Prog Neurol Surg. 2012;25:55-73
Authors: Barajas RF, Cha S
Abstract
Hematogeneous spread of primary neoplasm can result in central nervous system (CNS) disease burden in various anatomically distinct regions; calvarial, pachymeningeal, leptomeningeal, and intraparenchymal. The choice of imaging modality is dependent on the individual clinical situation, but, largely depends on the patients overall clinical status and the information needed to make treatment decisions. Contrast-enhanced magnetic resonance (MR) imaging is the preferred imaging modality of choice; however, computed tomography (CT) is often utilized as the first-pass screening modality for CNS disease. Despite the superior soft tissue resolution, multiplanar capability, and noninvasive nature of MR imaging, T(1)- and T(2)-weighted sequences are limited to delineating morphologic anatomical deraignment of tissues by tumor. Several physiology based MR imaging sequences have been developed which compliment anatomic MR imaging. Proton magnetic resonance spectroscopic and dynamic susceptibility contrast-enhanced perfusion-weighted imaging are two physiologic sequences which add additional diagnostic information allowing for improved tumor characterization. Common pitfalls in evaluating for metastatic disease burden include the misidentification of non-neoplastic hematomas, remote microvascular ischemia, and acute onset of ischemic stroke. In the pediatric population, CNS metastases are rare; however, the onset of acute neurological symptoms in a child with known primary tumor should prompt imaging of the neuroaxis.
PMID: 22236668 [PubMed - in process]
Rare phenomenon of extracranial metastasis of glioblastoma.
J Clin Oncol. 2011 Dec 1;29(34):4594-5
Authors: Fonkem E, Lun M, Wong ET
PMID: 22042941 [PubMed - indexed for MEDLINE]
Rare case of infratentorial non-Langerhans cell histiocytosis with lethal outcome presenting multiple diagnostic difficulties.
J Clin Oncol. 2011 Dec 1;29(34):e830-2
Authors: Doukas A, Petridis AK, Barth H, Hugo HH, Mehdorn HM
PMID: 22025140 [PubMed - indexed for MEDLINE]
Molecular profile of oligodendrogliomas in young patients.
Neuro Oncol. 2011 Oct;13(10):1099-106
Authors: Suri V, Jha P, Agarwal S, Pathak P, Sharma MC, Sharma V, Shukla S, Somasundaram K, Mahapatra AK, Kale SS, Sarkar C
Abstract
Several studies on molecular profiling of oligodendrogliomas (OGs) in adults have shown a distinctive genetic pattern characterized by combined deletions of chromosome arms 1p and 19q, O6-methylguanine-methyltransferase (MGMT) methylation, and isocitrate dehydrogenase 1 (IDH1) mutation, which have potential diagnostic, prognostic, and even therapeutic relevance. OGs in pediatric and young adult patients are rare and have been poorly characterized on a molecular and biological basis, and it remains uncertain whether markers with prognostic significance in adults also have predictive value in these patients. Fourteen cases of OGs in young patients (age, ≤ 25 years) who received a diagnosis over 7 years were selected (7 pediatric patients age ≤ 18 years and 7 young adults aged 19-25 years). The cases were evaluated for 1p/19q status, MGMT promoter methylation, p53 mutation, and IDH1 mutation. None of the pediatric cases showed 1p/19q deletion. In young adults, combined 1p/19q loss was observed in 57% and isolated 1p loss in 14% of cases. The majority of cases in both subgroups (71% in each) harbored MGMT gene promoter methylation. TP53 and IDH1 mutations were not seen in any of the cases in both the groups. To our knowledge, this is the first study to show that molecular profile of OGs in pediatric and young adult patients is distinct. Further large-scale studies are required to identify additional clinically relevant genetic alterations in this group of patients.
PMID: 21937591 [PubMed - indexed for MEDLINE]
Poststeroid panniculitis in an adult.
Am J Dermatopathol. 2011 Oct;33(7):e77-80
Authors: de-Andrés-del-Rosario A, Verea-Hernando MM, Yebra-Pimentel MT, Rosende-Maceiras L, Piñeyro-Molina F, Capdevila EF
Abstract
Poststeroid panniculitis is a rare disorder usually reported in children after a sudden decrease or withdrawal of corticosteroid therapy. We report a case in an adult, a finding very rarely reported in English literature. The case report is about a 34-year-old man with multiple erythematous, firm and tender subcutaneous nodules on both thighs and legs after the withdrawal of long-term doses of dexamethasone prescribed before and after surgery for a frontoinsular anaplastic oligodendroglioma. Histopathologic study revealed mainly lobular and also septal panniculitis with fat necrosis and characteristic needle-shaped clefts in radial arrangement within fat cells and multinucleated giant cells. The lesions resolved in about 5 months, after weight loss and application of topical corticosteroids for 1 month, leaving only residual hyperpigmentation.
PMID: 21915029 [PubMed - indexed for MEDLINE]
Unusual CT hyperattenuating dermoid cyst of cerebellum: a new case report and literature review.
Cerebellum. 2011 Sep;10(3):536-9
Authors: Li ZJ, Miao YX, Sun P, Li YJ, Dou YH, Xu J, Chen X, Jiang YX
Abstract
Almost all intracranial dermoid cysts typically display low-density lesions on plain computerized tomography (CT) scans due to abundant lipids content. CT hyperattenuating dermoid cyst (CHADC) is very uncommon with only nine case reports in the literature update, which occurs exclusively in the posterior fossa. Moreover, CHADC with mural nodule is exceptionally rare, and only one such case was documented previously. Here, we report a new case of cerebellar CHADC with mural nodule in a 14-year-old male patient who presented with a 4-week history of dull headache and 5-day history of gait disturbance. With an average attenuation value of 89.9 Hounsfield units on CT scans, the lesion mainly displayed T1 hyperintensity, T2 hypointensity, and FLAIR hypointensity on magnetic resonance imaging. The patient underwent lesion gross total resection and symptomatic improvement, and final pathology was consistent with dermoid cyst. For further clarifying the mechanism of unusual CT hyperdensity, we sampled the cystic content and quantified its protein, calcium, and cholesterol, and our result suggested the high protein, high calcium, and low lipids in contents was the main mechanism of increased CT attenuation for CHADC.
PMID: 21448632 [PubMed - indexed for MEDLINE]
[Leptomeningeal spread of an intramedullary cervical pilocytic astrocytoma: case report and literature review].
Neurocirugia (Astur). 2011 Oct;22(5):445-51; discussion 452
Authors: Jusué-Torres I, Alcázar-Vaquerizo L, Gómez-Angulo JC, Navarro-Torres R, López-Serrano R, García-Miralles N
Abstract
BACKGROUND. The rarest location of pilocytic astrocytoma is intramedullary. Gliomas represent up to 24 - 30% of intramedullary tumors in adulthood and are second only after ependymomas. Leptomeningeal dissemination through cerebrospinal fluid is unusual and occurs predominantly in medulloblastomas, ependymoblastomas, central neuroblastomas, ependymomas, germ cell tumors and high-grade gliomas. The majority of spinal cord gliomas reporting metastasis were anaplastic astrocytomas or glioblastomas multiforme and relatively few were low-grade gliomas. The incidence of leptomeningeal spread of low-grade tumors is rare. A rare cranial extension of brain leptomeningeal dissemination in an intramedullary pilocytic astrocytoma during adulthood is reported. CASE REPORT. A 51 year-old-man with a recurrent intramedullary mass at C5-C7 level operated 4 times with all pathological anatomy reports describing the lesion as Pilocytic Astrocytoma developed, after 15 years from the diagnosis, visual hallucinations and his level of consciousness worsened to Glasgow coma score 13/15. The MRI showed highly enhanced cranial and spinal leptomeninges and paquimeninges with a micro nodular-granulomatous aspect associated with intense affectation of basal cisterns, subarachnoid spaces and convexity of both cerebral hemispheres suggestive of leptomeningeal spread of the spinal mass. The patient expired after three days. CONCLUSION. Leptomeningeal spread is a rare phenomenon and when it happens usually doesn't change the primary tumor's behavior. In our case the aggressiveness could be explained by a potential malignization of the primary tumor that it was not documented because of the partial resections from the lasts surgeries or instead the tumor was actually a monomorphous pilomyxoid tumor.
PMID: 22031164 [PubMed - indexed for MEDLINE]
Inguinal lymph nodal metastasis of myxopapillary ependymoma confirmed by fine-needle aspiration cytology, biopsy, and immunohistochemistry: case report.
Diagn Cytopathol. 2011 Sep;39(9):689-93
Authors: Vega-Orozco R, Rembao-Bojórquez D, Salmerón-Mercado M, García-Marquez A, Tena-Suck ML
Abstract
Ependymoma (EP) rarely metastasizes outside the central nervous system. Inguinal nodule metastasis of EP more than 10 years after surgical resection and radiotherapy is extremely rare. We report a man aged 38 years who underwent surgery for lumbosacral myxopapillary EP at the age of 22 years and was treated with several cycles of radiotherapy. The patient was reoperated for residual tumor and received two complete cycles of radiotherapy for 11 years. Biopsies were always diagnosed as myxopapillary EP. Five years after the last surgical excision, the patient developed abdominal pain and inguinal lymphadenopathy. Biopsy was performed by fine-needle aspiration and was proven malignant epithelial neoplasm with a myxoid background, was diagnosed as metastasis of EP. Biopsy showed an anaplastic EP grade III. EP is often recurrent at the primary site but can seed on the entire cerebrospinal axis. We describe the clinical features of this rare lesion and particularly emphasize the need for long-term follow-up, for more than 10 years after the initial treatment, in patients with EP and malignant transformation after radiotherapy.
PMID: 21837657 [PubMed - indexed for MEDLINE]
Multiple chromosomal monosomies are characteristic of giant cell ependymoma.
Hum Pathol. 2011 Dec;42(12):2042-6
Authors: Dahlback HS, Brandal P, Krossnes BK, Fric R, Meling TR, Meza-Zepeda LA, Danielsen HE, Heim S
Abstract
Giant cell ependymoma, a rare ependymoma subtype, was recently recognized as a separate diagnostic entity with variations both in malignant potential and course of disease. We analyzed the first supratentorial giant cell ependymoma using G-band karyotyping, DNA ploidy analysis, and array comparative genomic hybridization. The tumor was hypodiploid, and the karyotype showed multiple monosomies. This novel cytogenetic pattern seems specific for giant cell ependymoma as the only previous cytogenetic analysis of a giant cell ependymoma found similar monosomies. We were also able to analyze cytogenetically the subsequent recurrent tumor, phenotypically an anaplastic ependymoma, allowing a first insight into the genetic events involved in disease progression.
PMID: 21683982 [PubMed - indexed for MEDLINE]
Clinical course of adult patients with ependymoma: results of the Adult Ependymoma Outcomes Project.
Cancer. 2011 Nov 15;117(22):5133-41
Authors: Armstrong TS, Vera-Bolanos E, Gilbert MR
Abstract
BACKGROUND: Ependymomas are a rare tumor in adults, and there are limited reports of the clinical course, treatment, and current health status of patients.
METHODS: Patients with ependymoma completed an online survey regarding their diagnosis, treatment course, and current health status. Descriptive statistics were used to report the characteristics and degree of symptom severity. Correlations between demographic and clinical characteristics were explored with univariate analysis.
RESULTS: One hundred eighteen adults participated, and there were more women (n = 68) than men (n = 50). The median age was 48 years (range, 22-77 years). Fifty-nine participants (48%) reported that they had not been able to work since their diagnosis, and 31% reported receiving disability benefits. Patients who had been treated for spine tumors had symptoms longer than those who had been treated for brain lesions (chi-square statistic, 7.294; P = .026), and the majority had 3 symptoms before diagnosis. Most patients reported undergoing complete resection (brain lesions, 62%; spine tumors, 58%), and patients with spine tumors were less likely to have received additional treatment (chi-square statistic, 9.687; P = .008). The majority had not had a recurrence and reported consulting a neurosurgeon for surveillance. Despite having stable disease and not receiving active treatment, most patients described moderate to severe symptoms, including fatigue (44%), numbness/tingling (39%), pain (36%), and disturbed sleep (34%) overall. Brain lesions were associated with altered vision (25%), difficulty concentrating (25%), weakness (19%), irritability (19%), difficulty speaking (19%), and understanding (17%); and spine lesions were associated with extremity weakness (55%), sexual dysfunction (48%), radiating pain (37%), and change in bowel pattern (35%).
CONCLUSIONS: Treatment for adult patients with ependymoma is not standardized. Despite the low recurrence rate, patients reported significant symptoms and disability.
PMID: 21538344 [PubMed - indexed for MEDLINE]
Occurrence and clinical features of brain metastasis after chemoradiotherapy for esophageal carcinoma.
J Radiat Res (Tokyo). 2011 Jul 23;52(4):509-15
Authors: Kanemoto A, Hashimoto T, Harada H, Asakura H, Ogawa H, Furutani K, Boku N, Nakasu Y, Nishimura T
Abstract
Brain metastasis from esophageal carcinoma has been considered rare and survival following esophageal carcinoma with distant metastasis is poor. The purpose of this report was to clarify cumulative incidence and risk factors for brain metastasis after chemoradiotherapy for esophageal carcinoma, and to consider recommended treatments for brain metastasis from esophageal carcinoma. We reviewed 391 patients treated with chemoradiotherapy. Median age was 65 years. Clinical stages were I, II, III, and IV in 32, 47, 150, and 162 patients, respectively. Brain imaging was performed usually when patients revealed neurological symptoms. The 3-year cumulative incidence of brain metastasis after chemoradiotherapy was 6.6%. There were 4 patients with single metastasis and 8 with multiple metastases. Initial clinical stages were II, III, and IV in 1, 2, and 9 patients, respectively. Histology included squamous cell carcinoma in 10 patients and others in 2 patients. Univariate analysis demonstrated M factor, distant lymph node relapse, and recurrent lung and liver metastasis as significant risk factors of brain metastasis (P < 0.05). Median survival time after diagnosis of brain metastasis was 2.1 months. Brain metastasis was not directly related to cause of mortality. The causes were extracranial tumor deterioration in 8 patients and infection in 4 patients. Brain metastasis may increase in the future with improving survival from esophageal carcinoma. However, considering the poor survival after diagnosis of brain metastasis, short-term palliative therapy for brain metastasis appears preferable to vigorous long-term therapy.
PMID: 21490410 [PubMed - indexed for MEDLINE]
Toxicity of gamma knife radiosurgery in the treatment of intracranial tumors in patients with collagen vascular diseases or multiple sclerosis.
Int J Radiat Oncol Biol Phys. 2011 Nov 15;81(4):e519-24
Authors: Lowell D, Tatter SB, Bourland JD, deGuzman AF, Ekstrand KE, Ellis TL, Lovato JF, McMullen KP, Munley MT, Shaw EG, Urbanic JJ, Chan MD
Abstract
PURPOSE: To assess toxicity in patients with either a collagen vascular disease (CVD) or multiple sclerosis (MS) treated with intracranial radiosurgery.
METHODS AND MATERIALS: Between January 2004 and April 2009, 6 patients with MS and 14 patients with a CVD were treated with Gamma Knife radiosurgery (GKRS) for intracranial tumors. Treated lesions included 15 total brain metastases in 7 patients, 11 benign brain tumors, 1 low grade glioma, and 1 cavernous malformation. Toxicities were graded by the Radiation Therapy Oncology Group Acute/Late Radiation Morbidity Scoring Criteria. "Rare toxicities" were characterized as those reported in the scientific literature at an incidence of <5%.
RESULTS: Median follow-up time was 16 months. Median dose to the tumor margin was 13.0 Gy (range, 12-21 Gy). Median size of tumor was 5.0 cm(3) (range, 0.14-7.8 cm(3)). Of the 14 patients with CVD, none experienced a Grade 3 or 4 toxicity or a toxicity characterized as rare. Of the 6 patients with MS, 3 experienced rare toxicities, and two of these were Grade 3 toxicities. Rare complications included a patient experiencing both communicating hydrocephalus and facial nerve palsy, as well as 2 additional patients with motor cranial nerve palsy. High-grade toxicities included the patient with an acoustic neuroma requiring ventriculoperitoneal shunt placement for obstructive hydrocephalus, and 1 patient with a facial nerve schwannoma who experienced permanent facial nerve palsy. Interval between radiosurgery and high-grade toxicities ranged from 1 week to 4 months.
CONCLUSIONS: Our series suggests that patients with MS who receive GKRS may be at increased risk of rare and high-grade treatment-related toxicity. Given the time course of toxicity, treatment-related edema or demyelination represent potential mechanisms.
PMID: 21601376 [PubMed - indexed for MEDLINE]
Extraneural metastasis of a nongerminomatous germ cell tumor of the central nervous system in a pediatric patient with a ventriculoperitoneal shunt: a case report and review of the literature.
J Pediatr Hematol Oncol. 2012 Jan;34(1):e12-6
Authors: Belongia M, Jogal S
Abstract
We describe the case of a 7-year-old white boy who presented with a mixed malignant germ cell tumor with predominant embryonal carcinoma component. The patient underwent right ventriculoperitoneal (VP) shunt placement for hydrocephalus at the time of diagnosis. He received multiagent chemotherapy followed by second-look surgery. Despite an initial response to chemotherapy, the patient had metastatic progression of disease within the craniospinal axis. He received craniospinal radiation and high-dose chemotherapy. Although, he had resolution of central nervous system (CNS) disease, follow-up off treatment revealed extra-abdominal metastases. This is a rare case to discuss abdominal metastasis of a CNS germ cell tumor in a patient with a VP shunt. The influence of VP shunt placement on treatment and management decisions of patients with CNS tumors will be discussed.
PMID: 22215101 [PubMed - in process]
Acrogigantism and facial asymmetry: McCune-Albright syndrome.
J Pediatr Endocrinol Metab. 2011;24(9-10):835-7
Authors: Subbiah S, Palikhe G, Bhadada SK, Mukherjee KK, Bhansali A
Abstract
McCune-Albright syndrome (MAS) is characterized by a triad of poly/monoostotic fibrous dysplasia, café-au-lait macules and hyperfunctioning endocrinopathies. Association of MAS with GH excess is rare, and in most of the instances somatotropinoma has not been documented. Treatment of patients of MAS with acromegaly is difficult because of thickened calvarium and dysplastic skull bone. We report a 17-year-old girl, who presented with cranio-facial fibrous dysplasia, café-au-lait macules and also had acromegaly due to pituitary macroadenoma, and treated with gamma knife radiosurgery.
PMID: 22145488 [PubMed - indexed for MEDLINE]
Primary malignant meningeal melanomatosis: a clinical, radiological and pathologic case study.
Acta Neurol Belg. 2011 Sep;111(3):228-31
Authors: Arias M, Alberte-Woodward M, Arias S, Dapena D, Prieto A, Suárez-Peñaranda JM
Abstract
A 40 year-old woman with subacute headache and visual impairment was admitted. Neurological examination revealed meningismus, diminished visual acuity, bilateral sixth cranial nerve palsy, and papillary edema. Dermatologic examination was normal. The brain CT scan showed hydrocephalus and hyperdense edging around fissures and sulci. The CSF study showed an increased protein level, with persistently negative microbiologic and cytological studies. Prior to Gd-DPTA injection, the brain T1-WI MRI revealed leptomeningeal hyperintensity. A dark subpial substance became evident at cerebral biopsy. The histopatological diagnosis was diffuse leptomeningeal melanomatosis. This case report highlights the diagnostic value of the brain MRI findings in primary leptomeningeal melanomatosis, a rare pathologic condition diagnosed in most published cases only after necropsy. Meningeal T1-WI hyperintensity prior to contrast injection is not caused by sarcoidosis or meningeal carcinomatosis, lymphomatosis or gliomatosis.
PMID: 22141290 [PubMed - indexed for MEDLINE]
Hypothalamic obesity syndrome: Rare presentation of CNS+ B-cell lymphoblastic lymphoma.
Pediatr Blood Cancer. 2011 Dec 27;
Authors: Quigg TC, Haddad NG, Buchsbaum JC, Shih CS
Abstract
Hypothalamic obesity syndrome can affect brain tumor patients following surgical intervention and irradiation. This syndrome is rare at diagnosis in childhood cancer, but has been reported with relapse of acute lymphoblastic leukemia. Here we present a case of hypothalamic obesity syndrome as the primary presentation of a toddler found to have CNS+ B-cell lymphoblastic lymphoma. Cytogenetic studies on diagnostic cerebrospinal fluid revealed MLL gene rearrangement (11q23). Hyperphagia and obesity dramatically improved following induction and consolidation chemotherapy. We describe a novel presentation of hypothalamic obesity syndrome in CNS B-cell lymphoblastic lymphoma, responsive to chemotherapy. Pediatr Blood Cancer © 2011 Wiley Periodicals, Inc.
PMID: 22213612 [PubMed - as supplied by publisher]
Atypical teratoid/rhabdoid tumor arising in a ganglioglioma: genetic characterization.
Am J Surg Pathol. 2011 Dec;35(12):1894-901
Authors: Kleinschmidt-DeMasters BK, Birks DK, Aisner DL, Hankinson TC, Rosenblum MK
Abstract
Atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon, aggressive, embryonal pediatric brain tumor that almost always develops de novo and does not arise within, or evolve from, other brain tumor types. Although rhabdoid morphology can be seen in other tumor types, these are phenotypic mimics and, with only rare exceptions, do not manifest the INI-1 deletion at the 22q11.2 locus or the INI-1 nuclear protein loss that characterizes AT/RT. A few reports of AT/RT evolving from a low-grade ganglioglioma (GG) or pleomorphic xanthoastrocytoma have appeared. We present the case of a 6-year-old boy with a large right parietal mass whose tumor at initial presentation manifested 2 distinct components: GG with neoplastic neurons, low MIB-1 rate, and retention of INI-1 nuclear immunostaining (immunohistochemical) and, second, AT/RT with rhabdoid cells, polyphenotypic immunohistochemical expression, high MIB-1 rate, and loss of INI-1 nuclear expression. The 2 areas were separately assessed by fluorescence in situ hybridization for monosomy 22; monosomy 22 was identified in the AT/RT component but not in the GG areas. BRAF V600E mutation, a genetic abnormality seen in a significant percentage of pleomorphic xanthoastrocytomas and GGs, was assessed by polymerase chain reaction and identified in the tumor. Dual abnormalities of INI-1 loss and V600E BRAF mutation were identified in a cell culture line established from cerebrospinal fluid metastatic tumor cells. This cell line exhibited extremely rapid growth rate and rhabdoid morphology. Results suggest a postclonal modification in a subset of GG cells, with acquisition of INI-1 loss, confirming by biological methods what was previously suspected in rare reports of AT/RT evolving from other tumor types.
PMID: 22082607 [PubMed - indexed for MEDLINE]
Long survival of primary diffuse leptomeningeal gliomatosis following radiotherapy and temozolomide: case report and literature review.
Eur J Med Res. 2011 Sep 12;16(9):415-9
Authors: Hansen N, Wittig A, Hense J, Kastrup O, Gizewski ER, Van de Nes JA
Abstract
OBJECTIVE: Primary diffuse leptomeningeal gliomatosis (PDLG) is a rare neoplasm with a short survival time of a few months. There is currently no standardized therapeutic approach for PDLG. -
MATERIAL AND METHODS: We report on a 53-year-old male patient who presented with epileptic seizures, gait disturbance, paraparesis and sensory deficits in the dermatomes T8-10. -
RESULTS: Magnetic resonance imaging (MRI) revealing numerous spinal and cranial gadolinium-enhancing nodules in the meninges and histopathology led us to diagnose primary diffuse leptomeningeal gliomatosis with WHO grade III astrocytic cells. Consecutively, the patient underwent craniospinal radiotherapy (30Gy) and 11 sequential cycles of temozolomide. This regimen led to partial tumor regression. Thirteen months later, spinal MRI revealed tumor progression. Second-line chemotherapy with 5 cycles of irinotecan and bevacizumab did not prevent further clinical deterioration. The patient died twenty-two months after diagnosis, being the longest survival time described thus far with respect to PDLG consisting of astrocytic tumor cells. -
CONCLUSIONS: Radiochemotherapy including temozolomide, as established standard therapy for brain malignant astrocytomas, might be valid as a basic therapeutic strategy for this PDLG subtype.
PMID: 22024443 [PubMed - indexed for MEDLINE]
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Isolated angiitis of the central nervous system with tumor-like lesion, mimicking brain malignant glioma: a case report and review of the literature.
World J Surg Oncol. 2011;9:97
Authors: You G, Yan W, Zhang W, Li S, Li G, Jiang T
Abstract
BACKGROUND: Isolated angiitis of the central nervous system (IACNS) is a rare but severe vascular disease, which could present like an isolated inflammatory lesion on magnetic resonance imaging (MRI). To date, only a few such cases with tumor-like IACNS have been reported.
CASE PRESENTATION: A 35-year-old woman presented with headache and left-sided weakness. MRI scans initially mislead us to a diagnosis of glioblastoma (GBM). Surgery was performed. The mass was sub-totally resected. Pathological examination confirmed a cerebral vasculitis. Radiological features, such as disproportionate mass effect, striped hemorrhage and abnormal enhancement of adjacent vessels, could be helpful to distinguish a tumor-like IACNS from a GBM. Single therapy with high doses of steroid did not improve the patient's condition. Combined therapy with prednisolone and cyclophosphamide showed great benefit to the patient. No relapse occurred during the period of 18 months follow-up.
CONCLUSIONS: Although a tumor-like IACNS has no established imaging features, a diagnosis of tumor-like IACNS should be suspected when MRI shows inappropriate presentations of a tumor. Greater awareness of this potential manifestation of IACNS may facilitate more prompt diagnosis and treatment.
PMID: 21867556 [PubMed - indexed for MEDLINE]
Cushing's disease in a patient with steroid 21-hydroxylase deficiency.
Endocr J. 2011;58(8):699-706
Authors: Haase M, Schott M, Kaminsky E, Lüdecke DK, Saeger W, Fritzen R, Schinner S, Scherbaum WA, Willenberg HS
Abstract
Cushing's disease rarely appears as a consequence of hereditary disease. However, familial diseases with diminished glucocorticoid feedback are associated with secondary hypercorticotropinism and have been shown to give rise to pituitary adenomas. We here describe the rare case of a 30-year old female patient with congenital adrenal hyperplasia who also showed clinical signs and a typical history of hypercortisolism that was specified as Cushing's disease. After removal of a pituitary microadenoma, serum-cortisol levels fell below normal and the symptoms improved. However, after four years the menstrual cycle was irregular again and ACTH levels were in the upper range of normal. A corticotropin challenge showed a minor cortisol response but a marked increase in 17-hydroxyprogesterone serum concentrations. Genetic analysis revealed a homozygous mutation in exon 7 of the CYP21A2 gene (CTG>TTG, p.V281L). We conclude that a marked ACTH drive was able to override insufficient 21-hydroxylation and even to cause hypercortisolism. Although we describe a rare case, the impairment of the glucocorticoid feedback system in the context of congenital adrenal hyperplasia and other diseases may contribute to the development of secondary hypercorticotropinism as well as corticotropin producing adenomas.
PMID: 21646730 [PubMed - indexed for MEDLINE]
Syndromes Predisposing to Pediatric Central Nervous System Tumors: Lessons Learned and New Promises.
Curr Neurol Neurosci Rep. 2011 Dec 29;
Authors: Villani A, Malkin D, Tabori U
Abstract
Central nervous system (CNS) neoplasms are a leading cause of morbidity and mortality among children with cancer. In contrast to adults, a genetic basis for brain tumors is relatively common in children. A child harboring a germline mutation in a cancer-related gene will be predisposed to develop CNS tumors. These cancer predisposition syndromes are rare but pose overwhelming clinical and psychosocial challenges to families and the treating team. Recent significant advances in our understanding of the biological processes that govern these genetic conditions combined with international efforts to define and treat clinical aspects of these tumors are transforming the lives of these individuals. In this article, we summarize recent progress made for each of the major CNS tumor syndromes. We discuss the biological and clinical relevance of such advances, and suggest a comprehensive approach to a child affected by a predisposition to brain tumors.
PMID: 22205236 [PubMed - as supplied by publisher]
Primary malignant melanoma of the vagina with repeated local recurrences and brain metastasis.
J Chin Med Assoc. 2011 Aug;74(8):376-9
Authors: Lin LT, Liu CB, Chen SN, Chiang AJ, Liou WS, Yu KJ
Abstract
Malignant melanoma of the vagina, a very rare malignancy, has a notoriously aggressive behavior associated with a high risk of local recurrence and distant metastasis. At present, there are various treatment options for this disease but no standard guideline. We describe a case of a 54-year-old woman with a locally advanced melanoma of the vagina, who underwent radical surgery, biochemotherapy with interferon-α-2b, chemotherapy, radiotherapy, and repeat excision of local recurrent lesions and brain metastasis. In conclusion, malignant melanoma of the vagina has a high risk for local recurrence. Repeated local excision followed by biochemotherapy is a tolerable treatment.
PMID: 21872820 [PubMed - indexed for MEDLINE]
Primary intradural extraosseous Ewing sarcoma of the spine: case report and literature review.
Neurosurgery. 2011 Oct;69(4):E995-9
Authors: Karikari IO, Mehta AI, Nimjee S, Hodges TR, Tibaleka J, Montgomery C, Simpson L, Cummings TJ, Bagley CA
Abstract
BACKGROUND AND IMPORTANCE: To report a rare case of spinal intradural extraosseous Ewing sarcoma in an adult and review current literature. Although Ewing sarcoma belongs to the family, the treatment modalities are different, and thus the correct diagnosis is very important despite its rare occurrence. CLINICAL PRESENTATION: A 56-year-old woman presented with nocturnal bilateral buttock and leg pain. Magnetic resonance imaging (MRI) showed an enhancing intradural extramedullary extraosseous tumor at L1. INTERVENTION: A T12-L2 laminectomy was performed to resect the tumor. Immunohistochemical analysis confirmed the diagnosis of Ewing sarcoma. A thorough diagnostic workup did not reveal any bony origin of the tumor. Primary intradural central nervous system Ewing sarcoma is infrequently encountered and shares imaging and histopathological features with central primitive neuroectodermal tumors. Establishment of the right diagnosis is crucial because it mandates a distinct workup and treatment modality different from that for central primitive neuroectodermal tumor. Although osseous Ewing sarcoma predominantly occurs in children and young adults, extraosseous central nervous system Ewing sarcoma is not uncommon in adults and should therefore be considered in the differential diagnosis of extraosseous small blue cell tumors in adult patients.
PMID: 21572359 [PubMed - indexed for MEDLINE]
Malignant meningiomas with epithelial (adenocarcinoma-like) metaplasia: a study of 3 cases.
Neurosurgery. 2011 Oct;69(4):884-92
Authors: Patil S, Scheithauer BW, Strom RG, Mafra M, Chicoine MR, Perry A
Abstract
BACKGROUND: Meningiomas exhibit a wide range of histomorphologic features, including variable mesenchymal and epithelioid phenotypes. Meningiomas also represent the most common host tumors for systemic metastases, particularly carcinomas. Recently, however, 3 unique dural-based neoplasms were encountered, wherein malignant-appearing gland-like structures were intermixed with meningothelial elements, yet genetic data suggested epithelial metaplasia rather than metastatic carcinoma.
OBJECTIVE: To describe and characterize a rare meningioma pattern with potential diagnostic pitfalls.
METHODS: In addition to routine clinical, radiologic, and histopathological analyses, cases were studied with immunohistochemistry and fluorescence in situ hybridization (FISH) to elucidate the origins of 2 seemingly disparate tumoral components.
RESULTS: Immunohistochemistry confirmed an epithelial ontogeny of gland-like structures, with extensive CK7 positivity suggesting possible lung or breast primaries. However, identical losses of chromosomes 1p, 14q, and 22q in meningothelial and epithelial components were identified by FISH, an observation consistent with a monoclonal derivation and supporting the diagnosis of malignant meningioma with adenocarcinoma-like metaplasia. Although this phenomenon was reminiscent of gland-like metaplasia in secretory meningioma, it differed in that the gland-forming cells were cytologically malignant, formed extracellular rather than intracellular lumina, and were unassociated with pseudopsammoma bodies. Nevertheless, intermingled secretory and adenocarcinoma-like features were seen in one case, suggesting some relationship between these 2 forms of epithelial metaplasia.
CONCLUSION: Recognition of adenocarcinoma-like metaplasia in meningiomas can prevent a misdiagnosis of metastatic carcinoma, with all its associated implications for patient management.
PMID: 21558975 [PubMed - indexed for MEDLINE]
Malignant Peripheral Nerve Sheath Tumor With Primitive Neuroepithelial Differentiation in an Adult: A Case Report.
Int J Surg Pathol. 2011 Dec 25;
Authors: Anvikar AR, Kulkarni MP, Ramteerthakar NA, Gosavi AV, Sulhyan KR
Abstract
Primitive neuroepithelial differentiation in malignant peripheral nerve sheath tumors (MPNSTs) has been reported in children but is extremely rare in adults. The authors report the case of a 70-year-old woman who presented with swelling of the right leg of 1-month duration. Fine-needle aspiration cytology was suggestive of a benign peripheral nerve sheath tumor. Histopathological examination of the excised mass revealed a MPNST with spindle-cell areas and a few round-cell areas with rosettes. The spindle cells showed positive immunoreactivity for S-100 protein and vimentin and negativity for desmin, confirming their nerve sheath origin. The round cells were immunoreactive for synaptophysin and chromogranin, indicating primitive neuroepithelial differentiation. These cells did not stain for CD99, which is consistently expressed by the cells of primitive neuroectodermal tumors (PNETs) of bone and soft tissue but not by central nervous system (CNS) PNETs or medulloblastomas. In this case, the PNET-like focus resembled a CNS-PNET.
PMID: 22200660 [PubMed - as supplied by publisher]
Diffusion tensor images and magnetic resonance spectroscopy in primary central nervous system T-cell lymphoma: a case report.
Acta Neurol Taiwan. 2011 Mar;20(1):59-64
Authors: Liao MF, Toh CH, Kuo HC, Chu CC, Jung SM, Huang CC
Abstract
PURPOSE: Primary central nervous system lymphoma (PCNSL) is rare and usually B cell in origin. T-cell lymphoma constitutes only 1.8% to 4.6% of the PCNSL, and may present as solitary or multiple homogeneous enhanced lesions. There have been few reports showing unusual leukoencephalopathy in PCNSL, which may be confused with other white matter diseases including multiple sclerosis and acute disseminated encephalomyelitis.
CASE REPORT: We reported a patient with T-cell PCNSL who presented a progressive dull response and extrapyramidal symptoms. Brain magnetic resonance imaging showed multiple focal leukoencephalopathy. Diffusion weighted imaging demonstrated hyper-intensity lesions and apparent diffusion coefficient images showed hypo-intensity lesions. Diffuse tensor images showed decreased fractional anisotropy. Pathology examination finally confirmed T-cell lymphoma.
CONCLUSION: Although recent development of neuro-imaging studies, the diagnosis of PCNSL still await further pathological confirmation in some occasions.
PMID: 21249594 [PubMed - indexed for MEDLINE]
Lateral posterior fossa encephalocele with associated migrational disorder of the cerebellum in an infant.
J Neurosurg Pediatr. 2011 Nov;8(5):479-83
Authors: Hamilton KM, Wiens AL, Fulkerson DH
Abstract
Encephaloceles are acquired or congenital defects in which intracranial contents protrude through a defect in the calvaria. The embryogenesis of these lesions is incompletely understood. The vast majority of lesions occur at or near the anatomical midline. The authors present an extremely rare case of a laterally oriented, pathologically proven encephalocele associated with a posterior fossa cyst and cerebellar migrational defect in an infant. The authors review past and current theories of encephalocele formation as it relates to this case.
PMID: 22044373 [PubMed - indexed for MEDLINE]
Treatment of a supratentorial primitive neuroectodermal tumor using magnetic resonance-guided laser-induced thermal therapy.
J Neurosurg Pediatr. 2011 Nov;8(5):468-75
Authors: Jethwa PR, Lee JH, Assina R, Keller IA, Danish SF
Abstract
Supratentorial primitive neuroectodermal tumors (PNETs) are rare tumors that carry a poorer prognosis than those arising from the infratentorial compartment (such as medulloblastoma). The overall prognosis for these patients depends on several factors including the extent of resection, age at diagnosis, CSF dissemination, and site in the supratentorial space. The authors present the first case of a patient with a newly diagnosed supratentorial PNET in which cytoreduction was achieved with MR-guided laser-induced thermal therapy. A 10-year-old girl presented with left-sided facial weakness and a large right thalamic mass extending into the right midbrain. The diagnosis of supratentorial PNET was made after stereotactic biopsy. Therapeutic options for this lesion were limited because of the risks of postoperative neurological deficits with resection. The patient underwent MR-guided laser-induced thermal ablation of her tumor. Under real-time MR thermometry, thermal energy was delivered to the tumor at a core temperature of 90°C for a total of 960 seconds. The patient underwent follow-up MR imaging at regular intervals to evaluate the tumor response to the thermal ablation procedure. Initial postoperative scans showed an increase in the size of the lesion as well as the amount of the associated edema. Both the size of the lesion and the edema stabilized by 1 week and then decreased below preablation levels at the 3-month postsurgical follow-up. There was a slight increase in the size of the lesion and associated edema at the 6-month follow-up scan, presumably due to concomitant radiation she received as part of her postoperative care. The patient tolerated the procedure well and has had resolution of her symptoms since surgery. Further study is needed to assess the role of laser-induced thermal therapy for the treatment of intracranial tumors. As such, it is a promising tool in the neurosurgical armamentarium. Postoperative imaging has shown no evidence of definitive recurrence at the 6-month follow-up period, but longer-term follow-up is required to assess for late recurrence.
PMID: 22044371 [PubMed - indexed for MEDLINE]
Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.
J Clin Endocrinol Metab. 2011 Nov;96(11):E1905-14
Authors: Farrell WE, Azevedo MF, Batista DL, Smith A, Bourdeau I, Horvath A, Boguszewski M, Quezado M, Stratakis CA
Abstract
CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is caused by mutations in the menin (MEN1) gene. The mechanism(s) by which MEN1 mutations lead to pituitary tumor formation remain(s) unknown.
OBJECTIVE: The aim of the study was to identify the pediatric MEN1-associated pituitary tumor transcriptome.
PATIENTS AND METHODS: A patient harboring a MEN1 mutation (c.525C>G; p.H139D) who presented with an early-onset mammosomatotroph pituitary adenoma was studied. Microarray analysis was performed in the tumor sample and compared with the profile observed in normal pituitaries and in a sporadic mammosomatotropinoma. Validation of the microarray results was performed using quantitative real-time PCR and immunohistochemical analysis for selected genes.
RESULTS: In the MEN1-associated pituitary adenoma, 59 and 24 genes were found to be significantly up- and down-regulated, respectively. The up-regulated genes included those involved in cell growth and maintenance, apoptosis, growth arrest, and tumorigenesis. Moreover, we observed decreased expression in genes neuroendocrine in nature and related to growth or apoptosis. Only 21 of the 59 genes differentially expressed in the MEN1-associated adenoma showed a similar expression profile to that seen in the sporadic mammosomatotropinoma; for some genes an opposite expression profile was observed.
CONCLUSIONS: We identified changes in the transcriptome that occur in pituitary GH- and PRL-producing cells after the loss of menin expression; some of the gene changes are necessary for tumor evolution, and others may be tertiary. Nevertheless, the rare overlap between the expression profiles of the MEN1 tumor vs. that of its sporadic counterpart suggests that these tumors evolve along different molecular pathways.
PMID: 21917868 [PubMed - indexed for MEDLINE]
37-year-old woman with multiple intracranial masses.
Brain Pathol. 2011 Sep;21(5):607-10
Authors: Jiang WX, Zheng SQ, Wang PJ
Abstract
Extramedullary hematopoiesis (EMH), defined as the presence of hematopoiesis outside bone marrow and peripheral blood, occurs asa compensatory phenomenon in several hematologic disorders and bone marrow dysfunction. EMH predominantly affects reticuloendothelial system including the spleen, liver and lymph nodes. Here,we report a rare case of multiple intracranial meningeal EMH. A37-year-old woman was anemic with gradually worsening vision for 8 months. Multiple extra-axial masses were found on imaging and the patient underwent the biopsy for the left frontotemporal lesion.Final diagnosis was multiple intracranial meningeal EMH. Treatment of fractionated external beam radiotherapy resulted in marked symptomatic improvement. This case indicates that although the diagnosis of meningeal EMH is difficult, there is a need to consider EMHin the differential diagnosis of anemic patients with tumor-like mass lesions in extramedullary sites.
PMID: 21854477 [PubMed - indexed for MEDLINE]
Deep brain stimulation for treatment of hemichorea-hemiballism after craniopharyngioma resection: long-term follow-up.
J Neurosurg. 2011 Nov;115(5):966-70
Authors: Capelle HH, Kinfe TM, Krauss JK
Abstract
Hemichorea-hemiballism is a rare movement disorder that has various causes. In treatment-resistant cases, both thalamic and pallidal functional procedures have been shown to yield beneficial results. Until now it has not been clarified whether the thalamus or the pallidum would yield a superior outcome. After resection of a craniopharyngioma in this patient at the age of 49 years, hemichorea-hemiballism developed, with a latency of several weeks. Because the patient was greatly impaired by the movement disorder, she underwent implantation of deep brain stimulation (DBS) electrodes in the thalamic ventralis intermedius nucleus and the posteroventral lateral globus pallidus internus. Although both pallidal and thalamic stimulation could suppress the movement disorder, the voltage needed was clearly less with thalamic than with pallidal stimulation. At the last available follow-up 25 months postoperatively, complete subsidence of hemichorea-hemiballism was achieved with long-term thalamic stimulation. Long-term DBS therapy is an efficient treatment modality for refractory hemichorea-hemiballism in the long run (> 2 years). A bifocal (thalamic and pallidal) target paradigm allowed selection of the optimal stimulation site. Thalamic DBS was more favorable with regard to energy consumption.
PMID: 21819190 [PubMed - indexed for MEDLINE]
Genomic aberrations in pediatric gliomas and embryonal tumors.
Genes Chromosomes Cancer. 2011 Oct;50(10):788-99
Authors: Dahlback HS, Brandal P, Gorunova L, Widing E, Meling TR, Krossnes BK, Heim S
Abstract
The pathogenesis of pediatric central nervous system tumors is poorly understood. To increase knowledge about the genetic mechanisms underlying these tumors, we performed genome-wide screening of 17 pediatric gliomas and embryonal tumors combining G-band karyotyping and array comparative genomic hybridization (aCGH). G-banding revealed abnormal karyotypes in 56% of tumor samples (9 of 16; one failed in culture), whereas aCGH found copy number aberrations in all 13 tumors examined. Pilocytic astrocytomas (n = 3) showed normal karyotypes or nonrecurrent translocations by karyotyping but the well-established recurrent gain of 7q34 and 19p13.3 by aCGH. Our series included one anaplastic oligoastrocytoma, a tumor type not previously characterized genomically in children, and one anaplastic neuroepithelial tumor (probably an oligoastrocytoma); both showed loss of chromosome 14 by G-banding and structural aberrations of 6q and loss of 14q, 17p, and 22q by aCGH. Three of five supratentorial primitive neuroectodermal tumors showed aberrant karyotypes: two were near-diploid with mainly structural changes and one was near-triploid with several trisomies. aCGH confirmed these findings and revealed additional recurrent gains of 1q21-44 and losses of 3p21, 3q26, and 8p23. We describe cytogenetically for the first time a cribriform neuroepithelial tumor, a recently identified variant of atypical teratoid/rhabdoid tumor with a favorable prognosis, which showed loss of 1p33, 4q13.2, 10p12.31, 10q11.22, and 22q by aCGH. This study indicates the existence of distinct cytogenetic patterns in pediatric gliomas and embryonal tumors; however, further studies of these rare tumors using a multimodal approach are required before their true genomic aberration pattern can be finally established.
PMID: 21717527 [PubMed - indexed for MEDLINE]
Association of nevus of jadassohn, sebaceoma and trichoblastoma in a scalp lesion.
Acta Dermatovenerol Croat. 2011 Dec;19(4):271-7
Authors: Brafa A, Vaccaro M, Campana M, Nisi G, Mourmouras V, Miracco C, D'Aniello C
Abstract
INTRODUCTION Nevus sebaceus of Jadassohn is a hamartomatous tumor usually involving the scalp or the face, composed of benign epithelial components including sebaceous glands, epithelium, and eccrine glands, often with apocrine change. In newborn infants, it often appears as slightly verrucous, yellowish hairless plaques. In children, these tumors are well-circumscribed, flat, waxy yellow-tan or yellow-orange, often hairless lesions and are much less prominent than at birth. During puberty, the lesions usually enlarge and become elevated, verrucous, or nodular, and may appear brown (1). In late childhood and adulthood, a myriad of other cutaneous appendageal neoplasms have also been reported to arise within the nevus. Sebaceoma is a benign neoplasm of basaloid cells with varying numbers of mature sebocytes. Histologically, sebaceoma shows irregularly shaped cell masses in which more than 50 percent of cells are undifferentiated, basaloid cells together with significant aggregates of sebaceous cells and transitional cells. Cysts and duct-like structures contain holocrine secretion and debris. Recently, trichoblastomas have been defined by Headington (2) as follows: "Trichoblastomas are rare tumors of hair germ that are purely epithelial and therefore lack a potentially inductive stroma. It tends to present as discrete, circumscribed subcutaneous nodules in non-sun-exposed areas". Although the prototypic trichoblastoma is subcutaneous, this definition does not exclude the possibility of such a discrete, circumscribed tumor of hair germ epithelium occurring in the dermis. The authors report a case of association of sebaceous organoid nevus of Jadassohn with an ulcerated sebaceoma next to a trichoblastoma. CASE REPORT A 65-year-old male Caucasian was admitted to our Unit with an exophytic lesion of the skin of the scalp on an area of alopecia (Fig. 1). The lesion had appeared about five years before, increasing in size over years. The patient was in good general health and had no accompanying symptoms. On examination, the skin around the lesion showed no inflammatory signs; the lesion presented three components: an exophytic part with a bleeding ulcer around it and some small skin lesions on its surface. At admission, the lesion was 3.0x4.0 cm in diameter and on palpation did not seem to be involved with the underlying tissue. Physical examination revealed no lymphadenopathy. In the operating room, complete excision of the lesion was performed (Fig. 2) and submitted for histologic examination. The defect was repaired with two rotation flaps pivoting in the same direction (O-to-Z flap) (3), the lesion was excised and the flaps incised, undermined, and pivoted toward the defect (Fig. 3). The postoperative course was free of complications. The patient left the hospital two days after surgery. His recent follow-up one year after treatment was free of local recurrences, with good functional and cosmetic results (Fig. 4). The histopathologic findings revealed an area of nevus sebaceus of Jadassohn with epidermal papillomatosis on the left, next to a trichoblastoma, showing stromal retraction from normal dermal collagen, and next to an ulcerated sebaceoma. Trichoblastoma formed hair bulbs inside a specialized stroma close to sebaceoma. The sebaceoma appeared clear, with mature sebaceous cells within the sheets of a basaloid tumor forming keratotic material. In the background of the sebaceous organoid nevus of Jadassohn, a well-circumscribed, ulcerated sebaceoma could be distinguished next to the trichoblastoma. The former was characterized by sharp circumscription, smooth borders, in part ulcerated, and sheets of sebocytes, some of which were fully mature and marked by vacuolated cytoplasm, intermingled with immature ones. Zones of cornification were seen. The latter, at low magnification, was described as a large, circumscribed basaloid tumor with no epidermal connection situated in the mid-lower dermis. The lesion showed nests of basaloid cells with no subepithelial cleft formation, with variable specialized stroma, pilar differentiation and hair bulb formation (Fig. 5). CONCLUSION According to literature data, trichoblastoma is the most common neoplasm developing in nevus sebaceus of Jadassohn (4). Although rare, some patients with extensive cutaneous lesions may have linear nevus sebaceus syndrome, which is associated with abnormalities of the central nervous system, ophthalmologic and skeletal changes, and malignant conditions (5). Literature reports suggest that prophylactic surgical removal is not required but is needed when there is a high degree of suspicion of benign or malignant neoplasms (6,7). In our patient, the size of the lesion required reconstruction with a transposition flap, as direct closure was not possible without modification of the skin of the scalp. Recent studies demonstrated that all hyperplastic and neoplastic sebaceous skin lesions expressed hTERT on immunohistochemical studies (8). The involved area has been primed to produce pilosebaceous units (including apocrine glands) but, for some obscure reason, the area is not capable of producing normal pilosebaceous units, as confirmed by histopathologic findings. While there is pilar differentiation, there is an area of alopecia.
PMID: 22185931 [PubMed - in process]
Sellar paraganglioma: a unique route to a rare destination case report and literature review.
Clin Neurol Neurosurg. 2011 Oct;113(8):675-7
Authors: Albert A, Ramirez JA, Codere F, Petrecca K
Abstract
OBJECTIVE: Paragangliomas of the sella are rare; 14 cases have been reported in the literature. We describe here the unique case of a sellar paraganglioma that extended into the orbit through the superior orbital fissure. We have also reviewed all reported cases of sellar paragangliomas to better define best management strategies.
CLINICAL PRESENTATION: A 63-year-old male presented with left eye proptosis and conjunctival vessel dilatation.
INTERVENTION: Resection of the intraorbital component of the tumor was accomplished using a transcranial-transorbital approach.
CONCLUSION: This is the first report of a sellar/parasellar paraganglioma extending into the orbit through the superior orbital fissure. While an appropriate treatment paradigm has not been established, a review of all previously reported cases suggests that radiotherapy is an important consideration.
PMID: 21550714 [PubMed - indexed for MEDLINE]
Extramedullary spinal ependymoma: a diagnostic challenge and review of the literature.
Clin Neurol Neurosurg. 2011 Oct;113(8):661-4
Authors: Kinsman MJ, Callahan JD, Hattab EM, Cohen-Gadol AA
Abstract
Of the 15 cases of intradural extramedullary ependymomas in the literature, only 3 patients were male. The authors report the fourth case to be diagnosed in a male patient and discuss the pathogenesis, presentation, and treatment of this rare form of ependymoma. These cases most commonly show a similar clinical preoperative course to that of a benign meningioma. Although most instances have been reported in females, hormonal influence may not completely explain this neoplasm's pathogenesis. Close follow-up is warranted because of potential recurrence, metastasis, and anaplastic transformation. An ependymoma should be included in the differential diagnosis of intradural extramedullary tumors.
PMID: 21435777 [PubMed - indexed for MEDLINE]
Primary intradural extramedullary ependymoma: report of two cases and review of the literature.
Neurol Neurochir Pol. 2011 Jul-Aug;45(4):397-401
Authors: Tripathy P, Mohapatra D, Mohapatra S
Abstract
Primary intradural extramedullary ependymomas are very rare. They are called primary in this location as they do not have any connection with the central nervous system. They usually develop from an ectopic ependymal cell nest. To the best of our knowledge, only 10 cases have been described in the literature. We report two cases of large sausage-shaped intradural extramedullary ependymoma in the lumbosacral area.
PMID: 22102002 [PubMed - indexed for MEDLINE]
Pleomorphic xanthoastrocytoma - a clinico-pathological review.
Neurol Neurochir Pol. 2011 Jul-Aug;45(4):379-86
Authors: Sharma A, Nand Sharma D, Kumar Julka P, Kishor Rath G
Abstract
Pleomorphic xanthoastrocytoma (PXA) is a rare primary brain tumour which occurs in children and young adults. PXA is designated as low-grade astrocytoma (WHO II), although an anaplastic variant and malignant potential have been described. Pathologically, cellular pleomorphism is the rule and includes spindle cells, mononucleated and multinucleated giant cells, and granular bodies in a reticulin-rich background with few mitoses; necrosis is usually absent. The tumour cells stain positive for glial fibrillary acidic protein (GFAP). Surgery is the mainstay of treatment with gross surgical resection being accomplished due to its well-circumscribed nature and peripheral location. The role of adjuvant treatment remains yet to be clearly defined. To date, the majority of PXAs have been reported as single or small case series; consequently data of this rare brain tumour are fragmentary. The present paper reviews the pathogenesis, neuroradiological features, prognostic factors and treatment options for PXA.
PMID: 22101999 [PubMed - indexed for MEDLINE]
[Brain tumors in patients primarly treated psychiatrically].
Vojnosanit Pregl. 2011 Sep;68(9):809-14
Authors: Ristić DI, Vesna P, Sanja P, Dejanović SD, Milovanović DR, Ravanić DB, Vladimir J
Abstract
INTRODUCTION: Psychiatric symptoms are not rare manifestations of brain tumors. Brain tumors presented by symptoms of raised intracranial pressure, focal neurological signs, or convulsions are usually first seen by the neurologist or less frequently by the neurosurgeon in routine diagnostic procedures. On the other hand, when psychiatric symptoms are the first manifestation in "neurologically silent" brain tumors, the patients are sent to the psychiatrist for the treatment of psychiatric symptoms and brain tumors are left misdiagnosed for a long period of time.
CASE REPORT: We presented three patients with the diagnosed brain tumor where psychiatrist had been the first specialist to be consulted. In all three cases neurological examination was generally unremarkable with no focal signs or features of raised intracranial pressure. CT scan demonstrated right insular tumor in a female patient with obsessive-compulsive disorder (OCD); right parietal temporal tumor in a patient with delusions and depression and left frontal tumor in a patient with history of alcohol dependency.
CONCLUSION: Psychiatric symptoms/disorders in patients with brain tumors are not specific enough and can have the same clinical presentation as the genuine psychiatric disorder. Therefore, we emphasize the consideration of neuroimaging in patients with abrupt beginning of psychiatric symptoms, in those with a change in mental status, or when headaches suddenly appear or in cases of treatment resistant psychiatric disorders regardless the lack of neurological symptoms.
PMID: 22046890 [PubMed - indexed for MEDLINE]
Reirradiation and concomitant metronomic temozolomide: an efficient combination for local control in medulloblastoma disease?
J Pediatr Hematol Oncol. 2011 Dec;33(8):600-4
Authors: Padovani L, Andre N, Gentet JC, Figarella Branger D, Scavarda D, Verschuur A, Chinot O, Cowen D, Muracciole X
Abstract
Medulloblastoma (MB) is the most common malignant pediatric brain tumor and a rare adulthood tumor. Twenty percent to 30% of patients relapses and displays a poor prognosis. The management of recurrent disease represents a medical challenge as salvage therapy with high-dose chemotherapy is disappointing. We report a pilot study of reirradiation and concomitant metronomic temozolomide of MB focal recurrence. Five patients from 10 to 27 years old at time of first diagnosis were treated initially with upfront radiation therapy at full dose. They relapsed focally and progressed under chemotherapy with a time recurrence ranged from 2 to 15 years after initial diagnosis. Patients were then treated with 3-dimensional conformal reirradiation focused on the relapsed disease with a median dose of 28 Gy (1.8 Gy per fraction) and concomitant temozolomide (75 mg/m/d) alone or as part of a multidrug metronomic regimen. Five complete responses were obtained at the end of metronomic radiochemotherapy. The median follow-up was 28 months. At last follow-up, 3 patients progressed outside radiation field under maintenance chemotherapy, and 1 is free of disease. Only 1 patient relapsed in the reirradiation field. No neurological toxicity was observed. These results indicate a possible radiosensitizing effect of concomitant metronomic temozolomide with radiation therapy. This association could play a role in the management of high-risk MB patient with oligometastasis disease to increase local control.
PMID: 22042276 [PubMed - indexed for MEDLINE]
Solitary fibrous tumor of the central nervous system: report of an additional 5 cases with comprehensive literature review.
Int J Surg Pathol. 2011 Aug;19(4):476-86
Authors: Bisceglia M, Dimitri L, Giannatempo G, Carotenuto V, Bianco M, Monte V, D'Angelo V, Magro G
Abstract
Solitary fibrous tumor (SFT) of the central nervous system was first described in 1996. A number of cases have been reported since. The authors present 5 new cases: 4 intracranial and 1 intraspinal. All patients were adults (age range, 47 to 75 years); 4 were male and 1 female; 4 cases were primary tumors; and 1 was a second tumor recurrence. All patients were surgically treated with gross total removal. All cases were histologically examined with immunohistochemical confirmation; 2 tumors exhibited diffuse classic histology, 1 tumor was a cellular variant, 1 tumor was myxoid, and 1 was predominantly classic with focal myxoid features and focally pleomorphic. The postoperative course was uneventful in all. The patient with the cellular variant experienced 2 local recurrences and eventually died of disease 10 years after the initial diagnosis. The patient with the myxoid variant--the tumor studied--which was the second recurrence of a previously misdiagnosed fibrous meningioma surgically treated 15 years earlier, had a recurrence after 2 years for the third time and eventually died of disease. Three patients are alive and well 11.6, 6, and 4 years after surgery. SFT is a rare tumor that needs to be differentiated from some mimickers, mainly fibrous meningioma, hemangiopericytoma, and with regard to the myxoid variant, also adult-onset myxochordoid meningioma and myxoid peripheral nerve sheath tumor. Immunohistochemistry is crucial for the correct diagnosis of SFT. The authors also performed a review of the literature and found a little more than 200 cases on record.
PMID: 21878477 [PubMed - indexed for MEDLINE]
Spinal cord anaplastic oligodendroglioma with 1p deletion: report of a relapsing case treated with temozolomide.
J Neurooncol. 2011 Aug;104(1):387-94
Authors: Wang F, Qiao G, Lou X
Abstract
Primary spinal cord oligodendroglial tumor is very rare, and in only one patient with spinal cord oligodendroglioma has a deletion of chromosome 1p/19q been reported. We present the case of an 18-year-old girl, who had one-year lower back pain and one-month lower limb weakness. Magnetic resonance images of the spinal cord showed an intramedullary mass from level T8 to T10, which was then radically removed. Histology revealed an anaplastic oligodendroglioma. The patient was treated with radiotherapy postoperatively. Eight months after the treatment, follow-up magnetic resonance images disclosed an enhancing intramedullary mass at level T4-T8; recurrence of the tumor was therefore diagnosed. Maximum surgical removal of the recurrent tumor was performed, diagnosis of anaplastic oligodendroglioma was made, and a chromosome 1p deletion was determined by FISH. After treatment with temozolomide for six months, the patient had a remarkable improvement of her lower limb symptoms, and complete imaging regression of the residual tumor showed no evidence of recurrence at any other sites. The most recent MRI of brain and spinal cord showed postoperative changes without evidence of tumor recurrence of the spine and oligodendrogliomatosis along the cerebral-spinal axis. To our knowledge, this is the first report of a recurrent anaplastic oligodendroglioma with 1p deletion occurring in the spinal cord. It is also the first case of the patient with recurrent intramedullary anaplastic oligodendroglioma who had a significant clinical improvement and complete imaging remission after subtotal resection then treatment with temozolomide chemotherapy.
PMID: 21190059 [PubMed - indexed for MEDLINE]
Re-evaluation of the significance of cerebrospinal fluid human chorionic gonadotropin in detecting intracranial ectopic germinomas.
J Clin Neurosci. 2011 Feb;18(2):223-6
Authors: Tian C, Shi Q, Pu C, Huang X, Yu S, Zhang J, Huang D, Wang X, Liu R
Abstract
This study was conducted to establish a reference value for cerebrospinal fluid (CSF) human chorionic gonadotropin (hCG) levels. We also evaluated the sensitivity of CSF hCG as a biomarker to detect intracranial ectopic germinomas that arise in rare sites other than the pineal and suprasellar regions. CSF hCG was measured in 201 male patients who had various types of neurological disease (not tumours of germ cell origin or other malignant tumours). A reference value of 1.009 U/L was established, and the CSF hCG level among different age groups was not significantly different. CSF and serum hCG were measured before and after radiotherapy in 14 consecutive patients with intracranial ectopic germinomas. The CSF hCG levels were all above 1.009 U/L before radiotherapy. In male patients, a CSF hCG value above 1.009 U/L suggests abnormal intrathecal hCG secretion. These results demonstrate that the CSF hCG assay is a sensitive method for diagnosing intracranial ectopic germinoma.
PMID: 21163658 [PubMed - indexed for MEDLINE]
Lumbar chordoma mimicking a neurogenic tumour.
J Clin Neurosci. 2011 Feb;18(2):302-4
Authors: Khong P, Milross J, Cherukuri RK
Abstract
Chordomas are rare tumours arising from the primitive notochord along the axial skeleton, typically from the sacrococcygeal region, spheno-occipital region and less commonly, the mobile spine. Midline location associated with bony involvement with extension to the surrounding tissues is the norm. Chordomas presenting laterally, centred within the neural exit foramen and extending to the paraspinal muscles without significant vertebral involvement is rare. We present a 60-year-old woman with lower back pain and radiculopathy. Imaging revealed a unilateral lesion at L4/5 extending through the left neural exit foramen into the paraspinal region. There was only minimal apparent bony involvement. Though these features were highly suggestive of a neurogenic tumour, histopathology revealed the lesion to be a chordoma. Excision of the tumour was performed under neurophysiological monitoring.
PMID: 21163650 [PubMed - indexed for MEDLINE]
Cisplatin and temozolomide combination in the treatment of leptomeningeal carcinomatosis from ethmoid sinus intestinal-type adenocarcinoma.
J Neurooncol. 2011 Aug;104(1):381-6
Authors: Lombardi G, Zustovich F, Della Puppa A, Borgato L, Orvieto E, Manara R, Cecchin D, Berti F, Farina P, Gardiman MP, Scienza R, Zagonel V
Abstract
Intestinal-type adenocarcinoma of the nasal cavities and paranasal sinuses is a relatively rare tumor. Standard therapeutic modalities include surgery followed by radiotherapy, sometimes with chemotherapy treatment. Despite these treatments, the outcome is poor due to frequent local recurrences constituting the main cause of death among patients; leptomeningeal carcinomatosis is not a frequent event, and its presence indicates short expected survival. The therapy of neoplastic meningitis includes cranial irradiation, intrathecal chemotherapy and high-dose systemic chemotherapy. However, these approaches report important side effects with only modest efficacy. Thus, it is important to discover better treatment for this cancer complication. We present, for the first time, a case of leptomeningeal carcinomatosis from invasive intestinal-type adenocarcinoma treated with temozolomide and cisplatin chemotherapy obtaining a prolonged reduction and stabilization of the lesion improving the clinical condition of the patient.
PMID: 21140282 [PubMed - indexed for MEDLINE]
Radiotherapy-induced supratentorial primitive neuroectodermal tumour in a 17-year-old female: a case report and review of the literature.
Acta Neurochir (Wien). 2011 Feb;153(2):413-7
Authors: Sobowale OA, McCabe M, Pal P, Soh C, Karabatsou K
Abstract
We report a case of a 17-year-old female who presented with a CNS primitive neuroectodermal tumour 12 years after cranial radiotherapy for relapsed childhood acute lymphoblastic leukaemia. In this article, we discuss the association of these rare tumours with previous craniospinal irradiation and review the pertinent literature.
PMID: 21125410 [PubMed - indexed for MEDLINE]
Focal cortical dysplasia coexisting with diffuse astrocytoma in childhood: a case report and reappraisal of the glial component in archival FCD cases.
Neuropathology. 2011 Aug;31(4):433-9
Authors: Masui K, Suzuki SO, Hashiguchi K, Morioka T, Yoshiura T, Sasaki T, Iwaki T
Abstract
We report a rare case of focal cortical dysplasia (FCD) concurring with diffuse astrocytoma and arachnoid cyst, and also re-evaluate the glial component in archival FCD cases for the differential diagnosis of diffuse gliomas. A 7-year-old boy with a 9-month history of psychomotor seizures disclosed a hyperintense area accompanied by a cystic lesion in the left temporal lobe on MRI. The surgical specimen displayed dyslamination of the cortices and ectopic neurons in the white matter, associated with dysmorphic neurons, indicating FCD type IIA. Additionally, the lesion showed diffuse proliferation and infiltration of glial cells, immunopositive for infiltrating glioma markers (nestin, doublecortin, MAP-2e) and p53, and MIB-1 index was 2.0%. These findings indicated coexisting diffuse astrocytoma. Coexistence of diffuse glioma with FCD is unusual, but we often notice increased population of small glial cells in FCD lesions. Re-evaluation of archival FCD cases with diverse markers revealed that reactive microglia significantly proliferate in the white matter lesions. Therefore, a careful pathological assessment has to be made to define a rare case of diffuse glioma occurring in FCD.
PMID: 21118400 [PubMed - indexed for MEDLINE]
Guillain-Barré syndrome and glioblastoma.
J Neurooncol. 2011 Aug;104(1):371-3
Authors: Melguizo I, Gilbert M, Tummala S
Abstract
Guillain-Barré syndrome (GBS) is defined as an acute demyelinating peripheral neuropathy. We describe a case of GBS in a patient with glioblastoma undergoing chemotherapy treatment. A 57 year old woman diagnosed with glioblastoma developed a subacute progressive history of bilateral symmetric numbness of her fingers and toes, belt-type neuropathic pain, a left facial droop and upper and lower extremity muscle weakness. There was no evidence of a tumor mass or leptomeningeal disease in the spine. Electrophysiological studies confirmed the diagnosis. Although rare, GBS should be considered in primary brain tumor patients with generalized acute-subacute progressive weakness that is inconsistent with the location of their tumor, particularly if they are also on chemotherapy contributing to their immunosuppressive state.
PMID: 21104295 [PubMed - indexed for MEDLINE]
Primary CNS plasmablastic lymphoma: report of a case with CSF cytology, flow cytometry, radiology, histological correlation, and review of the literature.
Diagn Cytopathol. 2011 Aug;39(8):616-20
Authors: Urrego PA, Smethurst M, Fowkes M, Peterson B, Strauchen J, Wu M, Szporn AH, Chen H
Abstract
Plasmablastic lymphoma (PBL) is a rare subtype of diffuse large B cell lymphoma and commonly presents as an oral mass in HIV patients. Extraoral PBL has been reported, including one case of primary central nervous system PBL (PCNSPBL). The cytological features of PBL have been described, including cerebrospinal fluid (CSF) cytology findings for secondary CNS involvement by PBL. The etiology of PCNSPBL is still unknown. We report here the CSF cytology of a PCNSPBL, which shows a hypercellular specimen composed of markedly atypical, singly dispersed plasmacytoid cells with frequent abnormal mitoses and binucleation. The neoplastic cells are positive for CD138. Flow cytometry of the CSF specimen demonstrates a monoclonal neoplastic cell population, which is CD138 positive, kappa light chain positive, lambda light chain negative, and CD19 negative. Molecular analysis and immunohistochemical stains on a tissue biopsy confirmed the diagnosis and reveal concurrent infections with Epstein-Barr virus and human polyomavirus JC virus. Clinical and radiological correlations are reported, and the literature is reviewed. To the best of our knowledge, this is the first case report for CSF cytology of a PCNSPBL, demonstrating the utility of the cytological examination in the triage and diagnosis of this disease. Because of its dismal prognosis, it is critical for cytopathologists to be aware of the entity and recognize the neoplastic cells in CSF specimen. This report also emphasizes the importance of clinical and radiological correlation in the diagnosis of this lethal disease.
PMID: 20949461 [PubMed - indexed for MEDLINE]
Unusual presentation of gastrointestinal stromal tumor with early cerebral involvement.
Ir J Med Sci. 2011 Sep;180(3):765-6
Authors: Janku F, Kidney D, Coyne J
Abstract
Gastrointestinal stromal tumor (GIST) is a rare tumor typically arising from gastrointestinal tract. GIST very rarely metastasizes beyond abdominal cavity. Metastatic spread to the brain is anecdotal. This is a case study describing metastatic GIST with early cerebral involvement and resistance to therapy with KIT tyrosine kinase inhibitor imatinib mesylate.
PMID: 20878498 [PubMed - indexed for MEDLINE]
[Intracranial tuberculoma simulating a malignant tumor: Case report and literature review.]
Neurocirugia (Astur). 2011 Nov;22(6):600-604
Authors: Álvarez-Salgado JA, Ruiz-Ginés JA, Fuentes-Ventura CD, Gonzales-Sejas AG, Belinchón de Diego JM, González-Llanos Fernández de Mesa F, Rodríguez de Lope-Llorca A
Abstract
INTRODUCTION. Extrapulmonary manifestations of tuberculosis involving the central nervous system (CNS) due to haematogenous spread are not a rare entity. Tuberculoma is a granulomatous inflammatory process mimicking in rare occasions a malignant neoplasm radiologically. The authors report a case of a giant right frontal tuberculoma mimicking a malignant tumor and review the literature. CASE REPORT. A sixtyfour-year-old women with several weeks of headache and behavior alterations admitted at the hospital with light right hemiparesis. The MRI showed a left frontal tumor suggestive of a malignant tumor. CT showed bone infiltration. At surgery, a nodular, avascular lesion was found and pathological examination confirmed granulomatous inflammation suspecting tuberculoma. Mycobacterium tuberculosis complex-specific PCR assay confirmed diagnosis. Intracranial tuberculoma is an uncommon variety of central nervous system tuberculosis. The prognosis is related to the early diagnosis, surgical resection and the complementary antituberculosis treatment. CONCLUSIONS. We present the unusual presentation of a giant brain tuberculoma which MRI led us to believe was a malignant tumor. Computed Tomography revealed bone infiltration. Positive diagnosis could be established on the basis of the pathology results of a brain biopsy or detection of DNA of Mycobacterium tuberculosis in the PCR study.
PMID: 22167292 [PubMed - as supplied by publisher]
In vitro radiosensitizing effects of ultrasmall gadolinium based particles on tumour cells.
J Nanosci Nanotechnol. 2011 Sep;11(9):7833-9
Authors: Mowat P, Mignot A, Rima W, Lux F, Tillement O, Roulin C, Dutreix M, Bechet D, Huger S, Humbert L, Barberi-Heyob M, Aloy MT, Armandy E, Rodriguez-Lafrasse C, Le Duc G, Roux S, Perriat P
Abstract
Since radiotherapy is widely used in cancer treatment, it is essential to develop strategies which lower the irradiation burden while increasing efficacy and become efficient even in radio resistant tumors. Our new strategy is relying on the development of solid hybrid nanoparticles based on rare-earth such as gadolinium. In this paper, we then evidenced that gadolinium-based particles can be designed to enter efficiently into the human glioblastoma cell line U87 in quantities that can be tuned by modifying the incubation conditions. These sub-5 nm particles consist in a core of gadolinium oxide, a shell of polysiloxane and are functionalized by diethylenetriaminepentaacetic acid (DTPA). Although photoelectric effect is maximal in the [10-100 keV] range, such particles were found to possess efficient in-vitro radiosensitizing properties at an energy of 660 keV by using the "single-cell gel electrophoresis comet assay," an assay that measures the number of DNA damage that occurs during irradiation. Even more interesting, the particles have been evidenced by MTT assays to be also efficient radiosensitizers at an energy of 6 MeV for doses comprised between 2 and 8 Gy. The properties of the gadolinium-based particles give promising opening to a particle-assisted radio-therapy by using irradiation systems already installed in the majority of hospitals.
PMID: 22097494 [PubMed - indexed for MEDLINE]
Skin metastasis from sigmoid colon cancer.
Int Surg. 2011 Apr-Jun;96(2):135-8
Authors: Horiuchi A, Nozawa K, Akahane T, Shimada R, Shibuya H, Aoyagi Y, Nakamura K, Hayama T, Yamada H, Ishihara S, Matsuda K, Watanabe T
Abstract
Skin metastases from visceral cancers are rare and the reported incidence from all visceral cancers is 1.4% to 10%. Skin metastases from colorectal cancers account for only 5% of metastatic skin cancers, among which scalp metastases are very rare. We describe a 53-year-old man with scalp metastasis derived from sigmoid colon cancer that was diagnosed and surgically resected in 2005. Metastatic lung tumors that developed thereafter were surgically resected and then chemotherapy was administered. However, metastatic brain tumors occurred in 2008, and these were treated by gamma-knife radiosurgery. Around the same time, a raised lesion that appeared on the scalp was diagnosed as skin metastasis and treated with best supportive care. Thereafter, the brain metastases continued to spread, and the patient died in October 2008.
PMID: 22026304 [PubMed - indexed for MEDLINE]
[A case of metastatic choroid plexus tumor from cholangiocellular carcinoma].
No Shinkei Geka. 2011 Oct;39(10):991-7
Authors: Kurisu K, Kamoshima Y, Terasaka S, Kobayashi H, Kubota K, Houkin K
Abstract
Metastatic intraventricular tumor located in the choroid plexus is very rare. Only a few cases have been reported in the past. According to past reports, these tumors originated from lung, colon, and so on, but not from the bile duct. This is the first case report of choroid plexus metastasis from cholangiocellular carcinoma. A 57-year-old woman who had a history of cholagiocellular carcinoma, demonstrated intraventricular tumor. Although sufficient examination was performed, the tumor was difficult to diagnose as being a metastatic tumor or a choroid plexus carcinoma. Because of this, we performed endoscopic biopsy of the intraventricular tumor. However intraoperative findings were not helpful in distinguishing metastatic tumor and choroid plexus carcinoma. Postoperatively, histological examination was performed. However it was still difficult to differentiate this rare tumor from choroid plexus carcinoma by only hematoxylin and eosin stain. For further examination, Ber EP-4 stain was performed. Ber EP-4 showed strongly positive which indicates metastatic tumor. This method led us to make an appropriate diagnosis of this extremely rare tumor. We considered that in order to diagnose this rare tumor, appropriate histopathological examination, including immunohistopathological examination should be performed.
PMID: 21972189 [PubMed - indexed for MEDLINE]
Imaging findings in mandibular primitive neuroectodermal tumour: a report of a rare case and review of the literature.
Dentomaxillofac Radiol. 2011 Oct;40(7):451-6
Authors: Yeh CH, Yeow KM, Chu SY, Pan KT, Hung CF, Hsueh S, Su IH
Abstract
Primitive neuroectodermal tumours (PNETs) are aggressive undifferentiated tumours that occur mainly in the central nervous system (CNS). Reviewing the literature, only six cases of primary PNET of the mandible have been reported. These rare tumours are usually overlooked in clinical practice. An 18-year-old woman who presented with dental caries and left cheek swelling was initially diagnosed with facial cellulitis, but the swelling persisted despite adequate intravenous antibiotic therapy. Subsequent ultrasound and MR examinations revealed a tumour originating from the left mandibular ramus. The ultrasonography-guided percutaneous core needle biopsy confirmed the diagnosis of peripheral PNET. The radiographic features of mandibular PNETs are similar to those of PNETs in other regions, except for haemorrhage, necrosis and calcification. In addition, this is the first reported case with sonographic and MR images of this rare tumour, and the first case that was diagnosed based on the ultrasonography-guided percutaneous core needle biopsy. Using these image characteristics, mandibular PNETs can be diagnosed more accurately.
PMID: 21960404 [PubMed - indexed for MEDLINE]
Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma.
Clin Neuropathol. 2011 Sep-Oct;30(5):235-41
Authors: Santi M, Feygin T, Dougherty MJ, Biegel JA, Harding B
Abstract
Two unrelated female infants presented at 9 days and 2 months, respectively, with apneic episodes in the former and gaze preference in the latter. MRI revealed enlargement of almost the entire right hemisphere, apparently smooth cortex, simplification of the gyral pattern, and expanded white matter with abnormal signal intensity containing multiple intraparenchymal cysts. Histologic examination of both cases revealed white matter infiltration by a hypocellular lesion composed of uniform, fibrillary astrocytes in a microcystic background. Multilocular tumor cysts were prominent, but Rosenthal fibers and eosinophilic granular bodies were absent. Very rare mitoses were seen in the absence of necrosis or vascular change. There was no convincing cortical infiltration, but the subpial zone was diffusely expanded by a band of astrocytes set in a dense fibrillar feltwork which opened out into numerous cystic spaces. No desmoplastic changes or associated atypical ganglion cells were identified. There was no evidence for a BRAFKIAA1549 fusion or BRAF mutation in one case tested. In conclusion, both lesions are not desmoplastic infantile astrocytoma/ganglioglioma, fibrillary astrocytoma, or typical for pilocytic astrocytoma. Such extreme subpial spread with cysts is most unusual and may suggest a novel variant of infantile astrocytoma.
PMID: 21955927 [PubMed - indexed for MEDLINE]
Diagnostic utility of IDH1- and p53-mutation analysis in secondary gliosarcoma.
Clin Neuropathol. 2011 Sep-Oct;30(5):231-4
Authors: Romeike BF, Chen Y, Walter J, Petersen I
Abstract
We report on a 47-year-old woman in whom an anaplastic astrocytoma was resected in 2006. Postoperative radiation had to be interrupted because of a wound infection necessitating explantation of the infected bone flap and implantation of a titanium mesh. Subsequently, radiation therapy was completed and temozolomide was administered for 45 cycles. In the beginning of 2010 a new contrast enhancing mass was seen in the former tumor region. The mass was subtotally excised and showed no histomorphological similarity to the first lesion but represented a highly pleomorphic and mainly sarcomatoid differentiated malignant tumor. The lack of expression of GFAP or MAP-2 raised the question of a secondary malignancy, however, molecular genetic analysis of IDH1 and p53 revealed the same mutations in the anaplastic astrocytoma from 2006 as in the sarcomatoid tumor operated in 2010. Furthermore, accumulation of mutated IDH1 and TP53 protein could be demonstrated immunohistochemically. Thus, the second tumor represented the rare instance of recurrence of an anaplastic astrocytoma as a secondary gliosarcoma and a second malignant neoplasm was ruled out. The postoperative therapy and the inflammation might have contributed to the severe change in morphological phenotype of the glioma.
PMID: 21955926 [PubMed - indexed for MEDLINE]
[Extraventricular neurocytoma: a rare cause of temporal lobe epilepsy].
Rofo. 2011 Nov;183(11):1065-6
Authors: Treier M, Doostkam S, Meckel S
PMID: 21915811 [PubMed - indexed for MEDLINE]
Age, gender, and racial differences in incidence and survival in primary CNS lymphoma.
Br J Cancer. 2011 Oct 25;105(9):1414-8
Authors: Villano JL, Koshy M, Shaikh H, Dolecek TA, McCarthy BJ
Abstract
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a rare subtype of extranodal non-Hodgkin lymphoma that accounts for ~4% of newly diagnosed central nervous system (CNS) tumours. The objective of this study was to analyse the epidemiology, incidence, and outcome of these rare tumours.
METHODS: Primary brain and CNS lymphoma cases were identified from the Surveillance, Epidemiology, and End Results (SEER) research data sets for the years 1980-2008 for analysis of trends in incidence and survival. SEER(*)Stat v. 7.0.4 software was used to analyse the data.
RESULTS: The overall incidence rate of PCNSL was 0.47 per 100,000 person-years. The incidence was significantly higher in males compared with females, blacks aged 0-49 years at diagnosis compared with whites, and whites aged 50 years and older at diagnosis compared with blacks. After a significant decline in incidence between 1995 and 1999, incidence rates rose slightly; those aged 75+ years at diagnosis had the most dramatic increase in incidence rates over time. Five-year survival rates were significantly higher in whites compared with blacks aged 0-49 years at diagnosis, but was primarily driven by white women aged 0-49 years.
CONCLUSION: There is an increase in incidence of PCNSL in the elderly, and elderly blacks have lower incidence compared with white population. Survival remains poor and is negatively dominated by factors associated with HIV infection and advanced age.
PMID: 21915121 [PubMed - indexed for MEDLINE]
Solitary fibrous tumor of the central nervous system: a 15-year literature survey of 220 cases (August 1996-July 2011).
Adv Anat Pathol. 2011 Sep;18(5):356-92
Authors: Bisceglia M, Galliani C, Giannatempo G, Lauriola W, Bianco M, D'angelo V, Pizzolitto S, Vita G, Pasquinelli G, Magro G, Dor DB
Abstract
We reviewed the world literature on solitary fibrous tumors of the central nervous system from August 1996 to July 2011, focusing on both clinicopathological features and diagnostic findings. The anatomical distribution of the 220 cases reported so far reveals that most are intracranial and just over one-fifth are intraspinal. In decreasing frequency, intracranial tumors involve the supratentorial and infratentorial compartments, the pontocerebellar angle, the sellar and parasellar regions, and the cranial nerves. Intraspinal tumors are mainly located in the thoracic and cervical segments. Although most solitary fibrous tumors of the central nervous system are dural based, a small subset presents as subpial, intraparenchymal, intraventricular, or as tumors involving the nerve rootlets with no dural connection. Preoperative imaging and intraoperative findings suggest meningioma, schwannoma or neurofibroma, hemangiopericytoma, or pituitary tumors. Immunohistochemistry is critical to establish a definitive histopathological diagnosis. Vimentin, CD34, BCL2, and CD99 are the most consistently positive markers. The usual histologic type generally behaves in a benign manner if complete removal is achieved. Recurrence is anticipated when resection is subtotal or when the tumor exhibits atypical histology. The proliferative index as assessed by MIB1 labeling is of prognostic significance. Occasionally, tumors featuring conventional morphology may recur, perhaps because of minimal residual disease left behind during surgical extirpation. Rare extracranial metastases and tumor-related deaths are on record. Surgery is the treatment of choice. Stereotactic and external beam radiation therapy may be indicated for postsurgical tumor remnants and for unresectable recurrences. Long-term active surveillance of the patients is mandatory.
PMID: 21841406 [PubMed - indexed for MEDLINE]
Posterior fossa dermoid with Klippel-Feil syndrome in a child.
Pediatr Neurol. 2011 Sep;45(3):197-9
Authors: Ramzan A, Khursheed N, Rumana M, Abrar W, Ashish J
Abstract
Intracranial dermoid tumors constitute a rare entity. Their association with Klippel-Feil anomaly is all the more rare. These lesions, if associated with dermal sinuses, receive attention when a patient presents with features of central nervous system infection. We describe a 5-year-old girl who presented with purulent discharge from an occipital dermal sinus with an infected posterior fossa dermoid associated with cerebellar abscesses and characteristic Klippel-Feil anomaly.
PMID: 21824571 [PubMed - indexed for MEDLINE]
Leptomeningeal carcinomatosis of gastric adenocarcinoma.
Turk J Gastroenterol. 2011;22(2):195-8
Authors: Bulut G, Erden A, Karaca B, Göker E
Abstract
Gastric cancer is the third most common malignancy among gastrointestinal malignancies. With the advance of new treatments, overall survival in gastric cancer is extending, and metastasis to atypical sites is seen more commonly. Leptomeningeal metastasis is one such atypical metastasis for gastric cancer. We report a case of gastric adenocarcinoma with leptomeningeal metastasis as an atypical involvement. A 39-year-old female, presenting with headache, vertigo, horizontal gaze palsy, visual disturbances, and seizures, was admitted to our hospital in August 2009. The funduscopic examination revealed the presence of bilateral papilledema. Magnetic resonance imaging of the brain showed diffuse leptomeningeal enhancement and biventricular dilatation. Cytological examination of the cerebrospinal fluid revealed malignant cells. These findings were consistent with leptomeningeal carcinomatosis. Six months before, she was diagnosed as having gastric cancer by upper gastrointestinal tract endoscopy, which was performed as a part of the diagnostic work-up to clarify the cause of her abdominal ascites. She received six cycles of docetaxel-cisplatin-5-fluorouracil for metastatic gastric cancer, and she developed the above-mentioned symptoms under chemotherapy. She was included in a craniospinal radiotherapy program and received intrathecal methotrexate treatment. We present this case report since leptomeningeal carcinomatosis of gastric cancers is a rare clinical entity, and treatment strategies remain challenging for clinicians.
PMID: 21796558 [PubMed - indexed for MEDLINE]
Diagnosis and management of acromegaly: giant invasive adenoma.
Acta Med Indones. 2011 Apr;43(2):122-8
Authors: Cahyanur R, Setyawan W, Sudrajat DG, Setyowati S, Purnamasari D, Soewondo P
Abstract
Acromegaly is a rare disorder caused by excessive growth hormone. Majority of acromegaly are due to pituitary adenoma. It is estimated that 5% of pituitary adenoma become invasive and may grow to gigantic sizes (>4 cm in diameter). We would like to describe a man with giant invasive adenoma. We describe the case of 52-year-old man with acromegaly. The patient was presented to medical care because of hemichorea. He also had visual field defect, uncontrolled diabetes, and dyslipidemia. Hormonal profile showed increment of GH 2-hour after a standard 75-g oral glucose load and of high IGF-1 level with low level of FSH and LH. The next was performed by pituitary imaging. Magnetic resonance imaging showed a macroadenoma with diameter 2.3x3.5x6.6 cm3 that fills the sella tursica, and enlarges into suprasella, genu of corpus collosum, and invades third ventricle. This report describes a rare case of acromegalic patient with giant invasive adenoma. This could be a demonstrative case and lesson for diagnosis and manage acromegalic patient.
PMID: 21785175 [PubMed - indexed for MEDLINE]
Angiomatous meningioma of orbit mimicking as malignant neoplasm: a case report and literature review.
Orbit. 2011 Aug;30(4):183-5
Authors: Bodla AA, Mehta P, Mushtaq F, Durrani OM
Abstract
Angiomatous meningioma is a rare and distinct meningioma variant characterised with predominance of microvascularcomponent.There are few reported cases in literature with limited information on ophthalmic manifestations and radiological findings. There is no consistent feature reported so far of this neoplasm to aid in its diagnosis. Authors report an interesting case of Angiomatous Meningioma presenting as an aggressively expanding orbital mass lesion with adjacent bony destruction mimicking a malignant neoplasm.
PMID: 21780930 [PubMed - indexed for MEDLINE]
Metastatic medulloblastoma at diagnosis.
J Cancer Res Ther. 2011 Apr-Jun;7(2):203-4
Authors: Gupta S, Pant MC, Husain N, Sundar S
Abstract
Medulloblastoma is an aggressive tumor of the brain. It is the most common and the most malignant embryonal tumor of the pediatric central nervous system and a rare tumor of adults. We are reporting a rare presentation of adult classic subtype of medulloblastoma which was central in location with metastases in the suprasellar region at the time of diagnosis.
PMID: 21768715 [PubMed - indexed for MEDLINE]