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PubMed - Rare Brain Tumor (53 unread)

A patient with granulomatous amoebic encephalitis caused by Balamuthia mandrillaris survived with two excisions and medication

Fetched: January 17th, 2022, 5:01am GMT by Limei Peng

BMC Infect Dis. 2022 Jan 15;22(1):54. doi: 10.1186/s12879-021-07020-8.

ABSTRACT

BACKGROUND: Granulomatous amoebic encephalitis (GAE) is a rare central nervous system infection caused by the Balamuthia mandrillaris or Acanthamoeba species. Diagnosis is challenging because of the non-specific clinical presentation, cerebrospinal fluid analysis, and radiological features. There is no effective treatment for GAE to date.

CASE PRESENTATION: A 54-year-old male was admitted to hospital after experiencing acute onset of numbness and weakness on his left limb. Due to the initial consideration of intracranial tumor, surgical removal of the right parietal lesion was performed. However, the patient had a headache accompanied by diplopia, difficulty walking and a new lesion was found in the left occipital-parietal lobe two weeks after the first operation. High-throughput next-generation sequencing (NGS) detected the presence of high copy reads of the B. mandrillaris genome sequence in the patient's blood, cerebral spinal fluid (CSF), and brain tissue. Pathological investigation of the brain tissue showed granulomatous changes and amoebic trophozoite scattered around blood vessels under high magnification. The patient was re-operated due to developing progressive confusion caused by subfalcine herniation of the left cerebral hemisphere. The lesions of the right parietal lobe were obviously decreasing in size after the first surgery, and the lesions of the left occipital lobe and the sunfalcine herniation didn't ameliorate two months after the second surgery. The patient was transferred to local hospital for continuous treatment with sulfamethoxazole and azithromycin. After five months of the second surgery, the patient showed good recovery with mild headache.

CONCLUSIONS: This is the first report of a patient with B. mandrillaris encephalitis initially confirmed by NGS and have experienced two excisions, responding favorably to the combination of surgeries and medications. Early surgical resection of intracranial lesions combined with drug treatment may offer the chance of a cure.

PMID:35032997 | DOI:10.1186/s12879-021-07020-8
Gastric and colonic metastasis from NSCLC: A very unusual case report

Fetched: January 15th, 2022, 5:01am GMT by Martina Catalano

Medicine (Baltimore). 2022 Jan 14;101(2):e28249. doi: 10.1097/MD.0000000000028249.

ABSTRACT

RATIONALE: Lung cancer is the most common cause of cancer-related deaths worldwide. Approximately 50% of patients is metastatic at diagnosis and the most common metastatic sites are bone, lungs, brain, adrenal glands, liver, and extra thoracic lymph nodes. The occurrence of gastrointestinal metastasis from lung carcinoma is rare and seems more commonly related to small cell lung cancer compared to non-small cell lung cancer (NSCLC).

PATIENT INFORMATION AND DIAGNOSIS: A 78-year-old man with completely surgically resected NSCLC and no initial evidence of distant metastases developed colon and gastric metastases 7 months after diagnosis, confirmed by serial radiological examinations and endoscopic biopsies.

INTERVENTIONS: The patient was subjected to total gastrectomy with D2 lymph node dissection plus partial colectomy for intraoperative detection of a transverse colon neoformation. Subsequent instrumental imaging showed bilateral lung tumor recurrence, treated with gemcitabine monotherapy for 8 months as first line chemotherapy for lung adenocarcinoma.

RESULTS: The patient presented complete response to therapy and was disease-free for 4 years.

LESSONS: Colonic and gastric metastasis are very infrequent in NSCLC. The resection of gastrointestinal metastasis may provide benefits in terms of both symptom control and survival in patients properly selected.

PMID:35029172 | DOI:10.1097/MD.0000000000028249
Successful Treatment of Primary CNS Extranodal NK/T-Cell Lymphoma with Surgery and Chemotherapy Combined with Sintilimab: A Case Report and Literature Review

Fetched: January 14th, 2022, 5:01am GMT by Liping Qin

Onco Targets Ther. 2022 Jan 6;15:1-11. doi: 10.2147/OTT.S343400. eCollection 2022.

ABSTRACT

Primary central nervous system extranodal natural killer/T-cell lymphoma (PCNS ENK/TCL) is an extremely rare lymphoma. Only 23 cases of PCNS ENK/TCL have been reported in the English literature. Due to the rarity of this lymphoma, an effective therapeutic strategy has not been defined. Generally, this type of lymphoma is treated with surgery, intrathecal chemotherapy, and postoperative chemoradiation therapy. The prognosis is poor. Herein, we present a case of primary brain NK/T cell lymphoma in a 50-year-old immunocompetent Chinese female and review the literature. The patient underwent intracranial tumor resection and was subsequently treated with a PD1 monoclonal antibody (Sintilimab) combined with chemotherapy. The patient survived 15 months after diagnosis. This is the first report of PCNS ENK/TCL treated with surgery and chemotherapy combined with immunotherapy and suggests an effective treatment regimen for PCNS ENK/TCL.

PMID:35023929 | PMC:PMC8747803 | DOI:10.2147/OTT.S343400
Case of Adult Metastatic Medulloblastoma Demonstrated on 18F-DOPA PET/CT

Fetched: January 14th, 2022, 5:01am GMT by Fahad Marafi

Clin Nucl Med. 2022 Jan 12. doi: 10.1097/RLU.0000000000004037. Online ahead of print.

ABSTRACT

18F-DOPA is a promising radiotracer used for both staging and restaging of primary brain tumors based on increased transport via the L-type large neutral amino acid transport system in tumor cells. Adult medulloblastoma is extremely rare. We present a case of 25-year-old man with posterior fossa medulloblastoma treated with surgery followed by chemotherapy and radiotherapy 5 years back, which later developed metastasis to left cerebral lobe treated with gamma knife followed by surgical debulking. Recent 18F-DOPA PET/CT demonstrates recurrence and disease progression on follow-up scan. 18F-DOPA PET/CT is extremely useful for characterizing brain tumors, response assessment, and prognosis.

PMID:35025808 | DOI:10.1097/RLU.0000000000004037
Pediatric glioblastoma: mechanisms of immune evasion and potential therapeutic opportunities

Fetched: January 13th, 2022, 5:01am GMT by Rosy Njonkou

Cancer Immunol Immunother. 2022 Jan 12. doi: 10.1007/s00262-021-03131-y. Online ahead of print.

ABSTRACT

Pediatric glioblastoma is relatively rare compared with its adult counterpart but is associated with a similarly grim prognosis. Available data indicate that pediatric glioblastomas are molecularly distinct from adult tumors, and relatively little is known about the pediatric glioblastoma tumor microenvironment (TME). Cancer immunotherapy has emerged as a new pillar of cancer treatment and is revolutionizing the care of patients with many advanced solid tumors, including melanoma, non-small cell lung cancer, head and neck cancer, and renal cell carcinoma. Unfortunately, attempts to treat adult glioblastoma with current immunotherapies have had limited success to date. Nevertheless, the immune milieu in pediatric glioblastoma is distinct from that found in adult tumors, and evidence suggests that pediatric tumors are less immunosuppressive. As a result, immunotherapies should be specifically evaluated in the pediatric context. The purpose of this review is to explore known and emerging mechanisms of immune evasion in pediatric glioblastoma and highlight potential opportunities for implementing immunotherapy in the treatment of these devastating pediatric brain tumors.

PMID:35020009 | DOI:10.1007/s00262-021-03131-y
A patient with two gliomas with independent oligodendroglioma and glioblastoma biology proved by DNA-methylation profiling: a case report and review of the literature

Fetched: January 13th, 2022, 5:01am GMT by Theo F J Kraus

Brain Tumor Pathol. 2022 Jan 11. doi: 10.1007/s10014-021-00423-0. Online ahead of print.

ABSTRACT

Here, we report on a patient presenting with two histopathologically distinct gliomas. At the age of 42, the patient underwent initial resection of a right temporal oligodendroglioma IDH mutated 1p/19q co-deleted WHO Grade II followed by adjuvant radiochemotherapy with temozolomide. 15 months after initial diagnosis, the patient showed right hemispheric tumor progression and an additional new left frontal contrast enhancement in the subsequent imaging. A re-resection of the right-sided tumor and resection of the left frontal tumor were conducted. Neuropathological work-up showed recurrence of the right-sided oligodendroglioma with features of an anaplastic oligodendroglioma WHO Grade III, but a glioblastoma WHO grade IV for the left frontal lesion. In depth molecular profiling revealed two independent brain tumors with distinct molecular profiles of anaplastic oligodendroglioma IDH mutated 1p/19q co-deleted WHO Grade III and glioblastoma IDH wildtype WHO grade IV. This unique and rare case of a patient with two independent brain tumors revealed by in-depth molecular work-up and epigenomic profiling emphasizes the importance of integrated work-up of brain tumors including methylome profiling for advanced patient care.

PMID:35018523 | DOI:10.1007/s10014-021-00423-0
Driver mutations in ADGRL3 are involved in the evolution of ependymoma

Fetched: January 12th, 2022, 5:01am GMT by Jing Wang

Lab Invest. 2022 Jan 10. doi: 10.1038/s41374-021-00721-3. Online ahead of print.

ABSTRACT

Although there have been recent advances in the molecular pathology of ependymomas, little is known about the underlying molecular evolution during its development. Here, we assessed the clinical, pathological and molecular evolutionary process of ependymoma recurrence in a 9-year-old patient who had seven recurrences of supratentorial ependymoma and died from intracranial multiregional recurrences at the age of 19 years old. Whole-genome sequencing (WGS) of 7 tumor samples (1 primary and 6 subsequent recurrent tumors) was performed to elucidate the mutation landscape and identify potential driver mutations for tumor evolution. The genetic profiles of the seven tumor specimens showed significant heterogeneity and suggested a highly branched evolutionary pattern. The mutational signatures and chromothripsis changed with treatments. Strikingly, adhesion G protein-coupled receptor L3 (ADGRL3, also known as Latrophilins 3, LPNH3) was found to be consistently mutated during the entire disease process. However, Sanger sequencing of other 78 ependymoma patients who underwent surgery at our institution showed no genetic alteration of ADGRL3, as found in the present case. The mRNA levels of ADGRL3 were significantly lower in ependymomas (n = 36), as compared with normal brain tissue (n = 3). Grade III ependymomas had the lowest ADGRL3 expression. Moreover, ependymomas with lower mRNA level of ADGRL3 had shorter overall survival. Our findings, therefore, demonstrate a rare evolutionary process of ependymoma involving ADGRL3.

PMID:35013530 | DOI:10.1038/s41374-021-00721-3
Granulosa Theca Cell Cancer

Fetched: January 12th, 2022, 5:01am GMT by Shafeek Shamsudeen

2021 Dec 20. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–.

ABSTRACT

Granulosa theca cell cancers include ovarian tumors, which consist of granulosa cells, theca cells, and fibroblasts in variable combinations. Granulosa cells in the sex cords produce sex steroids and several peptides needed for folliculogenesis and ovulation. They also give rise to granulosa theca cell tumors (GCT), which form about 5 percent of ovarian neoplasms and are the commonest sex cord-stromal tumors of the ovary (70 percent). There are two distinct types of GCT -adult and juvenile forms- based on characteristic clinicopathologic features. The adult type is the commonest variety and manifests in peri- or post-menopausal women, while the juvenile type constitutes only 5 percent of cases and occurs in prepubertal girls and young women.

Theca cells are present in the ovarian stroma and play an essential role in fertility by producing the androgen substrate required for ovarian estrogen biosynthesis. Thecomas are uncommon and comprise less than 7 percent of sex cord-stromal tumors. They are usually benign and have an excellent prognosis. Malignant thecoma is rare and most often contains an element of granulosa cells, too, and hence the article focuses on GCTs unless otherwise specified. Finally, GCTs are distinct from epithelial ovarian cancers in that they are detected in the early stage, often in young females, and usually manifest with abdominal distension, pain, or rarely with features of hyperestrogenism/virilization.

The extra ovarian spread is to the omentum and peritoneum and occasionally to the lungs, liver, or brain via hematogenous spread. Lymph node metastases are uncommon. These tumors are treated by surgery alone and have a good prognosis. However, they tend to have an indolent progression that is prone to late recurrence that is seen in as many as up to 25 percent despite having curative surgery.

PMID:33351430 | Bookshelf:NBK565872
CircPIK3C2A Facilitates the Progression of Glioblastoma via Targeting miR-877-5p/FOXM1 Axis

Fetched: January 11th, 2022, 5:01am GMT by Jian Yang

Front Oncol. 2021 Dec 24;11:801776. doi: 10.3389/fonc.2021.801776. eCollection 2021.

ABSTRACT

Glioblastoma is a rare yet lethal type of tumor that poses a crucible for the medical profession, owing to its rapid proliferation and invasion resulting in poor prognosis. Circular RNAs (circRNAs), a subclass of regulatory RNAs, are implicated in the regulation of cancerous progression. This study aims to investigate the roles and underlying mechanism of circPIK3C2A in regulating proliferation and invasion of glioblastoma. qRT-PCR assays showed that the expression level of circPIK3C2A was aberrantly higher in glioblastoma cell lines, in comparison with that in normal glia cells. The ectopic expression of circPIK3C2A promoted the proliferation, invasion and clonal formation of glioblastoma cells, while circPIK3C2A loss-of-function exerted exactly the opposite biological effects on the cells. The construction of subcutaneous xenograft tumor model in nude mice indicated that circPIK3C2A loss-of-function effectively diminished tumor load in vivo and prolonged the survival time of tumor-bearing animals. Luciferase reporter assay confirmed the interaction among circPIK3C2A/miR-877-5p and FOXM1. CircPIK3C2A function as competitive endogenous RNA via sponging miR-877-5p through certain binding sites, thereby modulating the expression of FOXM1. Our results collectively indicate that circPIK3C2A functions as ceRNA by mediating miR-877-5p/FOXM1 axis, providing a novel perspective of applying CircPIK3C2A in the clinical intervention of glioblastoma in the future.

PMID:35004326 | PMC:PMC8739489 | DOI:10.3389/fonc.2021.801776
Primary Testicular Lymphoma with Central Nervous System Relapse Was Successfully Treated by a Chemo-Free Regimen: A Case Report and Literature Review

Fetched: January 11th, 2022, 5:01am GMT by Zheng Yan

Cancer Manag Res. 2021 Dec 31;13:9489-9500. doi: 10.2147/CMAR.S341342. eCollection 2021.

ABSTRACT

Primary testicular lymphoma (PTL) is a rare malignancy of testis. Although the multimodality treatment (including orchiectomy, systemic chemotherapy, scrotal radiotherapy, and preventive central nervous system (CNS)-targeted treatment) is widely used to treat PTL, recurrence, especially CNS recurrence, occurred frequently. Patients with relapsed PTL have a dismal prognosis and limited treatment options. In this report, we described the case of a 63-year-old man with early-stage PTL. The patient received the multimodality treatment, but CNS relapse occurred 3 months following the front-line therapy. We gave him a combined chemo-free regimen treatment, including rituximab, ibrutinib, and lenalidomide (RIL), based on the tumor's gene mutation profile and the patient's preference. A complete response was achieved after the first cycle of treatment. Whole-brain radiotherapy was delivered as consolidative treatment following three more cycles of RIL. Thereafter, ibrutinib and lenalidomide continued as maintenance treatment. As of the submission of this manuscript, the response has lasted for more than 16 months. Based on the case, we believe chemo-free regimen RIL might be a favorable approach for PTL patients with CNS relapse, especially those frail elderly patients, when alternative treatments are not available.

PMID:35002326 | PMC:PMC8725687 | DOI:10.2147/CMAR.S341342
The E3 Ubiquitin Ligase TRAF6 Interacts with the Cellular Prion Protein and Modulates Its Solubility and Recruitment to Cytoplasmic p62/SQSTM1-Positive Aggresome-Like Structures

Fetched: January 10th, 2022, 5:01am GMT by Lara Masperone

Mol Neurobiol. 2022 Jan 9. doi: 10.1007/s12035-021-02666-6. Online ahead of print.

ABSTRACT

The cellular prion protein (PrP^C) is a ubiquitous glycoprotein highly expressed in the brain where it is involved in neurite outgrowth, copper homeostasis, NMDA receptor regulation, cell adhesion, and cell signaling. Conformational conversion of PrP^C into its insoluble and aggregation-prone scrapie form (PrP^Sc) is the trigger for several rare devastating neurodegenerative disorders, collectively referred to as prion diseases. Recent work indicates that the ubiquitin-proteasome system is involved in quality control of PrP^C. To better dissect the role of ubiquitination in PrP^C physiology, we focused on the E3 RING ubiquitin ligase tumor necrosis factor receptor (TNFR)-associated factor 6 (TRAF6). Here, we report that PrP^C interacts with TRAF6 both in vitro, in cells, and in vivo, in the mouse brain. Transient overexpression of TRAF6 indirectly modulates PrP^C ubiquitination and triggers redistribution of PrP^C into the insoluble fraction. Importantly, in the presence of wild-type TRAF6, but not a mutant lacking E3 ligase activity, PrP^C accumulates into cytoplasmic aggresome-like inclusions containing TRAF6 and p62/SQSTM1. Our results suggest that TRAF6 ligase activity could exert a role in the regulation of PrP^C redistribution in cells under physiological conditions. This novel interaction may uncover possible mechanisms of cell clearance/reorganization in prion diseases.

PMID:35000151 | DOI:10.1007/s12035-021-02666-6
Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors

Fetched: January 10th, 2022, 5:01am GMT by Eita Uchida

Brain Tumor Pathol. 2022 Jan 9. doi: 10.1007/s10014-021-00421-2. Online ahead of print.

ABSTRACT

Pineal parenchymal tumors (PPTs) are clinically rare and a biopsy is often required for a definitive diagnosis. To improve the accuracy of histological assessment of PPTs, we examined the proliferative capacity of PPT cells and investigated DICER1 expression and KBTBD4 mutations. This study included 19 cases of PPTs [3 pineocytomas (PCs), 10 PPTs of intermediate differentiation (PPTID), and 6 pineoblastomas (PBs)]. Immunohistochemistry for Ki-67, PHH3, and DICER1, as well as Sanger sequencing analysis for KBTBD4 mutations, was performed using formalin-fixed paraffin-embedded tissue specimens that were resected during surgery. Tumor cell proliferation was quantified using an image analysis software. For the PHH3 and MIB-1 indices, a significant difference was observed between the PPTIDs and PBs (P < 0.05). Loss of DICER1 was not specific for PB; 0/3 PCs (0.0%), 2/9 PPTIDs (22.2%), and 2/4 PBs (50.0%). KBTBD4 mutations were detected in 1/3 PCs (33.3%), 6/9 PPTIDs (66.7%), and 0/4 PBs (0.0%). Thus, combined application of the proliferative marker index and KBTBD4 mutation analysis may be useful for the differential diagnosis of PPTs. Furthermore, detection of KBTBD4 mutations using Sanger sequencing analysis may support the diagnosis of PPTID.

PMID:35000018 | DOI:10.1007/s10014-021-00421-2
Metastases in the Pineal Region: A Systematic Review of Clinical Features, Management Strategies, and Survival Outcomes

Fetched: January 10th, 2022, 5:01am GMT by Paolo Palmisciano

World Neurosurg. 2022 Jan 6:S1878-8750(22)00008-0. doi: 10.1016/j.wneu.2022.01.005. Online ahead of print.

ABSTRACT

BACKGROUND: Pineal region metastases are rare but often cause severe neurological deficits. Surgical resection and chemoradiotherapy can provide therapeutic benefit. We investigated the literature to analyze clinical characteristics, management strategies, and survival of adult patients with pineal region metastases.

METHODS: PubMed, EMBASE, Scopus, and Cochrane were searched following the PRISMA guidelines, including studies reporting clinical outcomes of patients with pineal region metastases. Clinical presentation, management, and survival were reviewed.

RESULTS: We included 31 studies comprising 47 patients. Lung cancer (29.8%) and carcinomas-of-unknown-origin (14.9%) were the most frequent primary tumors. In 48.9% patients, symptomatic pineal metastases preceded primary tumor diagnosis. Headache (67.4%) and confusion (46.5%) were the most common symptoms. Parinaud's syndrome (46.5%) and hydrocephalus (87.2%) were noted. Biopsy (65.9%) was preferred over resection (34.1%), while utilized shunting strategies were endoscopic third ventriculostomy (43.9%) and ventriculoperitoneal (26.8%). Eleven patients (32.3%) received adjuvant chemotherapy and 32 (68%) received radiotherapy. Post-treatment improvement in symptoms (56.6%) and hydrocephalus (80.5%) were noted. In patients who received adjuvant chemotherapy/radiotherapy, significant improvement in post-treatment performance status occurred with both biopsy (P<0.001) and resection (P=0.007). No survival differences were reported between surgery and biopsy (P=0.912), nor between complete and partial resection (P=0.220). Overall survival was neither influenced by surgical approach (P=0.157), nor by shunting strategy (P=0.822). Mean follow-up was 8 months, and median overall survival 3 months. Only two cases (4.8%) of pineal metastasis demonstrated recurrence.

CONCLUSION: Pineal region metastases carry significant morbidity. Biopsy or surgical resection, combined with adjuvant chemotherapy/radiotherapy and/or shunting, may significantly improve performance status.

PMID:34999267 | DOI:10.1016/j.wneu.2022.01.005
Surgical Resection of Dorsal Spinal Meningiomas with the Inner Dura Layer - an Improved Preservation Technique of Spinal Dura in 40 Cases

Fetched: January 10th, 2022, 5:01am GMT by Xiaoxiong Wang

World Neurosurg. 2022 Jan 5:S1878-8750(22)00001-8. doi: 10.1016/j.wneu.2021.12.118. Online ahead of print.

ABSTRACT

BACKGROUND: Spinal meningiomas are the common benign tumors in intradural extramedullary spinal tumors. Simpson grade I resection is recommended to avoid tumor recurrence. However, the dura reconstruction increases a risk of cerebrospinal fluid leakage after this surgical resection. To address this concern, the inner dura layer resection and the long-term surgical outcomes of this technique were designed and examined after total tumor resection to preserve the outer dura layer.

METHODS: This study included 40 spinal meningioma patients undergoing the outer dura layer resection between 2002 and 2019. Clinical characteristics, radiological features, pre- and post-operative functional states, tumor recurrence and perioperative complications were described and evaluated.

RESULTS: A total of 40 spinal meningioma cases with the median age of 63 years (36-81 years) are enrolled in this study. The median postoperative follow-up period of all 40 cases is 96 months (34-193 months). About 82.5% of cases are located in the thoracic spine, while 16.5% of cases are located in the cervical spine. Of the symptomatic cases, 87.5% of cases follow with satisfactory outcomes, 12.5% of cases follow with unexpected outcomes. The local spinal meningioma recurrence rate was 2.5% (1 of 40 cases). None postoperative cerebrospinal fluid leak occurs in all 40 spinal meningioma cases.

CONCLUSION: A long-term of postoperative follow-up indicated this modified spinal dura preservation technique causes the good neurological improvement with rare recurrence. Therefore, we recommend this improved technique may be an alternative surgical option for total resection of spinal meningiomas with favorable prognosis.

PMID:34999010 | DOI:10.1016/j.wneu.2021.12.118
Pulmonary Tumor Embolism Microangiopathy: A Cause of Respiratory Failure in Advanced Malignancy

Fetched: January 8th, 2022, 5:01am GMT by Khurram Anwar

S D Med. 2021 Oct;74(10):463-466.

ABSTRACT

INTRODUCTION: Etiologies of acute respiratory failure in breast cancer patients are diverse (acute respiratory distress syndrome, acute interstitial pneumonia, pulmonary fibrosis, radiation pneumonitis, malignant infiltration). Pulmonary tumor embolism microangiopathy (PTEM) is a rare complication of advanced cancer that often presents as respiratory failure, pulmonary hypertension, right heart failure, and sudden death. Breast cancer is the most common primary cause of PTEM. It takes an aggressive course and presents with a challenge to diagnose and eventually manage. Here, we present the case of PTEM in a woman with advanced breast cancer.

CASE SUMMARY: A 53-year-old female presented to the emergency department with shortness of breath. Her past medical history was significant for HER-2 positive breast cancer with metastatic lesions in the brain, spine, and liver. In the emergency department (ED), the patient was tachycardic, tachypneic, hypoxic, hypotensive and hyperthermic. Laboratory results showed anemia, severe thrombocytopenia, alkalemia, hypoxia with decreased levels of arterial oxygen tension, decreased arterial carbon dioxide with a compensatory metabolic acidosis as well as grossly elevated transaminases, elevated D-Dimer, and multiple inflammatory markers. CT angiography and echocardiogram were performed but they failed to establish a definite diagnosis. The patient was admitted to the intensive care unit due to progressive acute hypoxic respiratory failure despite being tested negative for pulmonary embolism. Despite resuscitative measures with intravenous diuretics, multiple transfusions as well as antibiotics, she remained tachypneic with respiratory rate of 40/min and oxygen saturation between 70-80 percent. She passed away a few hours later. No autopsy was performed.

CONCLUSION: We recommend that if a patient with established malignancy presents with deteriorating lung function whereby there is evidence of progressive dyspnea and consolidation on radiographs, empirical antimicrobial treatment has failed to show improvement and thromboembolism has been ruled out, PTEM should be considered for early diagnosis.

PMID:34995427
Multifocal spinal glioblastoma and leptomeningeal carcinomatosis in an elderly male with hydrocephalus and myelopathy

Fetched: January 8th, 2022, 5:01am GMT by George W Koutsouras

Surg Neurol Int. 2021 Dec 8;12:595. doi: 10.25259/SNI_985_2021. eCollection 2021.

ABSTRACT

BACKGROUND: Primary spinal glioblastoma multiforme with multifocal leptomeningeal enhancement is rarely diagnosed or documented. We describe a rare case of multifocal spinal isocitrate dehydrogenase (IDH) wild type glioblastoma with leptomeningeal carcinomatosis in an elderly male presenting with a chronic subdural hematoma, progressive myelopathy, and communicating hydrocephalus.

CASE DESCRIPTION: A 77-year-old male with a medical history of an acoustic schwannoma, anterior cranial fossa meningioma, and immune thrombocytopenic purpura presented with right-sided weakness after repeated falls. Magnetic resonance imaging of the brain and spine demonstrated a left-sided subdural hematoma, leptomeningeal enhancement of the brain and skull base, ventricles, and the cranial nerves, and along with florid enhancement of the leptomeninges from the cervicomedullary junction to the cauda equina. Most pertinent was focal thickening of the leptomeninges at T1 and T6 with mass effect on the spinal cord. A T6 laminectomy with excisional biopsy of the lesion was planned and completed. Findings were significant for glioblastoma the World Health Organization Grade IV IDH 1 wild type of the thoracic spinal cord. Subsequently, his mental status declined, and he developed progressive hydrocephalus which required cerebrospinal fluid diversion. Unfortunately, the patient had minimal improvement in his neurological exam and unfortunately died 2 months later.

CONCLUSION: In a review of the limited literature describing similar cases of primary spinal glioblastoma, the prognosis of this aggressive tumor remains unfavorable, despite aggressive treatment options. The purpose of this report is to increase awareness of this rare condition as a potential differential diagnosis in patients presenting with multifocal invasive spinal lesions.

PMID:34992912 | PMC:PMC8720450 | DOI:10.25259/SNI_985_2021
$Permalink for 'Malignant ossifying fibromyxoid tumor of the brain treated with post-operative fractionated stereotactic radiation therapy: A case report and literature review'$
Malignant ossifying fibromyxoid tumor of the brain treated with post-operative fractionated stereotactic radiation therapy: A case report and literature review

Fetched: January 8th, 2022, 5:01am GMT by Sasha Beyer

Surg Neurol Int. 2021 Nov 30;12:588. doi: 10.25259/SNI_827_2021. eCollection 2021.

ABSTRACT

BACKGROUND: Ossifying fibromyxoid tumor (OFMT) is a rare musculoskeletal soft-tissue neoplasm of uncertain histogenesis most frequently occurring in the lower extremities. Conventionally, considered benign, these tumors are often managed by surgical resection followed by surveillance. However, malignant OFMTs with an increased propensity for local recurrence and distant metastasis have been recently identified, and the role of adjuvant therapy in these more aggressive cases is unclear.

CASE DESCRIPTION: We present, to the best of our knowledge, the first reported case of a primary, malignant, and intracranial OFMT. A 29-year-old female presented with recurrent headaches secondary to a large mass in her right frontal lobe. She underwent gross total resection of the brain mass with final pathology consistent with malignant OFMT demonstrating high-risk features including increased cellularity, grade, and mitotic activity. Due to these high-risk features, she received postoperative fractionated stereotactic radiation therapy (FSRT) to the resection cavity, and to the best of our knowledge, she represents the only known patient with OFMT to be treated with adjuvant FSRT. She tolerated the adjuvant treatment well with no acute or late toxicities and remains disease-free over 5 ½ years after resection.

CONCLUSION: Adjuvant FSRT appears to be a safe and efficacious approach for managing this rare intracranial disease presentation. We review this patient's clinical course in the context of the literature to demonstrate the difficulties associated with accurate diagnosis of this rare tumor and the controversial role of adjuvant therapy in preventing disease recurrence in this patient population.

PMID:34992905 | PMC:PMC8720422 | DOI:10.25259/SNI_827_2021
Subacute neurological deficits and respiratory insufficiency due to intrathecal methotrexate

Fetched: January 7th, 2022, 5:01am GMT by Sjoerd I P J de Faber

J Clin Transl Res. 2021 Nov 29;7(6):809-810. eCollection 2021 Dec 28.

ABSTRACT

BACKGROUND AND AIM: We present a case of a 22-year-old male diagnosed with B-cell acute lymphoblastic leukemia who received intrathecal (IT) methotrexate (MTX) in addition to his systemic chemotherapy regime. During induction treatment, he presented with a rapidly progressive bilateral paresis, anarthria, and respiratory insufficiency requiring intubation. The brain magnetic resonance imaging showed bilateral lesions with diffusion restriction of the corona radiata/centrum semi-ovale without other abnormalities. He recovered spontaneously without neurological sequelae. The clinical course combined with the radiological findings is suspect for an IT-MTX-induced leukoencephalopathy.

RELEVANCE FOR PATIENTS: Although neurological deficits after IT-MTX are rare and in most cases self-limiting, it should be recognized as a cause for rapid neurological decline after excluding other causes.

PMID:34988333 | PMC:PMC8717579
Brain Metastasis in a Young Patient: Consider the Rectum

Fetched: January 7th, 2022, 5:01am GMT by Abdullah S Shaikh

Cureus. 2021 Nov 30;13(11):e20055. doi: 10.7759/cureus.20055. eCollection 2021 Nov.

ABSTRACT

Approximately 20% of patients with newly diagnosed colorectal cancer present with distant metastatic disease. Brain metastasis from colorectal cancer is uncommon and usually associated with metachronous metastases in other organs. We describe a rare case of a 49-year-old patient presenting with headaches and left-sided weakness found to have a solitary brain metastasis from primary rectal cancer. Primary rectal cancer, young age, lung and liver metastases, and KRAS mutation are risk factors associated with brain metastases in patients with colorectal cancer. Intracranial imaging should be considered as part of the workup in the staging of colorectal cancer in patients who are at high risk of brain metastasis.

PMID:34987931 | PMC:PMC8718300 | DOI:10.7759/cureus.20055
The clinical characteristics and outcomes of incidentally discovered glioblastoma

Fetched: January 6th, 2022, 5:01am GMT by Daisuke Kawauchi

J Neurooncol. 2022 Jan 5. doi: 10.1007/s11060-021-03931-3. Online ahead of print.

ABSTRACT

OBJECTIVE: With an increase in the number of imaging examinations and the development of imaging technology, a small number of glioblastomas (GBMs) are identified by incidental radiological images. These incidentally discovered glioblastomas (iGBMs) are rare, and their clinical features are not well understood. Here, we investigated the clinical characteristics and outcomes of iGBM.

METHODS: Data of newly diagnosed iGBM patients who were treated at our institution between August 2005 and October 2019 were reviewed. An iGBM was defined as a GBM without a focal sign, discovered on radiological images obtained for reasons unrelated to the tumor. Kaplan-Meier analysis was performed to calculate progression-free survival (PFS) and overall survival (OS).

RESULTS: Of 315 patients with newly diagnosed GBM, four (1.3%) were classified as having iGBM. Health screening was the most common reason for tumor discovery (75.0%). The preoperative Karnofsky performance status score was 100 in three patients. Tumors were found on the right side in three cases. The mean volume of preoperative enhanced tumor lesion was 16.8 cm³. The median duration from confirmation of an enhanced lesion to surgery was 13.5 days. In all cases, either total (100%) or subtotal (95-99%) resections were achieved. The median PFS and OS were 10.5 and 20.0 months, respectively.

CONCLUSIONS: The iGBMs were often small and in the right non-eloquent area, and the patients had good performance status. We found that timely therapeutic intervention provided iGBM patients with favorable outcomes. This report suggests that early detection of GBM may lead to a better prognosis.

PMID:34985720 | DOI:10.1007/s11060-021-03931-3
Tectal Rosette-Forming Glioneuronal Tumor - A Case Report Focusing on a Possible Role for Radiotherapy in Inoperable Tumors

Fetched: January 6th, 2022, 5:01am GMT by Aruna Nambirajan

Neurol India. 2021 Nov-Dec;69(6):1808-1812. doi: 10.4103/0028-3886.333466.

ABSTRACT

BACKGROUND: Rosette-forming glioneuronal tumor (RGNT) is a rare and distinctive glioneuronal tumor. Although surgical excision is considered the standard treatment for these slow growing WHO Grade I tumors, gross-total resection is achieved in less than 50% of RGNTs due to its localisation amidst vital structures. With very few cases with long term follow-up reported, there is limited knowledge of the natural clinical course and the role of radiotherapy in inoperable RGNTs.

CASE DESCRIPTION: A previously well 26-year old male, presented with long standing headache, increasing gait instability and fainting episodes. Imaging revealed a tectal plate mass with hydrocephalous. An endoscopic third ventriculostomy and biopsy was done, revealing RGNT. He received radiotherapy with a curative intent. The patient remained neurologically stable for 4 years. Follow-up imaging done after 4 years showed decrease in tumor size.

CONCLUSIONS: The current case highlights a role for radiotherapy in RGNTs occurring in surgically challenging sites.

PMID:34979695 | DOI:10.4103/0028-3886.333466
Surgical management and clinical outcomes of cerebellar liponeurocytomas-a report of seven cases and a pooled analysis of individual patient data

Fetched: January 5th, 2022, 5:00am GMT by Pengcheng Zuo

Neurosurg Rev. 2022 Jan 4. doi: 10.1007/s10143-021-01728-6. Online ahead of print.

ABSTRACT

Cerebellar liponeurocytomas (CLPNs) are very rare, with very few studies on this disease. Their treatment protocol also remains unclear. To better understand the disease, we reviewed the clinical features and outcomes, and proposed a treatment protocol based on previously reported cases as well as cases from our institute. The clinical data were obtained from seven patients with pathologically confirmed CLPNs, who underwent surgical treatment at our institute between November 2011 and June 2021. We also reviewed the relevant literature and 75 patients with CLPNs were identified between September 1993 and June 2021. Risk factors for progression-free survival (PFS) were evaluated in the pooled cohort. Our cohort included four males and three females, with a mean age of 43.9 ± 14.5 years (range: 29-64 years). CLPNs were located in the lateral ventricle in three cases and in the cerebellum in four cases. All seven cases achieved gross total resection (GTR) and radiotherapy was administered to two cases. After a mean follow-up of 44.9 ± 44.4 months, all patients remained well, with no recurrence or death. Among the 75 patients reported in the literature, 35 were males and 40 were females, with a mean age of 46.2 ± 13.6 years (range: 6-77 years). Biopsy, GTR, and non-GTR were achieved in one (1.3%), 50 (66.7%), and 24 (32%) patients, respectively. Radiotherapy was administered to 16 cases and chemotherapy was administered to only one case. After a mean follow-up of 47.5 ± 51.5 months, three patients died and tumor recurrence occurred in 17 patients. Multivariate Cox analysis revealed that non-GTR predicted a poor PFS (p = 0.020), and postoperative radiotherapy could not prolong PFS (p = 0.708). Kaplan-Meier analysis also showed that GTR was significantly associated with longer PFS (p = 0.008), and postoperative radiotherapy could not prolong PFS (p = 0.707). PFS rates at 1, 5, 10 years were 92.7%, 78.0%, 23.8% respectively. CLPNs are very rare brain tumors. Although they have favorable clinical prognosis, the recurrence is relatively high. GTR should be the first choice for treatment and close follow-up is necessary. Postoperative radiotherapy could not improve PFS in this study. A larger cohort is needed to verify our findings.

PMID:34982306 | DOI:10.1007/s10143-021-01728-6
Clinicopathologic and Genetic Features of Primary T-cell Lymphomas of the Central Nervous System: An Analysis of 11 Cases Using Targeted Gene Sequencing

Fetched: January 5th, 2022, 5:00am GMT by Jeemin Yim

Am J Surg Pathol. 2022 Jan 4. doi: 10.1097/PAS.0000000000001859. Online ahead of print.

ABSTRACT

Primary central nervous system lymphoma (PCNSL) of peripheral T-cell lineage (T-PCNSL) is rare, and its genetic and clinicopathologic features remain unclear. Here, we present 11 cases of T-PCNSL in immunocompetent individuals from a single institute, focusing on their genetic alterations. Seven cases were subject to targeted panel sequencing covering 120 lymphoma-related genes. Nine of the eleven cases were classified as peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), of which one was of γδT-cell lineage. There was one case of anaplastic lymphoma kinase-positive anaplastic large cell lymphoma and another of extranodal natural killer (NK)/T-cell lymphoma (ENKTL) of αβT-cell lineage. The male to female ratio was 7 : 4 and the age ranged from 3 to 75 years (median, 61 y). Most patients presented with neurological deficits (n=10) and showed multifocal lesions (n=9) and deep brain structure involvement (n=9). Tumor cells were mostly small-to-medium, and T-cell monoclonality was detected in all nine evaluated cases. PTCL-NOS was CD4-positive (n=4), CD8-positive (n=3), mixed CD4-positive and CD8-positive (n=1), or CD4/CD8-double-negative (n=1, γδT-cell type). Cytotoxic molecule expression was observed in 4 (67%) of the 6 evaluated cases. Pathogenic alterations were found in 4 patients: one PTCL-NOS case had a frameshift mutation in KMT2C, another PTCL-NOS case harbored a truncating mutation in TET2, and another (γδT-cell-PTCL-NOS) harbored NRAS G12S and JAK3 M511I mutations, and homozygous deletions of CDKN2A and CDKN2B. The ENKTL (αβT-cell lineage) case harbored mutations in genes ARID1B, FAS, TP53, BCOR, KMT2C, POT1, and PRDM1. In conclusion, most of the T-PCNSL were PTCL-NOS, but sporadic cases of other subtypes including γδT-cell lymphoma, anaplastic lymphoma kinase-positive anaplastic large cell lymphoma, and ENKTL were also encountered. Immunophenotypic analysis, clonality test, and targeted gene sequencing along with clinicoradiologic evaluation, may be helpful for establishing the diagnosis of T-PCNSL. Moreover, this study demonstrates genetic alterations with potential diagnostic and therapeutic utility in T-PCNSL.

PMID:34980830 | DOI:10.1097/PAS.0000000000001859
Successful treatment of pituitary gigantism

Fetched: January 5th, 2022, 5:00am GMT by Clara Cunha

BMJ Case Rep. 2021 Dec 31;14(12):e247989. doi: 10.1136/bcr-2021-247989.

ABSTRACT

Pituitary gigantism is extremely rare, resulting from excessive secretion of growth hormone (GH) before fusion of epiphysial growth plates. We report a case of a 13-year-old boy, who presented with increased statural growth and headaches since the age of 10 years. On physical examination, his height was 180.7 cm (+3.3 SD) and Tanner stage V. Investigation revealed increased levels of serum age-adjusted and sex-adjusted insulin-like growth factor 1 (IGF-1) and failure of GH suppression during an oral glucose tolerance test (OGTT). MRI of the sellar region revealed a pituitary macroadenoma. He underwent transsphenoidal surgery and histopathological evaluation revealed mammosomatotropic adenoma. Three months after surgery, IGF-1 normalised, nadir GH during OGTT was less than 1 ng/mL and no residual tumour was found on the MRI. Genetic testing identified a mutation in the AIP gene. This case emphasises the importance of early diagnosis of gigantism, as treatment delay increases long-term morbidity.

PMID:34972788 | PMC:PMC8720990 | DOI:10.1136/bcr-2021-247989
Colonic Metastasis from Breast Cancer: A Case Report and Review of the Literature

Fetched: January 5th, 2022, 5:00am GMT by Hiroyuki Inoue

In Vivo. 2022 Jan-Feb;36(1):522-527. doi: 10.21873/invivo.12733.

ABSTRACT

BACKGROUND: Breast cancer often metastasizes to the lungs, bones, liver, and brain, colon metastasis from breast cancer (CMBC) is extremely rare.

CASE REPORT: The patient was a 63-year-old female. Mastectomy had been performed for breast cancer (pStage IIB) 15 years earlier at another hospital. Metastasis to the lumbar spine had been detected 4 years prior to referral to us and the patient had undergone hormonal therapy with an aromatase inhibitor. Furthermore, early primary sigmoid colon cancer had been endoscopically resected 2 years before referral. The patient was diagnosed with cancer recurrence in the colon at follow-up examinations performed 2 years after that endoscopic resection. After referral to our hospital, laparoscopic sigmoidectomy was performed. Based on the histopathological examination and immunohistological staining results (positive for cytokeratin 7, GATA-binding protein 3, estrogen receptor and human epidermal growth factor receptor-related 2 (2+); negative for cytokeratin 20, progesterone receptor, E-cadherin, gross cystic disease fluid protein 15 and caudal-related homeobox 2) the final pathological diagnosis was CMBC.

CONCLUSION: Although extremely rare, the possibility of CMBC should be considered in the case of colonic tumors in patients with a history of breast cancer.

PMID:34972757 | DOI:10.21873/invivo.12733
Computed tomography and magnetic resonance imaging of an unusual intraconal orbital osteoma

Fetched: January 4th, 2022, 5:00am GMT by Juliana Albano de Guimarães

Orbit. 2022 Jan 3:1-4. doi: 10.1080/01676830.2021.2012206. Online ahead of print.

ABSTRACT

We report the case of a 64-year-old male patient with a 5 month history of proptosis, motility limitation and vision loss in OD. Visual acuity (VA) was 20/200 in OD and 20/20 in OS. CT showed a large, round, intraconal lesion, with bony density and no apparent connection to adjacent orbital walls. MRI showed a T1-weighted hypointense lesion surrounded by a contrast enhancing capsule. The orbital tumor was excised through a lateral orbitotomy revealing a nodular, round, osseous structure. Histological examination disclosed well-formed lamellar bone trabeculae, with no necrosis or mitosis figures. Immunohistochemical staining was negative for MDM2 and CDK4. After 3 years, there was no evidence of tumor recurrence and VA had improved to 20/30. Intraconal osteomas with no clear attachment to orbital walls are extremely rare. We are aware of a few reported cases in the lid, hand, thigh, tongue, pterygopalatine fossa and brain. To the authors' knowledge, this is the first report in English literature of an orbital intraconal osteoma without any visible relation to the orbital walls.

PMID:34974797 | DOI:10.1080/01676830.2021.2012206
Radiation induced contrast enhancement after proton beam therapy in patients with low grade glioma - how safe are protons?

Fetched: January 2nd, 2022, 5:00am GMT by Semi B Harrabi

Radiother Oncol. 2021 Dec 29;167:211-218. doi: 10.1016/j.radonc.2021.12.035. Online ahead of print.

ABSTRACT

PURPOSE: The optimal treatment strategy for low-grade glioma (LGG) is still a matter of controversy. Considering that the prognosis is typically favorable, the prevention of late sequelae is of particular importance. Proton beam therapy (PRT) has the potential to further reduce the burden of treatment related side effects. We set out to evaluate the clinical outcome of proton irradiation with a particular focus on morphologic features on magnetic resonance imaging (MRI).

METHODS: We assessed prospectively 110 patients who received radiotherapy with protons for histologically proven LGG. Clinical and radiological information were analyzed resulting in more than 1200 available MRI examinations with a median follow-up of 39 months. Newly diagnosed contrast-enhancing lesions on MRI were delineated and correlated with parameters of the corresponding treatment plan. A voxel-based dose-matched paired analysis of the linear energy transfer (LET) inside vs outside lesions was performed.

RESULTS: Proton beam irradiation of patients with low-grade glioma results in overall survival (OS) of 90% after seven years. Median progression free survival had not yet been reached with surviving fraction of 54% after seven years. The incidence of temporary or clinically silent radiation induced contrast enhancement was significantly higher than previously assumed, however, symptomatic radiation necrosis was only detected in one patient. These radiation-induced contrast-enhancing lesions were almost exclusively seen at the distal beam end of the proton beam. In 22 out of 23 patients, the average LET of voxels inside contrast-enhancing lesions was significantly increased, compared to dose-matched voxels outside the lesions.

CONCLUSION: Symptomatic radiation necrosis following PRT was as rare as conventional photon-based treatment series suggest. However, the increased incidence of asymptomatic radiation-induced brain injuries with an increased average LET observed in this cohort provides strong clinical evidence to support the hypothesis that the relative biological effectiveness of protons is variable and different to the fixed factor of 1.1 currently used worldwide.

PMID:34973277 | DOI:10.1016/j.radonc.2021.12.035
Immunotherapy for Neuro-oncology

Fetched: January 2nd, 2022, 5:00am GMT by Nazanin K Majd

Adv Exp Med Biol. 2021;1342:233-258. doi: 10.1007/978-3-030-79308-1_7.

ABSTRACT

Immunotherapy has changed the landscape of treatment of many solid and hematological malignancies and is at the forefront of cancer breakthroughs. Several circumstances unique to the central nervous system (CNS) such as limited space for an inflammatory response, difficulties with repeated sampling, corticosteroid use for management of cerebral edema, and immunosuppressive mechanisms within the tumor and brain parenchyma have posed challenges in clinical development of immunotherapy for intracranial tumors. Nonetheless, the success of immunotherapy in brain metastases (BMs) from solid cancers such as melanoma and non-small cell lung cancer (NSCLC) proves that the CNS is not an immune-privileged organ and is capable of initiating and regulating immune responses that lead to tumor control. However, the development of immunotherapeutics for the most malignant primary brain tumor, glioblastoma (GBM), has been challenging due to systemic and profound tumor-mediated immunosuppression unique to GBM, intratumoral and intertumoral heterogeneity, and lack of stably expressed clonal antigens. Here, we review recent advances in the field of immunotherapy for neuro-oncology with a focus on BM, GBM, and rare CNS cancers.

PMID:34972967 | DOI:10.1007/978-3-030-79308-1_7
Gamma Knife Radiosurgery in the Management of Hypothalamic Glioma: A Case Report with Long-term Follow-up

Fetched: December 31st, 2021, 5:00am GMT by Fareed Jumah

Pediatr Neurosurg. 2021 Dec 30. doi: 10.1159/000521732. Online ahead of print.

ABSTRACT

Background Optic pathway/hypothalamic gliomas are rare pediatric brain tumors. The management paradigm for these challenging tumors includes chemotherapy, radiotherapy, or surgical resection, but the optimal management strategy remains elusive. Gamma Knife radiosurgery (GKRS) has emerged as a promising treatment for such lesions as documented by a small number of cases in the literature. Case Presentation Herein, we present a rare case of hypothalamic glioma in a 13-year-old girl who was referred to our service due to growth of a an incidentally diagnosed hypothalamic lesion following head injury at the age of 8 years. The lesion demonstrated hypointensity on T1 and hyperintensity on T2 without enhancement. Given the growth of the lesion on serial imaging, a stereotactic biopsy was performed demonstrating low-grade glioma. The patient underwent GKRS treatment with a marginal dose of 15 Gy at 50% isodose line for a tumor volume of 2.2 ml. Annual radiological surveillance over the next 17 years demonstrated a gradual shrinkage of the lesion until it completely disappeared. The patient is currently a healthy 31-year-old female without any visual, endocrine, or neurocognitive complaints. Conclusion The outcome obtained after extended follow-up in our patient highlights the safety and efficacy of GKRS in the management of hypothalamic gliomas in pediatrics, which in turn can avoid potentially serious complications of surgery in this vulnerable patient population in this sensitive location.

PMID:34969032 | DOI:10.1159/000521732
Pneumocephalus after posterior fossa surgery in prone position: Is that any clinical effect?

Fetched: December 31st, 2021, 5:00am GMT by Ghassen Gader

Int J Surg Case Rep. 2022 Jan;90:106736. doi: 10.1016/j.ijscr.2021.106736. Epub 2021 Dec 28.

ABSTRACT

INTRODUCTION: The term pneumocephalus refers to the existence of air in any intracranial compartment. Its presence in the follows of a supratentorial craniotomy is very common, and it usually represents a benign complication as it is very rarely responsible for clinical manifestations.

CASE PRESENTATION: We report the case of a 24 years-old man, who underwent posterior fossa surgery in prone position for resection of a vermian tumor. Postoperative, the patient presented a tonic-clonic generalized seizure associated to high levels of arterial pressure and decerebration. Control CT scan showed an important pneumocephalus. On the posterior fossa, the air was responsible for a compression of the brainstem, without any other postoperative complications. Following 12 h of conservative management, a brain MRI showed a total regression of the pneumocephalus. 3 days later, the patient presented a favorable outcome as he was extubated without any major impairments.

DISCUSSION: Transformation of pneumocephalus into tension pneumocephalus responsible for clinical inadvertance is rare. This complication is mainly related to surgeries performed in sitting position. The occurrence of compressive pneumocephalus after a posterior fossa craniotomy performed in a prone position is seldom.

CONCLUSIONS: Through this case, we discuss pathophysiology and therapeutic approaches for tension pneumocephalus following posterior fossa performed in prone position.

PMID:34968981 | PMC:PMC8717224 | DOI:10.1016/j.ijscr.2021.106736
A Good Aesthetic Outcome After Gross Total Tumor Resection in Combination With the Skull Reconstruction on Giant Epidermal Cyst Involving Both Intracranial and Extracranial Tissues

Fetched: December 31st, 2021, 5:00am GMT by Yifeng Shi

J Craniofac Surg. 2022 Jan-Feb 01;33(1):276-278. doi: 10.1097/SCS.0000000000008119.

ABSTRACT

Epidermal or epidermoid cysts are 1 of the most frequent benign masses, they rarely grow to a huge size, and only a few cases have been reported. We report a rare case of a 52-year-old man with giant neoplasm growing invasively in the frontal region, including both intracranial and extracranial extensions, and caused extensive brain deformation and skull lesions. It is worth noting that the patient did not present any significant neurological symptoms and deficits for more than 40 years on admission. A combination of gross total tumor resection and cranioplasty was performed. The patient was satisfied with the results of the surgery, and no evidence of recurrence or complications were found in the 2 years follow-up. The authors reported the case not only to propose the first-stage aesthetic treatment option for this unusual mass on the scalp but also hinted at the vigilance and importance of systematic monitoring of the small skull mass for avoiding the potential risk of tumor progression, malignant transformation, operative trauma, and financial burden.

PMID:34967524 | DOI:10.1097/SCS.0000000000008119
$Permalink for 'Microsatellite instability-high is rare events in refractory pediatric solid tumors'$
Microsatellite instability-high is rare events in refractory pediatric solid tumors

Fetched: December 30th, 2021, 5:00am GMT by Taro Yoshida

Pediatr Hematol Oncol. 2021 Dec 29:1-7. doi: 10.1080/08880018.2021.1998266. Online ahead of print.

ABSTRACT

Microsatellite instability (MSI)-high status is associated with good responsiveness to immune checkpoint inhibitors. Although MSI-high status has been actively investigated in pediatric brain tumors, studies of other pediatric solid tumors are lacking. Among 334 consecutive pediatric patients with solid tumors, we retrospectively analyzed formalin-fixed paraffin-embedded tumor tissues of 36 of 74 patients (49%) who died of disease. We assessed the MSI status in these tissues using five multiplexed markers. The results revealed that none of the patients had an MSI-high status. These results indicate that MSI-high status is a rare event in pediatric patients with refractory/relapsed solid tumors.Supplemental data for this article is available online at [https:]

PMID:34964684 | DOI:10.1080/08880018.2021.1998266
Effectiveness of alectinib and osimertinib in a brain metastasized lung adenocarcinoma patient with concurrent EGFR mutations and DCTN1-ALK fusion

Fetched: December 30th, 2021, 5:00am GMT by Qiang Yin

Thorac Cancer. 2021 Dec 28. doi: 10.1111/1759-7714.14291. Online ahead of print.

ABSTRACT

The echinoderm microtubule associated protein-like 4 gene (EML4) encodes the predominant anaplastic lymphoma kinase (ALK) fusion partner in non-small-cell lung cancer (NSCLC); however, the dynactin subunit 1 (DCTN1)-ALK rearrangement is extremely rare. The co-occurrence of primary epidermal growth factor receptor (EGFR) T790M mutation with EGFR exon 19 deletion (del) in patients with NSCLC is uncommon. Here we report a female lung adenocarcinoma patient with brain metastases and possible coexistence of primary EGFR T790M mutation/EGFR exon 19 del/DCTN1-ALK translocation. The patient received multiline treatment including chemotherapy, antivascular, and targeted therapies. To overcome developed resistance to chemotherapy or targeted therapy to prolong overall survival, the patient's circulating tumor DNA (ctDNA) was dynamically monitored. The patient responded to successive osimertinib and alectinib treatment, and alectinib achieved a nearly complete response for lung and brain lesions after she acquired osimertinib resistance. Furthermore, we summarize 22 published cases of patients with lung adenocarcinoma with concurrent EGFR mutation and ALK rearrangement, including details of clinical characteristics, natural history, and pertinent therapy of this uncommon tumor subtype. This literature review shows that EGFR inhibition was an indispensable aspect of the treatment of patients with EGFR/ALK co-alterations in the pre-alectinib era and that ALK inhibition with crizotinib did not show more eye-catching therapeutic results. Considering the effectiveness achieved by alectinib, this case study provides a new perspective for the treatment of lung cancer brain metastasis patients with concurrent EGFR/ALK mutations.

PMID:34964276 | DOI:10.1111/1759-7714.14291
Cancer Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan

Fetched: December 29th, 2021, 5:01am GMT by Hiroko Fukushima

Oncology. 2021 Dec 27. doi: 10.1159/000521621. Online ahead of print.

ABSTRACT

Brain tumors affect one-third of all children with cancer. Approximately 10% of children with cancer carry variants in cancer predisposition genes. However, germline analyses in large cohorts of Asian children have not been reported. Thirty-eight Japanese patients with pediatric brain tumors were included in this study (19 boys, 19 girls). DNA was extracted from the patients' peripheral blood, and cancer-associated genes were analyzed using targeted resequencing. Rare variants with allele frequencies <0.1% in the general population and variants suspected to be pathogenic were extracted and analyzed. Pathogenic variants were found in 7 patients (18%): 2 nonsense variants of CHEK2 and FANCI; 2 frameshift deletions in SMARCB1 and PTCH1; and 3 missense variants of TSC1, WRN, and MLH1. The median age at diagnosis was 9.1 years, and three of the 7 patients had a family history of cancer. One patient diagnosed with basal cell nevus syndrome, also called Gorlin syndrome, developed a second neoplasm, and another with an SMARCB1 variant and an atypical teratoid/rhabdoid tumor developed a thyroid adenomatous nodule. This is the first cancer-related germline analysis with detailed clinical information reported in Japanese children with brain tumors. The prevalence was almost equivalent to that in white children.

PMID:34959239 | DOI:10.1159/000521621
Heart of the Matter: Syncope as a Rare Presentation of Lung Cancer Invading the Heart

Fetched: December 29th, 2021, 5:01am GMT by Saleh Al-Juburi

J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211053709. doi: 10.1177/23247096211053709.

ABSTRACT

Syncope is common, affecting approximately 1 million Americans every year. Although multiple pathophysiological mechanisms regarding its etiology have been documented, neurocardiogenic or vasovagal syncope is the most common cause of these episodes. Other less appreciated etiologies include various cardiac abnormalities in which a structural, electrical, or obstructive disturbance leads to a temporary reduction in blood flow to the brain, resulting in transient loss of consciousness. Cardiac malignancies, while rare, can present with syncope by either disrupting the cardiac conduction apparatus or simply obstructing blood flow through the cardiac chambers. Electrocardiograms and echocardiography are often very helpful in identifying these abnormalities. Here, we report a rare case of late-stage invasive squamous cell carcinoma of the lung presenting with recurrent syncopal events. The cancer invaded the cardiac right atrium causing various dysrhythmias, leading to a very rare cause of cardiogenic syncope. We also discuss how lung cancer can present in a subclinical manner and at times without obvious respiratory symptoms, dramatic physical examination abnormalities, and/or thoracic imaging abnormalities on chest radiograph.

PMID:34939449 | PMC:PMC8725212 | DOI:10.1177/23247096211053709
Management of an Unusual Central Nervous System Metastasis With Linear Accelerator Radiosurgery in a Low-Middle Income Country

Fetched: December 28th, 2021, 5:01am GMT by Martin Mosquera

Cureus. 2021 Nov 22;13(11):e19806. doi: 10.7759/cureus.19806. eCollection 2021 Nov.

ABSTRACT

Large cell neuroendocrine carcinoma, a type of non-small cell lung cancer, is quite rare and has been associated with brain metastasis, mainly to the cerebral hemispheres. However, the rate of cerebellar metastasis is underreported in the literature and appears to be quite rare. Despite the rarity of this metastasis, treatment guidelines for both supratentorial and cerebellar lesions have been established by using either radiosurgery or whole-brain radiation therapy. The choice of modality must take into consideration the vicinity of relevant structures such as the brainstem and its multiple nuclei. Here we report the case of a 68-year-old male, resident of a rural community in the Andean region of Ecuador, a low-middle income country; with the diagnosis of a large cell neuroendocrine carcinoma of the lung with dual central nervous system metastasis treated with linear particle accelerator radio-surgery due to its versatility and cost-effectiveness in a resource-limited setting. We showcase the rarity of the metastatic lesions as well as the utility of linear accelerators and their versatility to perform precise radiosurgical procedures in two simultaneous locations.

PMID:34956790 | PMC:PMC8693538 | DOI:10.7759/cureus.19806
Autobiographical Case Report of Experiences With Pleomorphic Xanthoastrocytoma

Fetched: December 28th, 2021, 5:01am GMT by Cherry Liu

Cureus. 2021 Nov 17;13(11):e19668. doi: 10.7759/cureus.19668. eCollection 2021 Nov.

ABSTRACT

Pleomorphic xanthoastrocytoma is a rare brain tumor of WHO grade II designation. This case report describes the author's experience with the discovery of the tumor, living with the tumor, and eventual treatment and aftermath of how it affected her life and her understanding of the medical system.

PMID:34956774 | PMC:PMC8675575 | DOI:10.7759/cureus.19668
Primary Leptomeningeal B-cell Lymphoma in an Immunocompetent Adult: Case Report

Fetched: December 28th, 2021, 5:01am GMT by Andrea Calderon-Castro

Cureus. 2021 Nov 16;13(11):e19619. doi: 10.7759/cureus.19619. eCollection 2021 Nov.

ABSTRACT

Primary leptomeningeal lymphoma (PLML) is a rare disease, comprising less than 1% of all lymphomas. Clinical manifestations include headache, encephalopathy, ataxia, cranial nerve palsy, and myelitis. Diagnosis requires a combination of magnetic resonance images (MRI), cytology, flow cytometry of cerebrospinal fluid (CSF), and an extensive workup to rule out systemic lymphoma. We describe the case of a 49-year-old man who developed subacute onset headache, encephalopathy, and blindness. Whole-body examinations, including a bone marrow trephine biopsy, excluded systemic lymphoma. Brain MRI showed leptomeningeal enhancement. Cytology and flow cytometry of CSF found a clonal B-cell population making a diagnosis of PLML. He began treatment with rituximab and high-dose methotrexate (HD-MTX), with progressive clinical improvement. CSF analysis after two cycles and one intrathecal methotrexate dose was normal. Brain and spinal MRI images plus CSF analysis, along with an extensive workup to exclude systemic lymphoma, are necessary to diagnose PLM. Early treatment with HD-MTX alone or in combination with rituximab improves clinical outcomes.

PMID:34956753 | PMC:PMC8674856 | DOI:10.7759/cureus.19619
Primary diffuse leptomeningeal atypical teratoid rhabdoid tumor (AT/RT) demonstrating atypical imaging findings in an adolescent patient

Fetched: December 25th, 2021, 5:00am GMT by Amiko Kayo

Radiol Case Rep. 2021 Dec 11;17(3):485-488. doi: 10.1016/j.radcr.2021.11.026. eCollection 2022 Mar.

ABSTRACT

Atypical teratoid rhabdoid tumor (AT/RT) is a highly malignant central nervous system embryonal tumor, which typically affects the posterior fossa of young children. Primary diffuse leptomeningeal AT/RT, affecting the leptomeninges without any intraparenchymal mass in the brain and spinal cord, is an extremely rare form of AT/RT. Only 5 such cases have been reported previously, none of which underwent Fluorine-18-Fluorodeoxyglucose Positron Emission Tomography (FDG-PET). We herein report a case of primary leptomeningeal AT/RT in an adolescent patient who underwent computed tomography, magnetic resonance imaging and FDG-PET. The computed tomography and magnetic resonance imaging indicated diffusely thickened leptomeninges without any intraparenchymal masses in the head and spine. Furthermore, there were multiple nodules on the thickened leptomeninges. On FDG-PET, the thickened leptomeninges and nodules demonstrated a lower standardized uptake value than that of the normal cerebral cortex. Biopsy and histopathological studies confirmed the diagnosis of AT/RT. Despite its rare occurrence, it is important to recognize primary diffuse leptomeningeal AT/RT for correct diagnosis and management of patients.

PMID:34950279 | PMC:PMC8671802 | DOI:10.1016/j.radcr.2021.11.026
Giant High-Grade Immature Teratoma of the Central Nervous System (CNS) in an Infant: A Case Report

Fetched: December 25th, 2021, 5:00am GMT by Ali Riazi

Am J Case Rep. 2021 Dec 24;22:e932752. doi: 10.12659/AJCR.932752.

ABSTRACT

BACKGROUND The central nervous system (CNS) is a rare point of origin for mature or immature teratomas. However, immature teratomas are extremely rare. CNS teratomas have been known for poor patient prognosis and recovery and also reduce survival. However, chemoradiotherapy has been reported to increase patient survival. CASE REPORT This study presents a rare giant immature teratoma invading a newborn infant's brain tissue and CNS. The tumor was surgically removed, and in a further 1-year follow-up, it did not need chemotherapy or radiotherapy according to alpha-fetoprotein (aFP) level and other serum markers. The teratoma had affected multiple loci of his brain's left hemisphere, including parietal, frontal, temporal, and occipital lobes. A teratoma was diagnosed lateral to the midline, which is not common in CNS teratomas, as they mainly occur in or near the midline. The tumor was excised completely. The patient was followed up for 1 year, and no further recurrence was observed. CONCLUSIONS Early diagnosis and treatment of immature teratomas are essential in patient prognosis. Chemotherapy is not always needed, but complete surgical removal and patient follow-up are always a necessity. In addition, adequate follow-up of these patients is critical to evaluate their further treatment plan and recurrence risk.

PMID:34949754 | DOI:10.12659/AJCR.932752
Brain Metastases from Adult Sarcomas: A Retrospective Cohort Study from the Hellenic Group of Sarcomas and Rare Cancers (HGSRC)

Fetched: December 25th, 2021, 5:00am GMT by Stefania Kokkali

J Clin Med. 2021 Dec 20;10(24):5978. doi: 10.3390/jcm10245978.

ABSTRACT

Brain metastases are rare events in patients with sarcoma and the available information is relatively limited. We retrospectively reviewed medical records of patients with sarcoma who developed brain metastases between April 2010 and April 2020 in six centers. Thirty-four adult patients were included with a median age at brain metastases diagnosis of 55.5 years (range, 18-75). The primary sarcomas originated either from soft tissue (n = 27) or bone (n = 7) and the most common subtypes were leiomyosarcoma (n = 8), Ewing sarcoma/peripheral neuroectodermal tumor (PNET) (n = 7) and osteosarcoma (n = 3). Most primary tumors were of high grade and located mainly in the extremities (n = 18). The vast majority of patients at the time of brain metastasis diagnosis already had extracranial metastatic disease (n = 26). The median time from sarcoma diagnosis to cerebral metastasis diagnosis was 16 months (range, 1-136). Treatment modalities for brain metastatic disease included whole-brain radiation therapy (WBRT) (n = 22), chemotherapy (n = 17), exclusive palliative care (n = 5), surgery (n = 9), targeted therapy (n = 6) or stereotactic radiosurgery (n = 2). Most patients experienced a progression of brain metastases (n = 11). The median overall survival from brain metastasis diagnosis was 3 months (range, 0-80). OS was significantly influenced by time-to-brain metastases (p = 0.041), WBRT (p = 0.018), surgery (p = 0.002) and chemotherapy (p = 0.006). In a multivariate analysis, only the localization of the primary (p = 0.047) and WBRT (p = 0.038) were associated with survival with statistical significance. Patients with sarcoma brain metastases have a particularly poor prognosis and an appropriate therapeutic approach is yet to be defined.

PMID:34945275 | PMC:PMC8704580 | DOI:10.3390/jcm10245978
Pediatric versus Adult Medulloblastoma: Towards a Definition That Goes beyond Age

Fetched: December 25th, 2021, 5:00am GMT by Joseph R Wooley

Cancers (Basel). 2021 Dec 16;13(24):6313. doi: 10.3390/cancers13246313.

ABSTRACT

Medulloblastoma is a rare malignant brain tumor that predominantly affects children but also occurs in adults. The incidence declines significantly after age 15, and distinct tumor molecular features are seen across the age spectrum. Standard of care treatment consists of maximal safe surgical resection followed by adjuvant radiation and/or chemotherapy. Adjuvant treatment decisions are based on individual patient risk factors and have been informed by decades of prospective clinical trials. These trials have historically relied on arbitrary age cutoffs for inclusion (age 16, 18, or 21, for example), while trials that include adult patients or stratify patients by molecular features of disease have been rare. The aim of this literature review is to review the history of clinical trials in medulloblastoma, with an emphasis on selection criteria, and argue in favor of rational and inclusive trials based on molecular features of disease as opposed to chronological age. We performed a scoping literature review for medulloblastoma and clinical trials and include a summary of those results. We also discuss some of the significant advances made in understanding the molecular biology of medulloblastoma within the past decade, most notably the identification of four distinct subgroups based on gene expression profiling. We will also cite the recent experiences of childhood leukemia and the emergence of tissue-agnostic therapies as examples of successes of rationally designed, inclusive trials translating to improved clinical outcomes for patients across the age spectrum. Despite the prior trial history and recent molecular advances outcomes remain poor for ~30% of medulloblastoma patients. We believe that defining patients by the specific molecular alterations their tumors harbor is the best way to ensure they can access potentially efficacious therapies on clinical trials.

PMID:34944933 | PMC:PMC8699201 | DOI:10.3390/cancers13246313
Bilateral aneurysms, one of which is embedded in a meningioma: a rare case report and literature review

Fetched: December 24th, 2021, 5:01am GMT by Chang Ding

Br J Neurosurg. 2021 Dec 23:1-6. doi: 10.1080/02688697.2021.2020213. Online ahead of print.

ABSTRACT

BACKGROUND: Although the coexistence of primary brain neoplasms with intracranial aneurysms is rare, this phenomenon has become more recognized. Meningioma is the most frequently occurring type of tumor associated with an aneurysm. However, meningiomas encasing aneurysms are extremely rare, posing a diagnostic and therapeutic challenge to healthcare providers.

CASE DESCRIPTION: We report a case of a 46-year-old female patient admitted to our hospital with headache and dizziness for ten years. Enhanced magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) indicated a mass in the right sphenoid ridge, surrounding a posterior communicating artery aneurysm of the right internal carotid artery. Digital subtraction angiography (DSA) revealed left ophthalmic segment aneurysm and right posterior communicating artery aneurysm. We first clipped the aneurysm and then removed intracranial tumor during the same operation. The postoperative pathological diagnosis of tumor was meningioma (World Health Organization grade I). The patient's postoperative course was uneventful, with only a mild reduction in lateral vision of both eyes.

CONCLUSIONS: We reported a rare case in which an intracranial aneurysm was encased in a meningioma and could be safely treated during the same operation. Notably, embolizing or clipping aneurysm first and then removing intracranial tumor appears to enhance the safety of patients. This is the best treatment option if the aneurysm and meningioma can be treated concurrently in the hybrid operating room. Additionally, it may be necessary to carefully evaluate preoperative MRA or computed tomography angiography (CTA), and it is critical to confirm the existence of any vascular lesions in patients with brain tumors using MRA or CTA.

PMID:34939519 | DOI:10.1080/02688697.2021.2020213
Chasing a rarity: a retrospective single-center evaluation of prognostic factors in primary gliosarcoma

Fetched: December 24th, 2021, 5:01am GMT by Cas S Dejonckheere

Strahlenther Onkol. 2021 Dec 22. doi: 10.1007/s00066-021-01884-0. Online ahead of print.

ABSTRACT

BACKGROUND AND PURPOSE: Primary gliosarcoma (GS) is a rare variant of IDH-wildtype glioblastoma multiforme. We performed a single-center analysis to identify prognostic factors.

PATIENTS AND METHODS: We analyzed the records of 26 patients newly diagnosed with primary WHO grade IV GS. Factors of interest were clinical and treatment data, as well as molecular markers, time to recurrence, and time to death.

RESULTS: Median follow-up was 9 months (range 5-21 months). Gross total resection did not lead to improved survival, most likely due to the relatively small sample size. Low symptom burden at the time of diagnosis was associated with longer PFS (P = 0.023) and OS (P = 0.018). Median OS in the entire cohort was 12 months. Neither MGMT promoter hypermethylation nor adjuvant temozolomide therapy influenced survival, consistent with some previous reports.

CONCLUSION: In this retrospective study, patients exhibiting low symptom burden at diagnosis showed improved survival. None of the other factors analyzed were associated with an altered outcome.

PMID:34939129 | DOI:10.1007/s00066-021-01884-0
Primary central nervous system lymphoblastic B cell lymphoma located at cerebellum in a child: A case report and literature review

Fetched: December 24th, 2021, 5:01am GMT by Xueliang Yang

Pediatr Investig. 2021 Dec 13;5(4):318-322. doi: 10.1002/ped4.12303. eCollection 2021 Dec.

ABSTRACT

INTRODUCTION: Primary central nervous system lymphoma (PCNSL) is extremely rare in pediatric population. We reported a case of PCNSL in a 3-year-old girl and reviewed the literature in the past three decades.

CASE PRESENTATION: A 3-year-old girl presented with gait disturbance. A contrast-enhanced magnetic resonance image of the brain showed a solitary bulky mass in the left cerebellar hemisphere, hydrocephalus and cerebellar tonsillar hernia. Surgical resection was performed and the patient was diagnosed with primary central nervous system lymphoblastic B cell lymphoma. Then the patient received regular chemotherapy, including 6 cycles of chemotherapy containing high-dose methotrexate (HD-MTX). The patient remains alive 15 months after the diagnosis with no evidence of active disease, but suffered twice chronic subdural hematoma, which was treated by burr hole drainage.

CONCLUSION: Lymphoblastic B cell lymphoma is a rare histologic subtype of pediatric PCNSL. Chemotherapy containing HD-MTX remains the most effective treatment. The patient should avoid head impact after surgical resection of the tumor to prevent chronic subdural hematoma.

PMID:34938975 | PMC:PMC8666934 | DOI:10.1002/ped4.12303
The first two cases of posterior reversible encephalopathy syndrome (PRES) secondary to conventional transcatheter arterial chemoembolization of hepatocellular carcinoma

Fetched: December 24th, 2021, 5:01am GMT by Kefeng Jia

BMC Gastroenterol. 2021 Dec 20;21(1):492. doi: 10.1186/s12876-021-02069-w.

ABSTRACT

BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is a very rare complication secondary to transcatheter arterial chemoembolization (TACE). Only two patients with liver metastasis have been reported. We report for the first time two cases of hepatocellular carcinoma (HCC) patients occurred PRES secondary toTACE.

CASE PRESENTATION: The two patients with HCC developed headache, epilepsy, expressive aphasia, visual impairment and loss of consciousness, 11 and 3 h after conventional TACE (c-TACE) surgery. One patient experienced raised blood pressure during and after TACE, accompanied by a significant elevated creatinine. The magnetic resonance imaging (MRI) of the two patients showed multiple abnormal signals in the brain, mainly located in the white matter region. Combined with the clinical symptoms and MRI findings, PRES was diagnosed. Their symptoms and MRI changes improved significantly in the next two weeks.

CONCLUSION: The PRES in this report is chemoembolization-associated syndrome, which might be related to the use of chemotherapy agents during TACE. And if neurological symptoms occur after TACE, patients should be closely monitored to exclude PRES.

PMID:34930135 | PMC:PMC8686340 | DOI:10.1186/s12876-021-02069-w
Ureaplasma parvum meningitis following atypical choroid plexus papilloma resection in an adult patient: a case report and literature review

Fetched: December 22nd, 2021, 5:00am GMT by Na Xing

BMC Infect Dis. 2021 Dec 20;21(1):1276. doi: 10.1186/s12879-021-06975-y.

ABSTRACT

BACKGROUND: While Ureaplasma parvum has previously been linked to the incidence of chorioamnionitis, abortion, premature birth, and perinatal complications, there have only been rare reports of invasive infections of the central nervous system (CNS) in adults. Owing to its atypical presentation and the fact that it will yield sterile cultures using conventional techniques, diagnosing U. parvum meningitis can be challenging.

CASE PRESENTATION: We describe a case of U. parvum meningitis detected in an adult patient following surgical brain tumor ablation. After operation, the patient experienced epilepsy, meningeal irritation, and fever with unconsciousness. Cerebrospinal fluid (CSF) analysis showed leukocytosis (484 * 10⁶ /L), elevated protein levels (1.92 g/L), and decreased glucose concentrations (0.02 mmol/L). Evidence suggested that the patient was suffering from bacterial meningitis. However, no bacterial pathogens in either CSF or blood were detected by routine culture or serology. The symptoms did not improve with empirical antibiotics. Therefore, we performed metagenomic next-generation sequencing (mNGS) to identify the etiology of the meningitis. Ureaplasma parvum was detected by mNGS in CSF samples. To the best of our knowledge, this case is the first reported instance of U. parvum meningitis in an adult patient in Asian. After diagnosis, the patient underwent successful moxifloxacin treatment and recovered without complications.

CONCLUSIONS: As mNGS strategies can enable the simultaneous detection of a diverse array of microbes in a single analysis, they may represent a valuable means of diagnosing the pathogens responsible for CNS infections and other clinical conditions with atypical presentations.

PMID:34930148 | PMC:PMC8690907 | DOI:10.1186/s12879-021-06975-y
Cerebral lesions in hematological malignancies: a case report

Fetched: December 22nd, 2021, 5:00am GMT by Nicoletta D'Ettore

J Med Case Rep. 2021 Dec 20;15(1):603. doi: 10.1186/s13256-021-03196-4.

ABSTRACT

BACKGROUND: Progressive multifocal leukoencephalopathy is a rare central nervous system disease, resulting from reactivation of latent John Cunningham virus. Monoclonal antibodies have recently become a relevant risk factor for developing progressive multifocal leukoencephalopathy. We report the case of a 62-year-old Caucasian man who was admitted to our department in June 2020 because of right homonymous hemianopia. Magnetic resonance imaging findings were first interpreted as an intracranial relapsed lymphoma, so brain biopsy was performed, but no neoplastic cell was found. Histological sample only showed a large number of macrophages. The patient came back to our attention because of the worsening of neurological symptoms. A second magnetic resonance imaging showed widespread lesions suggestive of a demyelinating process. John Cunningham virus DNA was detected by polymerase chain reaction assay of the cerebrospinal fluid (over 9 million units/μL). The patient was treated supportively, but the outcome was poor.

DISCUSSION: A multidisciplinary assessment should be performed for differential diagnosis of cerebral lesions in hematologic malignancies. Progressive multifocal leukoencephalopathy should be suspected in cases of subacute neurological symptoms and imaging findings consistent with it, especially if the patient received immunosuppressive or immunomodulatory drugs.

PMID:34924018 | PMC:PMC8684816 | DOI:10.1186/s13256-021-03196-4
Bilateral Thalamic Glioma: A Case Report

Fetched: December 21st, 2021, 5:00am GMT by Luke Silveira

Cureus. 2021 Nov 14;13(11):e19570. doi: 10.7759/cureus.19570. eCollection 2021 Nov.

ABSTRACT

Bilateral thalamic primary gliomas are an exceedingly rare entity. Symptomology heralding a workup and diagnosis of bithalamic gliomas is diverse and varies between the pediatric and adult populations. Herein, we present a case of a 63-year-old female patient who presented with progressive gait imbalance and fatigue, prompting an outpatient brain MRI, remarkable for marked expansion of the bilateral thalami secondary to non-enhancing, T2-weighted-fluid-attenuated inversion recovery (T2-FLAIR) bright bithalamic lesions. The patient underwent a right frontal frameless stereotactic biopsy of the right thalamic lesion, with immuno-histology indicating a high-grade anaplastic astrocytoma with molecular features of glioblastoma (GBM). The patient's functional status declined precipitously in the month following her diagnostic biopsy, precluding any therapy, and the patient ultimately pursued home hospice care without further treatment. This case details the clinical management of a very rare tumor, supplementing the available literature on the progression and treatment of this rare disease.

PMID:34926042 | PMC:PMC8671068 | DOI:10.7759/cureus.19570
Importance of Differential Diagnosis of a Possible Brain Tumor in Patients with Cervical Radiculopathy

Fetched: December 20th, 2021, 5:00am GMT by Jin-Shup So

J Korean Neurosurg Soc. 2022 Jan;65(1):145-150. doi: 10.3340/jkns.2021.0127. Epub 2021 Dec 20.

ABSTRACT

Lesions occurring simultaneously in the somatosensory or motor cortex of the brain and the cervical spine are rare. Brain tumors can cause similar symptoms to cervical lesions which can lead to confusion in treatment priorities. Moreover, if cervical disease is noticeably observed in radiologic findings of a patient complaining of cervical radiculopathy with non-specific electromyography results, it is common to no longer perform further evaluation. Here we introduce two cases where the cause of cervical radiculopathy was first considered to be the result of a degenerative cervical disease but was later discovered to be a result of a brain tumor.

PMID:34923783 | DOI:10.3340/jkns.2021.0127
Characterization of novel CTNNB1 mutation in Craniopharyngioma by whole-genome sequencing

Fetched: December 20th, 2021, 5:00am GMT by Juan He

Mol Cancer. 2021 Dec 18;20(1):168. doi: 10.1186/s12943-021-01468-7.

ABSTRACT

BACKGROUND: Craniopharyngioma (CP) is rare histologically benign but clinically challenging tumor because of its intimate relationship with the critical structure in the central brain. CP can be divided into two major histologic subtypes: adamantinomatous-type CP (ACP) and papillary-type CP (PCP). Although some genetic aberrations for both categories have been revealed in previous studies, the complete spectrum of genetic changes of this tumor remains unknown.

METHODS: In this study, we conducted whole genome sequencing (WGS) on twenty-six CPs including 16 ACPs and 10 PCPs together with their matched blood samples. Somatic variants (SNVs, InDels, SVs and CNVs) were identified and mutational signatures were characterized for each patient. We investigated the impact of a novel CTNNB1 mutant on its protein stability, ubiquitination and Wnt pathway activity. Cell proliferation ability of the CTNNB1 mutant in ACP primary cells was additionally analyzed by CCK8 and colony formation assays.

RESULTS: We found that CPs had showed less complexity with fewer somatic mutations compared with malignant tumors. Moreover, mutations in CTNNB1 (68.75% of ACP) and BRAF V600E (70.00% of PCP) are mutually exclusive in ACP and PCP, consolidating that the driving roles of these two genes in ACP and PCP, respectively. A novel mutation in the exon 3 of CTNNB1 which compromised both a transversion and in-frame deletion was identified in ACP. This mutation was experimentally validated to confer β-catenin increased stability by inhibiting its ubiquitination, thus activating Wnt-signaling pathway and promoting cell proliferation.

CONCLUSIONS: Whole genome landscape for CP was revealed by WGS analysis, and a novel mutation in the exon 3 of CTNNB1 was identified. This novel mutation activates Wnt-signaling pathway through increasing the stability of β-catenin. Our findings provided us with more comprehensive insight into the spectrum of genetic alterations in CP.

PMID:34922552 | PMC:PMC8684236 | DOI:10.1186/s12943-021-01468-7
Primary extraosseous dural chondrosarcoma: a case report

Fetched: December 17th, 2021, 5:01am GMT by Francis Garay Buitron

BMC Neurol. 2021 Dec 15;21(1):489. doi: 10.1186/s12883-021-02515-y.

ABSTRACT

BACKGROUND: Dural chondrosarcoma is a very rare intracranial tumor, given that meninges do not normally contain cartilaginous tissue from which it can originate. We present a case of primary extraosseous dural chondrosarcoma.

CASE PRESENTATION: A 48-year-old woman presented to our tertiary center neurosurgery consultation with progressive headache, vomiting, vertigo, and gait instability of 5 months' duration. An initial brain CT revealed a large parietal mass with gross calcifications and subtle hyperostosis of the inner table. Subsequent brain MRI showed a heterogeneous expansive lesion with a honey-comb enhancement. Discussion of intra- or extra-axial location was warranted, and finally, initial presurgical suspicion of meningioma arose although some atypical imaging features were detected. The differential diagnosis included solitary fibrous tumor-hemangiopericytoma and dural metastasis. Total resection of the lesion was performed, extra-axial origin was confirmed, and pathology resulted in a primary dural chondrosarcoma.

CONCLUSION: The importance of this case presentation lies in the unusual nature of the final diagnosis, the brief literature review and differential diagnosis with emphasis on imaging pearls, as well as the useful reminder for physicians to consider less frequent diseases when key findings do not unambiguously lead to the usual suspects.

PMID:34911493 | PMC:PMC8672547 | DOI:10.1186/s12883-021-02515-y
BAP1-deficient meningioma presenting with trabecular architecture and cytokeratin expression: a report of two cases and review of the literature

Fetched: December 16th, 2021, 5:00am GMT by Alexander P Landry

J Clin Pathol. 2021 Dec 14:jclinpath-2021-207952. doi: 10.1136/jclinpath-2021-207952. Online ahead of print.

ABSTRACT

AIMS: BRCA (BReast CAncer gene)-associated protein 1 (BAP1), encoded by the BAP1 gene, a tumour suppressor that is lost in several cancers. Importantly, such mutations have been shown to be susceptible to poly (ADP-ribose) polymerase (PARP) inhibition in preclinical studies, offering hope for targeted therapy. While rare, BAP1 loss has been observed in a subset of rhabdoid and papillary meningioma and is associated with earlier recurrence. We seek to add to the literature on this rare disease and advocate for more routine BAP1 testing.

METHODS: We present a report of two cases of BAP1-deficient meningioma and review the available literature on this rare entity.

RESULTS: Both cases present with a distinct trabecular architecture without rhabdoid or papillary features. Interestingly, both also presented with radiographic and histopathological findings unusual for meningioma. While immunohistochemistry and genetic sequencing confirmed BAP1 loss, DNA methylation analysis was required to confirm the final diagnosis.

CONCLUSIONS: We suggest that BAP1-deficient meningioma should be considered in the differential diagnosis of extra-axial central nervous system (CNS) tumours with atypical imaging or histopathological features and that BAP1 loss may constitute a clinically important meningioma subtype with opportunities for targeted therapy.

PMID:34907091 | DOI:10.1136/jclinpath-2021-207952

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