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Rev Assoc Med Bras (1992). 2024 Oct 7;70(10):e20240833. doi: 10.1590/1806-9282.20240833. eCollection 2024.
ABSTRACT
OBJECTIVE: Phyllodes tumors in the breast are exceptionally uncommon fibroepithelial tumors. In the literature, they are typically categorized as benign phyllodes tumor, borderline phyllodes tumor, and malignant phyllodes tumor. This study aims to assess and present the clinical and surgical outcomes of patients diagnosed with phyllodes tumor.
METHODS: The outcomes of patients aged 18 years and above diagnosed with phyllodes tumor between 2006 and 2023 were retrospectively reviewed. Patients were grouped as benign phyllodes tumor and borderline/malignant phyllodes tumor and compared by clinical and surgical results.
RESULTS: Of all 57 patients with phyllodes tumor, 64.9% (n=37) were benign phyllodes tumor and 35.1% (n=20) were borderline/malignant phyllodes tumor [22.8% (n=13) borderline phyllodes tumor and 12.3% (n=7) malignant phyllodes tumor]. When the patients were divided into two groups as benign phyllodes tumor and borderline/malignant phyllodes tumor and compared, our cumulative (total) recurrence rate was 14.0%, with final surgical margin width between groups [(0<final surgical margin<2 mm vs final surgical margin≥2 mm) (p=0.154)] and recurrence [(8.1% benign phyllodes tumor vs 25.0% borderline/malignant phyllodes tumor) (p=0.080)]; there was no significant difference between our rates.
CONCLUSION: Phyllodes tumors of the breast can be followed up with a narrow negative surgical margin (0 mm<final surgical margin<2 mm). However, after the initial surgery, re-excision is recommended for positive margins, while a wider surgical margin (≥10 mm) is not necessary for excision.
PMID:39383396 | PMC:PMC11460639 | DOI:10.1590/1806-9282.20240833
Technol Cancer Res Treat. 2024 Jan-Dec;23:15330338241289474. doi: 10.1177/15330338241289474.
ABSTRACT
OBJECTIVE: To assess the diagnostic performance of FFDM-based and DBT-based radiomics models to differentiate breast phyllodes tumors from fibroadenomas.
METHODS: 192 patients (93 phyllodes tumors and 99 fibroadenomas) who underwent mammography were retrospectively enrolled. Radiomic features were respectively extracted from FFDM and the clearest slice of DBT images. A least absolute shrinkage and selection operator (LASSO) regression was used to select radiomics features. A combined model was constructed by radiomics and radiological signatures. Machine learning classification was done using logistic regression based on radiomics or radiological signatures (clinical model). Four radiologists were tested on phyllodes tumors and fibroadenomas with and without optimal model assistance. The area under the receiver operating characteristic (ROC) curve (AUC) was computed to assess the performance of each model or radiologist. The Delong test and McNemar's test were performed to compare the performance.
RESULTS: The combined model yielded the highest performance with an AUC of 0.948 (95%CI: 0.889-1.000) in the testing set, slightly higher than the FFDM-radiomics model (AUC of 0.937, 95%CI: 0.841-0.984) and the DBT-radiomics model (AUC of 0.860, 95%CI: 0.742-0.936) and significantly superior to the clinical model (AUC of 0.719, 95%CI: 0.585-0.829). With the combined model aid, the AUCs of four radiologists were improved from 0.808 to 0.914 (p=0.079), 0.759 to 0.888 (p=0.015), 0.717 to 0.846 (p=0.004), and 0.629 to 0.803 (p=0.001).
CONCLUSION: Radiomics analysis based on FFDM and DBT shows promise in differentiating phyllodes tumors from fibroadenomas.
PMID:39376181 | DOI:10.1177/15330338241289474
BMJ Case Rep. 2024 Oct 7;17(10):e262414. doi: 10.1136/bcr-2024-262414.
ABSTRACT
A woman in her 40s presented to the breast clinic with a 2-year history of an enlarging right breast lump. Examination revealed a 10 cm firm mass in the upper outer quadrant of the right breast. MRI and ultrasonography results revealed an 8 cm mass in the right breast and suspicious axillary nodes. Biopsy results of this mass revealed a sclerosed fibroadenoma (B2). Excision of the right breast lump had shown a benign phyllodes tumour, containing an incidental invasive ductal carcinoma and high-grade ductal carcinoma in situ. The patient underwent a right breast cavitectomy and sentinel lymph node biopsy, which revealed no further disease. She received adjuvant radiotherapy, chemotherapy and anti-HER2 treatment, and has remained disease-free at 20-month follow-up. The coexistence of an invasive carcinoma arising within a benign phyllodes tumour is rare. This case report underscores the importance of thoroughly examining excised specimens for phyllodes tumour to exclude malignant components.
PMID:39375162 | DOI:10.1136/bcr-2024-262414
AACE Clin Case Rep. 2024 Jul 15;10(5):193-197. doi: 10.1016/j.aace.2024.07.002. eCollection 2024 Sep-Oct.
ABSTRACT
BACKGROUND/OBJECTIVE: Non-islet cell tumor hypoglycemia (NICTH) is an uncommon condition, of which only a few cases caused by malignant phyllodes tumor of the breast have been reported. We describe a case of NICTH secondary to malignant phyllodes tumor with good response to glucocorticoid therapy.
CASE REPORT: A 62-year-old woman with a rapidly enlarging left breast mass presented with drowsiness and a capillary blood glucose level of 32.4 mg/dL. Her plasma glucose and insulin levels were 36.0 mg/dL (reference range, 72-144 mg/dL) and 0.6 mIU/L (reference range, 0.0-25.0 mIU/L), respectively. Her beta-hydroxybutyrate and c-peptide levels were undetectable. The insulin-like growth factor (IGF)-I and IGF-II levels were 37 μg/L (reference range, 43-220 μg/L) and 1062 ng/mL (reference range, 333-967 ng/mL), respectively, with an IGF-II:IGF-I molar ratio of 29.4. Prednisolone 30 mg per day was initiated with improvement in hypoglycemia. Outpatient flash glucose monitoring profile was stable with mild hypoglycemia (glucose level, 54-68.5 mg/dL) detected 5% of the time. The patient underwent left mastectomy with axillary clearance 4 weeks later. Histology was reported as malignant phyllodes tumor with extensive ductal carcinoma in situ. Prednisolone was stopped after surgery. The patient was treated with letrozole and adjuvant radiotherapy. There was no recurrence of hypoglycemia during the subsequent 24-month follow-up.
DISCUSSION: The mainstay of treatment for NICTH is surgical resection of the culprit tumor. Although glucocorticoid treatment has also been widely used for NICTH, few reports have demonstrated efficacy for NICTH secondary to phyllodes tumor.
CONCLUSION: We report a rare case of malignant phyllodes tumor of the breast resulting in NICTH and demonstrated good response to glucocorticoids as a bridge to definitive surgery.
PMID:39372821 | PMC:PMC11447540 | DOI:10.1016/j.aace.2024.07.002
Eur J Case Rep Intern Med. 2024 Sep 26;11(10):004820. doi: 10.12890/2024_004820. eCollection 2024.
ABSTRACT
BACKGROUND: Sarcomas of the breast are exceedingly rare, accounting for less than 1% of malignant breast tumors, with primary rhabdomyosarcomas being even rarer. Due to the scarcity of reported cases, the imaging characteristics of breast rhabdomyosarcoma are not well-defined, making diagnosis challenging, especially in adolescents.
CASE DESCRIPTION: We present the case of a 17-year-old female diagnosed with embryonal rhabdomyosarcoma following a comprehensive workup for right breast masses. Initial imaging showed no distant metastasis, and the patient underwent a right mastectomy followed by adjuvant chemoradiotherapy. A few months post-treatment, she developed recurrent nodules in the chest wall. Further investigation confirmed the recurrence of embryonal rhabdomyosarcoma.
CONCLUSIONS: This case underscores the importance of considering primary rhabdomyosarcoma as a differential diagnosis in adolescent breast lesions. Given its rare occurrence and potential imaging overlap with more common tumors like cystosarcoma phyllodes, awareness and careful evaluation are critical for accurate diagnosis and timely management.
LEARNING POINTS: Critical imaging insights: The report provides valuable imaging characteristics that can help differentiate rhabdomyosarcoma from more common breast tumors like fibroadenoma and cystosarcoma phyllodes, resulting in more accurate and timely diagnosis.
PMID:39372159 | PMC:PMC11451838 | DOI:10.12890/2024_004820
Cureus. 2024 Sep 3;16(9):e68589. doi: 10.7759/cureus.68589. eCollection 2024 Sep.
ABSTRACT
Breast masses presenting as fungating growths usually represent advanced malignancy. One remarkable exception is a benign phyllodes tumour. These tumours of stromal origin often exhibit rapid growth, resulting in pressure necrosis at the summit of the tumor causing fungation. It is difficult to differentiate between benign and malignant types clinically. Here, we describe two cases in which patients presented with fungating growth similar to a case of carcinoma breast, which turned out to be cases of benign phyllodes tumours. We would like to highlight the clinical features that differentiate between benign and malignant fungating growth and provide a brief update on the latest treatment modalities for phyllodes tumours.
PMID:39371779 | PMC:PMC11450233 | DOI:10.7759/cureus.68589
J Am Coll Emerg Physicians Open. 2024 Sep 26;5(5):e13298. doi: 10.1002/emp2.13298. eCollection 2024 Oct.
NO ABSTRACT
PMID:39345995 | PMC:PMC11427496 | DOI:10.1002/emp2.13298
J Cancer Res Clin Oncol. 2024 Sep 28;150(9):436. doi: 10.1007/s00432-024-05934-9.
ABSTRACT
BACKGROUND: Fibroepithelial lesions (FEL) are a heterogeneous group of biphasic tumours that include fibroadenomas (FA) and the rare entity of benign phyllodes tumors (PT) as well as cases where distinction between these two entities is not possible. The histologic distinction between benign PT and cellular FA is still a diagnostic challenge, especially in core-needle biopsy (CNB) or vacuum-assisted biopsy (VAB). Guidelines are not clearly established regarding the management of FEL in CNB or VAB. In this study, we addressed the frequency of B3 FEL diagnosed in CNB or VAB and compared the final histopathological findings in the excision specimens to evaluate up- or downgrading.
METHODS: We identified 117 female patients with the preoperative diagnosis of FEL (B3), PT, or FEL in combination of pure epithelial B3 lesions in CNB or VAB. Clinico-pathological information as well as data on subsequent surgical excision were available for all patients.
RESULTS: PT was diagnosed in 9 (14.8%) and FEL (B3) in 52 (85.2%) cases. Additionally, 56 patients with FA in combination with an additional B3 lesion were identified. Most FEL (B3)/PT initial diagnoses were made in CNB (55.6% of PT; 84.6% of FEL). After the initial biopsy, 7 of 9 (77.8%) patients with initial diagnosis of benign or borderline PT in CNB/VAB and 40 of 52 (77.0%) patients with initial diagnosis of FEL (B3) in CNB/VAB underwent open excision (OE). 4 of 9 cases (44.4%) initially diagnosed as PT were verified, whereas 2 of 9 (22.2%) were downgraded to FA. 20 of 52 cases (38.5%) initially diagnosed as FEL (B3) were downgraded to FA, whereas 11 of 52 cases (21.2%) were diagnosed as benign or borderline PT. One FEL (B3) case was upgraded to malignant PT.
CONCLUSION: Most PT and FEL (B3) diagnoses on CNB/VAB underwent surgical removal. In the final pathological findings of cases classified primarily as FEL (B3), the majority were downgraded to FA, one quarter were upgraded to PT, and a small subset remained as combined FA/PT. In clinical daily practice, we recommend individualized decision-making considering different options (clinical follow-up or removal of the lesion depending on the whole context) in a multidisciplinary preoperative conference.
PMID:39340595 | PMC:PMC11438729 | DOI:10.1007/s00432-024-05934-9
Indian J Surg Oncol. 2024 Sep;15(Suppl 3):429-433. doi: 10.1007/s13193-024-02020-x. Epub 2024 Jul 9.
NO ABSTRACT
PMID:39328727 | PMC:PMC11422533 | DOI:10.1007/s13193-024-02020-x
Br J Radiol. 2024 Sep 17:tqae147. doi: 10.1093/bjr/tqae147. Online ahead of print.
ABSTRACT
OBJECTIVES: To evaluate the performance of ultrasound-based deep learning (DL) models in distinguishing breast phyllodes tumors (PTs) from fibroadenomas (FAs) and their clinical utility in assisting radiologists with varying diagnostic experiences.
METHODS: We retrospectively collected 1180 ultrasound images from 539 patients (247 PTs and 292 FAs). Five DL network models with different structures were trained and validated using nodule regions annotated by radiologists on breast ultrasound images. DL models were trained using the methods of transfer learning and 3-fold cross-validation. The model demonstrated the best evaluation index in the 3-fold cross-validation was selected for comparison with radiologists' diagnostic decisions. Two-round reader studies were conducted to investigate the value of DL model in assisting six radiologists with different levels of experience.
RESULTS: Upon testing, Xception model demonstrated the best diagnostic performance (AUC: 0.87, 95%CI: 0.81-0.92), outperforming all radiologists (all p < 0.05). Additionally, the DL model enhanced the diagnostic performance of radiologists. Accuracy demonstrated improvements of 4%, 4%, and 3% for senior, intermediate, and junior radiologists, respectively.
CONCLUSIONS: The DL models showed superior predictive abilities compared to experienced radiologists in distinguishing breast PTs from FAs. Utilizing the model led to improved efficiency and diagnostic performance for radiologists with different levels of experience (6-25 years of work).
ADVANCES IN KNOWLEDGE: We developed and validated a DL model based on the largest available dataset to assist in diagnosing PTs. This model has the potential to allow radiologists to discriminate two types of breast tumors which are challenging to identify with precision and accuracy, and subsequently to make more informed decisions about surgical plans.
PMID:39288312 | DOI:10.1093/bjr/tqae147
Breast Cancer Res Treat. 2024 Sep 13. doi: 10.1007/s10549-024-07488-3. Online ahead of print.
ABSTRACT
PURPOSE: Germline genetic mutations in women with phyllodes tumors (PT) are understudied, although some describe associations of PT with various mutations. We sought to determine the prevalence of pathogenic/likely pathogenic (P/LP) variants in women with PT.
METHODS: A 6-site multi-center study of women with a PT was initiated, then expanded nationally through an online "Phyllodes Support Group." All women underwent 84-gene panel testing. We defined eligibility for testing based on select NCCN (National Comprehensive Cancer Network) criteria (v1.2022). Logistic regression was used to estimate the association of covariates with the likelihood of a P/LP variant.
RESULTS: 274 women were enrolled: 164 (59.9%) through multi-center recruitment and 110 (40.1%) via online recruitment. 248 women completed testing; overall 14.1% (N = 35) had a P/LP variant, and over half (N = 19) of these individuals had a mutation in genes associated with autosomal dominant (AD) cancer conditions. The most common AD genes with a P/LP variant included CHEK2, ATM, and RAD51D. A quarter of participants (23.8%) met NCCN criteria for testing, but we found no difference in prevalence of a P/LP variant based on eligibility (p = 0.54). After adjustment, the presence of P/LP variants was not associated with age, NCCN testing eligibility, or PT type (all p > 0.05).
CONCLUSION: Our study demonstrates that 7.7% of women with PT harbor germline P/LP variants in genes associated with AD cancer conditions. Early identification of these variants has implications for screening, risk reduction, and/or treatment. National guidelines for women with PT do not currently address germline genetic testing, which could be considered.
PMID:39269552 | DOI:10.1007/s10549-024-07488-3
Breast Cancer Res Treat. 2024 Sep 6. doi: 10.1007/s10549-024-07487-4. Online ahead of print.
ABSTRACT
INTRODUCTION: PD-L1 expression and tumor-associated macrophage (TAM) status in phyllodes tumors (PT) have only been examined in a limited number of studies. This study aimed to investigate the expression of PD-L1 and TAM in breast PT and examine their implications.
METHODS: Tissue microarrays were constructed from 181 PT samples, and immunohistochemistry for PD-L1 antibodies (SP142, SP263, and 22C3) and TAM markers (CD68 and CD163) were performed. The staining results were compared and analyzed with clinicopathological parameters.
RESULTS: Of the 181 samples, 149 were benign, 27 were borderline, and five were malignant. The number of CD68- and/or CD163-positive TAMs increased with increasing PT grades (P < 0.001), and the number of CD68-positive TAMs was significantly positively correlated with that of CD163-positive TAMs (R = 0.704, P < 0.001). Some of the CD68- and/or CD163-positive cells exhibited positivity for actin staining, displaying hybrid characteristics that resemble both histiocytes and myofibroblasts. PD-L1 SP263 tumor cells and PD-L1 SP263 immune cells were the most expressed in malignant PTs (P < 0.001). The number of CD68- and/or CD163-positive TAMs increased when PD-L1 SP263 immune cells were expressed (P < 0.001). The number of CD68- and/or CD163-positive TAMs was positively correlated with PD-L1 22C3 immune cells (R = 0.299, P < 0.001 and R = 0.336, P < 0.001, respectively). Univariate analysis showed that PD-L1 SP263 immune cell expression (P = 0.016) was associated with shorter disease-free survival and that PD-L1 22C3 tumor cell expression (P < 0.001) was associated with shorter overall survival.
CONCLUSION: The number of CD68- and/or CD163-positive cells increases with increasing PT histological grade, and these cells exhibit hybrid characteristics, resembling both histiocyte and myofibroblasts.
PMID:39242456 | DOI:10.1007/s10549-024-07487-4
Bull Cancer. 2024 Sep 5:S0007-4551(24)00281-9. doi: 10.1016/j.bulcan.2024.07.006. Online ahead of print.
ABSTRACT
Phyllodes tumors, borderline (BPT) and malignant (MPT), represent a rare group of fibroepithelial breast tumors. Due to their rarity, their treatment remains poorly codified. The precise incidence of these tumors remains unknown. TPMs represent half of breast sarcomas and 1 % of breast tumors. Their treatment at the localized stage is based on surgery, that can be conservative surgery or a mastectomy. The impact of oncoplastic techniques and immediate breast reconstruction is not documented. The excision margins of the BPT and MPT must be free, a wider margin can provide a benefit in local recurrence but in also overall survival in the case of TPM. The optimal width of the excision margin is not known. In the event of positive margins, a second surgery could make up the result of an insufficient first surgery. Chemotherapy does not seem to provide any benefit on recurrence-free survival, but the available data are particularly weak. The data on adjuvant radiotherapy are more important. This allows better local control in the event of breast-conserving surgery. The benefit of post-mastectomy radiotherapy is less documented but can be considered in cases of poor prognostic factors. The management of TPM at the metastatic stage is based on the use of chemotherapy (anthracyclines, Ifosfamide) and local treatment of metastases in cases of oligometastatic disease. Due to the rarity of these tumors, it is essential that their management be discussed within a network of qualified professionals (NETSARC+).
PMID:39242253 | DOI:10.1016/j.bulcan.2024.07.006
Indian J Surg Oncol. 2024 Sep;15(3):463-468. doi: 10.1007/s13193-024-01926-w. Epub 2024 Mar 19.
ABSTRACT
Phyllodes tumors (PTs) are rare neoplasms of the breast that are a challenge in clinical practice. Though mostly benign, they are notorious for local recurrence, requiring adjuvant treatments. This study was planned to report the clinicopathological features and outcomes of patients with PT treated at our center. Details of all patients who underwent surgery for PT in the last 6 years (December 2017-December 2023) were obtained from our prospectively maintained database. The demographic, clinical, radiological, pathological, and follow-up details were recorded and analyzed. Statistical analyses were carried out with Jamovi version 2.3.18. Out of 61 suspected PTs by triple assessment, 9 were excluded due to a non-phyllodes diagnosis on histopathology. We included 52 women with a mean age of 38.2 ± 11.0 years, most of whom were premenopausal (57.7%). BI-RADS 4 was the most common finding on radiological assessment (65.4%). Core needle biopsy (CNB) was the most frequently employed modality for histological diagnosis preoperatively (65.4% of cases). Wide local excisions (WLE) and mastectomies were done in 63.5% and 36.5% of patients, respectively. Benign, borderline, and malignant phyllodes constituted 67.3%, 15.4%, and 17.3% of tumors, respectively. Patients undergoing breast conservation surgery (BCS) had a significantly smaller mean tumor diameter than those who underwent a mastectomy (p < 0.001). Overall, the margin positivity rate was 34.6%. Patients undergoing mastectomy developed more local recurrence compared to WLE, although the difference was not significant (p = 0.400). The outcome following surgical excisions of large PTs in terms of margin positivity and local recurrence is the same, irrespective of whether BCS or mastectomy is done. A negative pathological margin width of > 1 mm appears acceptable. Malignant phyllodes with positive margins are associated with a higher rate of recurrence but positive margins in patients with other subtypes may not translate into recurrence, at least in the short term.
PMID:39239437 | PMC:PMC11372005 | DOI:10.1007/s13193-024-01926-w
Cureus. 2024 Aug 1;16(8):e65923. doi: 10.7759/cureus.65923. eCollection 2024 Aug.
ABSTRACT
Regardless of whether they are benign or malignant, phyllodes tumors can behave unpredictably and aggressively. Sometimes they grow so quickly and can cause clinically different, rare, and difficult situations to manage. Because of these characteristics, they can be fatal, even if they are benign. Sometimes, emergency surgical operations may be required due to the occurrence of these conditions even before the diagnosis. We report the first case of a massive bilateral phyllodes tumor, which causes severe bleeding because of rapid growth, which resulted in emergency surgery performed after a blood transfusion. The pathological diagnosis had not yet been confirmed at the time we operated on the patient, and the postoperative pathologic examination revealed that it was a phyllodes tumor. After the successful surgical operation, the patient recovered and was discharged. In this case report, we shared the presentation and management of the emergency phyllodes tumorous phenomenon. We also conveyed our views on what could have been done differently in the management of the presented case.
PMID:39221309 | PMC:PMC11364999 | DOI:10.7759/cureus.65923
Oncologist. 2024 Aug 27:oyae218. doi: 10.1093/oncolo/oyae218. Online ahead of print.
ABSTRACT
BACKGROUND: Malignant phyllodes tumors (MPT) are rare fibroepithelial breast cancers with no known effective systemic therapy; metastatic progression portends a dismal prognosis. We sought to describe the genomic landscape of MPTs through genomic profiling and immunotherapeutic biomarker analysis.
MATERIALS AND METHODS: Cases of sequenced MPT were identified from a Clinical Laboratory Improvement Amendments-certified, College of American Pathologists-accredited laboratory (Foundation Medicine). All cases underwent genomic profiling using adaptor ligation-based, next-generation sequencing assay of 324 genes. Tumor agnostic immunotherapy biomarkers, microsatellite instability, tumor mutational burden (TMB), and programmed death-ligand 1 (PD-L1) expression were evaluated. Fisher's Exact Tests and analysis of variance were used to test for differences between groups and for continuous variables as appropriate.
RESULTS: Of 135 MPT cases identified; 94 (69.6%) were localized/locally recurrent and 41 (30.4%) were metastatic. Median age was 54 years (range 14-86). The median TMB was 2.5 mut/Mb and 3 were TMB-high (≥10 mut/Mb). 21.4% were PD-L1+ via Dako 22C3 assay (CPS ≥1). Most commonly altered genes included TERT-promoter (69.7%), CDKN2A (45.9%), TP53 (37.8%), NF1 (35.6%), CDKN2B (33.3%), MED12 (28.9%), MTAP (27.7%), KMT2D (22.2%), PIK3CA (20.0%), PTEN (18.5%), and RB1 (18.5%). Several tumors harboring genomic alterations with US Food and Drug Administration-approved indications in other tumor types were found including NF1, PIK3CA, EGFR Exon 19/20 insertions, and BRAF V600E mutations.
CONCLUSIONS: In the largest genomic evaluation of MPT to date, multiple clinically actionable mutations were found. Routine sequencing of metastatic MPT may provide additional information to guide treatment decisions and clinical trial enrollment.
PMID:39191445 | DOI:10.1093/oncolo/oyae218
Ann Surg Oncol. 2024 Aug 23. doi: 10.1245/s10434-024-16089-9. Online ahead of print.
NO ABSTRACT
PMID:39179861 | DOI:10.1245/s10434-024-16089-9
Eur J Surg Oncol. 2024 Sep;50(9):108534. doi: 10.1016/j.ejso.2024.108534. Epub 2024 Jul 6.
ABSTRACT
BACKGROUND: Phyllodes tumours of the breast are rare, and their treatment is still subject to discussion. They are classified as benign, borderline, or malignant based on histopathological characteristics of the stroma. This study demonstrates 10 years' experience in diagnosis and management of malignant phyllodes.
METHODS: All patients referred for discussion at our sarcoma multidisciplinary team meeting from 2003 to 2013 with a diagnosis of malignant phyllodes were identified. Patient demographics, biopsy details, excision extent, final pathology, reconstruction, adjuvant treatment, recurrence and overall survival were assessed.
RESULTS: Thirty patients were identified over the 10 year period. Eight (26.7 %) had their diagnosis upgraded to malignant phyllodes on completion excision, compared to initial biopsy. Nine (30 %) had breast surgery elsewhere as definitive treatment before referral to our service. Four of these (44.4 %) required more extensive excision and three developed metastases (33.3 %) and died. Twenty-one patients had primary surgery through our service and three (14.3 %) died from disease. Overall, 13 patients had radical mastectomy, 92.3 % with adequate margins (>1 cm histologically) and no local recurrence, 9 simple mastectomy 22.2 % with adequate margins and 1 local recurrence and 8 wide local excision with 37.5 % adequate margins and 1 local recurrence.
CONCLUSION: For malignant phyllodes patients, the best chance to reduce recurrence and improve survival is adequate excision and radical mastectomy should be considered. For borderline lesions, consideration should be given for referral to a specialist centre and we recommend delayed reconstruction, because of the chance of histological upgrade to malignancy.
PMID:39163741 | DOI:10.1016/j.ejso.2024.108534
Cureus. 2024 Jul 20;16(7):e64997. doi: 10.7759/cureus.64997. eCollection 2024 Jul.
ABSTRACT
Background Core needle biopsy (CNB) for fibroepithelial lesions (FELs) of the breast is commonly encountered by histopathologists. The distinction between fibroadenoma (FA) and phyllodes tumor (PT) can be challenging due to overlapping histological features and the limited nature of CNB material. Objective This study aimed to assess the accuracy of CNB diagnosis of FA and PT by comparing it with a diagnosis on subsequent surgical excision specimen. Materials and methods A total of 166 cases of FELs of the breast who underwent CNB and subsequent surgical excision between January 2001 and December 2020 were included in our study. All microscopy glass slides were reviewed, and diagnosis confirmed. Results While 125 (75%) cases based on CNB received a definitive diagnosis of either fibroadenoma or PT, the remaining 41 (25%) cases were better classified on excision specimens and were descriptively diagnosed as fibroepithelial lesions on CNB. Diagnoses on CNB and on subsequent excision specimens were concordant in 113 (90.4%) cases. Among 12 cases that were discordant, three cases diagnosed as FA on CNB were upgraded to PT on excision specimens. Nine cases diagnosed as PT on CNB were diagnosed as FA on excision specimens. These included conventional, cellular, juvenile, and complex FA types. Three PTs, which were reported as FA on CNB, measured 6, 12.5, and 17.5 cm in the greatest dimension. Among 23 cases of PT which were further categorized on CNB, tumor categories changed on excision specimens in three cases. The diagnostic accuracy of CNB diagnosis was 90.4%. Conclusion CNB diagnosis showed good accuracy. PT diagnosis should be strongly considered in all tumors measuring >5 cm, especially those exceeding 10 cm. Cellular, juvenile, and complex FAs can be misdiagnosed as PT on CNB. Correlation with clinical and radiological findings can be helpful in establishing correct diagnosis.
PMID:39161474 | PMC:PMC11332694 | DOI:10.7759/cureus.64997
J Clin Pathol. 2024 Aug 19:jcp-2024-209489. doi: 10.1136/jcp-2024-209489. Online ahead of print.
ABSTRACT
AIMS: Phyllodes tumours (PTs) are relatively common fibroepithelial tumours comprising epithelial and stromal component. Usually, PTs show a spindle cell morphology with a fibroblast phenotype, while some tumour cells exhibit epithelioid morphological features and sarcomatoid transformation. However, the molecular characteristics of this morphology subset remain unclear. This study aimed to summarise the clinicopathological, morphological and molecular characteristics of seven cases of PT with epithelioid features.
METHODS: Morphological and clinicopathological characteristics were observed and retrieved. Immunohistochemistry, immunofluorescence and electron microscope were performed on seven cases of epithelioid PT to explore immunophenotypic and ultrastructural characteristics. Transcriptomic and proteomic analyses were conducted to compare differentially expressed genes and proteins between epithelioid PT and classical PT.
RESULTS: Patients with epithelioid PT exhibit a high recurrence rate (42.8%). Morphologically, in addition to having epithelioid cytological features, neoplastic stromal cells exhibit moderate to marked atypia and often exhibit sarcomatoid transformation, similar to the characteristics of borderline PT. Transcriptomic and proteomic analyses demonstrated that epithelioid PTs are distinct from classical PTs in gene expression and protein abundance levels. Immunohistochemical analysis showed that among all differentially expressed proteins, epithelioid PT showed abnormal p16/retinoblastoma expression patterns, similar to those of malignant PT.
CONCLUSIONS: Epithelioid PT has unique morphological characteristics, biological behaviour and protein expression profile, which meets the diagnostic criteria of borderline PT and is prone to sarcomatoid transformation. It may be a special morphological subgroup of borderline PT and has partial characteristics of malignant PT, which should be taken seriously in pathological diagnosis and clinical management.
PMID:39160061 | DOI:10.1136/jcp-2024-209489
Mod Pathol. 2024 Aug 21;37(12):100593. doi: 10.1016/j.modpat.2024.100593. Online ahead of print.
ABSTRACT
The differential diagnosis of malignant spindle cell neoplasms in the breast most frequently rests between malignant phyllodes tumor (MPT) and metaplastic carcinoma (MBC). Diagnosis of MPT can be challenging due to diffuse stromal overgrowth, keratin (CK) and/or p63 immunopositivity, and absent CD34 expression, which can mimic MBC, especially in core biopsies. Distinction of MPT from MBC has clinical implications, with differences in surgical approach, chemotherapy, and radiation. In this study, we evaluated MPTs (78 tumors, 64 patients) for stromal CK, p63, and CD34 expression and profiled a subset (n = 31) by targeted next-generation DNA sequencing, with comparison to MBC (n = 44). Most MPTs (71%) were CK+ and/or p63+, including 32% CK+ (25/77 focal) and 65% p63+ (32/66 focal, 10/66 patchy, and 1/66 diffuse). Thirty percent of MPTs expressed both CK and p63 (20/66), compared with 95% of MBCs (40/42, P < .001). CK and/or p63 were positive in CD34+ and CD34- MPTs. Recurrent genetic aberrations in MPTs involved TERT, TP53, MED12, CDKN2A, chromatin modifiers, growth factor receptors/ligands, and phosphoinositide-3 kinase (PI-3K) and MAPK pathway genes. Only MED12 (39%, 12/31) and SETD2 (13%, 4/31) were exclusively mutated in MPTs and not MBCs (P < .001 and P = .044, respectively), whereas PIK3R1 mutations were only found in MBCs (37%, 13/35, P < .001). Comparative literature review additionally identified ARID1B, EGFR, FLNA, NRAS, PDGFRB, RAD50, and RARA alterations enriched or exclusively in MPTs vs MBCs. MED12 was mutated in MPTs with diffuse stromal overgrowth (53%, 9/17), CD34- MPTs (41%, 7/17), and CK+ and/or p63+ MPTs (39%, 9/23), including 36% of CD34- MPTs with CK and/or p63 expression. Overall, MED12 mutation and/or CD34 expression were observed in 68% (21/31) MPTs, including 61% (14/23) of CK+ and/or p63+ tumors. Our results emphasize the prevalence of CK and p63 expression in MPTs and demonstrate the diagnostic utility of next-generation DNA sequencing, especially in MPTs with confounding factors that can mimic MBC.
PMID:39154782 | DOI:10.1016/j.modpat.2024.100593
Int J Surg Case Rep. 2024 Sep;122:110162. doi: 10.1016/j.ijscr.2024.110162. Epub 2024 Aug 13.
ABSTRACT
INTRODUCTION AND IMPORTANCE: Phyllodes tumors (PTs) are rare breast neoplasms, with an incidence rate of <1 %. Further, the coexistence of PTs and carcinoma is also uncommon. In this report, we describe a rare case of the synchronous coexistence of a benign PT and invasive ductal carcinoma (IDC) of the ipsilateral breast.
CASE PRESENTATION: A 42-year-old woman presented with a 6-month history of a tumor in her right breast. Mammography and ultrasonography revealed a 9.0 cm breast lump, and core biopsy revealed a benign PT. A simple mastectomy of the right breast revealed IDC foci in the mammary area, close to the benign PT. Right axillary lymph node staging was performed by surgery. However, no lymph node metastasis was observed. Subsequently, appropriate adjuvant therapy was initiated. Currently, the patient is doing well.
CLINICAL DISCUSSION: Breast cancer may be located close to the PT of the ipsilateral breast and is difficult to detect preoperatively, especially in cases of large PTs. Early detection of the presence of a coexisting carcinoma is clinically important because it can alter patient management.
CONCLUSION: Careful assessment of the PT using additional breast imaging tools might help identify their coexistence with breast cancer in cases of difficult diagnosis of coexistent tumors using standard breast imaging tools such as mammography or ultrasound.
PMID:39154567 | PMC:PMC11378254 | DOI:10.1016/j.ijscr.2024.110162
Pathol Res Pract. 2024 Oct;262:155551. doi: 10.1016/j.prp.2024.155551. Epub 2024 Aug 15.
ABSTRACT
BACKGROUND: Phyllodes tumors (PTs) of the breast are uncommon fibroepithelial neoplasms that tend to recur locally and may have metastatic potential. Their pathogenesis is poorly understood. Hippo signaling pathway plays an essential role in organ size control, tumor suppression, tissue regeneration and stem cell self-renewal. Hippo signaling dysfunction has been implicated in cancer. Recent evidence suggests that there is cross-talk between the Hippo signaling key proteins YAP/TAZ and the epithelial-mesenchymal transition (EMT) master regulators Snail and ZEB. In this study we aimed to investigate the expression of Hippo signaling pathway components and EMT regulators in PTs, in relation to tumor grade.
METHODS: Expression of Hippo signaling effector proteins YAP, TAZ and their DNA binding partner TEAD was evaluated by immunohistochemistry in paraffin-embedded tissue specimens from 86 human phyllodes breast tumors (45 benign, 21 borderline, 20 malignant), in comparison with tumor grade and with the expression of EMT-related transcription factors ZEB and Snail.
RESULTS: Nuclear immunopositivity for YAP, TAZ and TEAD was detected in both stromal and epithelial cells in PTs and was significantly higher in high grade tumors. Interestingly, there was a significant correlation between the expression of YAP, TAZ, TEAD and the expression of ZEB and SNAIL.
CONCLUSIONS: Our results originally implicate Hippo signaling pathway in PTs pathogenesis and suggest that an interaction between Hippo signaling key components and EMT regulators may promote the malignant features of PTs.
PMID:39153238 | DOI:10.1016/j.prp.2024.155551
Rozhl Chir. 2024;103(7):275-280. doi: 10.48095/ccrvch2024275.
ABSTRACT
Presented are three casuistics of seemingly identical breast lesions which even by adopting advanced laboratory techniques may represent diagnostic challenge. Microscopic features of some bland spindle cell lesions of different histogenesis (epithelial or mesenchymal) are misleading and a potential source of unaware errors, which might affect optimal therapeutic strategy. In the setting of three diverse entities (low-grade spindle cell metaplastic carcinoma, desmoid fibromatosis and phyllodes tumor) is documented both demanding diagnostic algorithm and revealing molecular landscape on one side as well as evolving predictive/prognostic parameters on the other one. Close interdisciplinary cooperation is inevitable for accurate interpretation/understanding of revealed diagnostic facts which is required for adjustment of competent rational and individualized therapy.
PMID:39142854 | DOI:10.48095/ccrvch2024275
Cureus. 2024 Jul 11;16(7):e64361. doi: 10.7759/cureus.64361. eCollection 2024 Jul.
ABSTRACT
Phyllodes tumor (PT) is a rare fibroepithelial breast neoplasm that is typically graded histopathologically as benign, borderline, and malignant. Malignant PTs (MPTs) exhibit marked stromal cellularity, atypia, overgrowth, increased mitotic activity, and the propensity to metastasize. MPTs represent 10%-15% of all PT cases and often have a notably aggressive disease course. Infrequently, these tumors contain heterologous histological elements, including liposarcoma and fibrosarcoma, among others. Rhabdomyosarcomatous differentiation is an exceptionally rare example of such variation. This report documents the clinical presentation and disease course of a 62-year-old woman diagnosed with MPT with rhabdomyosarcomatous differentiation, just the seventh such confirmed case in the English literature. The patient experienced an arduous disease course, developing metastases to her lungs and axial skeleton just months after her initial diagnosis. Palliative radiation and chemotherapy were initiated, but the patient unfortunately succumbed to her disease just 10 months after the initial diagnosis. This case adds to the scarce literature surrounding the rare development of a heterologous rhabdomyosarcomatous element in an MPT, as well as the decision-making process surrounding the use of radiation to treat such lesions. The details discussed in this paper may inform future approaches for patients diagnosed with this disease.
PMID:39130840 | PMC:PMC11316852 | DOI:10.7759/cureus.64361
Iran J Pathol. 2024 Spring;19(2):160-169. doi: 10.30699/IJP.2024.2006691.3186. Epub 2024 Feb 15.
ABSTRACT
BACKGROUND & OBJECTIVE: p16 has different roles in the nuclear and cytoplasmic locations. The nuclear localization of the p16 protein explains its role in cell cycle regulation. Cytoplasmic expression was considered an artifact in the initial years, but there is evidence to prove that cytoplasmic localization is real and that p16 has different roles in the nuclear and cytoplasmic locations. We aimed to study the immunoexpression of p16 protein in the nuclear and cytoplasmic locations of the epithelial and stromal compartments of fibroadenoma, invasive breast carcinoma, and a select number of phyllodes tumors.
METHODS: The study included a total of 107 patients, comprising 51 cases of invasive breast carcinoma, 51 cases of fibroadenoma, 4 cases of benign phyllodes tumors, and 1 case of lobular carcinoma in situ (LCIS). The p16 immunohistochemistry was evaluated for nuclear and cytoplasmic localization in the epithelial and stromal compartments of the tumors.
RESULTS: Of the 51 fibroadenoma cases, 23 showed strong nuclear p16 epithelial expression, but no case showed cytoplasmic expression. In 19/51 cases, stromal cells also showed strong p16 nuclear expression. Moderate stromal p16 expression was observed in 3 out of 4 cases of benign phyllodes. Out of the 51 cases of invasive carcinoma, 31 showed moderate to strong nuclear p16 immunopositivity, while 27 cases exhibited cytoplasmic p16 expression. We found a statistically significant correlation between moderate to strong nuclear p16 immunoexpression and the molecular subtype of breast carcinoma.
CONCLUSION: The cytoplasmic localization of p16 immunohistochemistry is not seen in epithelial components of fibroadenoma, while it is seen frequently in breast carcinoma. Nuclear p16 expression has a statistically significant correlation with molecular subtypes of breast carcinoma.
PMID:39118793 | PMC:PMC11304457 | DOI:10.30699/IJP.2024.2006691.3186
Cureus. 2024 Jul 7;16(7):e64043. doi: 10.7759/cureus.64043. eCollection 2024 Jul.
ABSTRACT
Introduction Fibroepithelial lesions of the breast mainly include fibroadenoma and phyllodes tumors with overlapping morphological features and varied clinical behavior. This study aims to determine the histopathological spectrum of fibroepithelial lesions of the breast in a tertiary care hospital. Methods This is a cross-sectional study that was carried out in the pathology department from 1st January 2015 to 31st December 2023. Relevant data of all fibroepithelial lesions reported during the study period were retrieved from the medical records, tabulated, and analyzed. The Pearson chi-square test was used to determine the significant association between the various clinicopathological parameters of fibroepithelial lesions. A p-value of less than 0.05 was taken as statistically significant. Results Out of a total of 195 fibroepithelial lesions, 185 (95%) were fibroadenoma, 07 (3.5%) were phyllodes tumors, and three (1.5%) were fibroadenoma with tubular adenoma. The most common age group was 21 to 40 years, with the majority of phyllodes tumors being more than 5 cm in size compared to fibroadenomas. The association between the clinicopathological characteristics such as age of patients, tumor size, and histological grade was statistically insignificant in this study. Conclusions The implementation and usage of morphological diagnostic criteria will help in diagnosing and categorizing this broad group of fibroepithelial lesions, thereby facilitating appropriate treatment for patients.
PMID:39114249 | PMC:PMC11303838 | DOI:10.7759/cureus.64043
Rare Tumors. 2024 Aug 5;16:20363613241271665. doi: 10.1177/20363613241271665. eCollection 2024.
ABSTRACT
The transformation of a benign phyllodes tumor (PT) into a malignant PT and/or carcinoma is extremely uncommon. We present a case of a 66-year-old female with a huge mass on the left breast which was successfully removed by surgical resection. The pathological diagnosis was infiltrating lobular carcinoma with pure rhabdoid features and the malignant transformation of a benign phyllodes tumor. The first time this rare case was reported, it is demonstrated a special phenomenon through the synchronous transformation of PT grades and the carcinomatous transformation of PT.
PMID:39108547 | PMC:PMC11301723 | DOI:10.1177/20363613241271665
Cureus. 2024 Jul 5;16(7):e63915. doi: 10.7759/cureus.63915. eCollection 2024 Jul.
ABSTRACT
Malignant phyllodes tumors (MPTs) represent the most pernicious type of intralobular stromal proliferation known as a "fibroepithelial lesion" (FEL). They comprise a small fraction of breast malignancies and can present as either a pure MPT or sometimes include a heterologous component (liposarcoma, chondrosarcoma, osteosarcoma, or rhabdomyosarcoma). Of the fraction of MPTs that include heterologous components, very little about those with chondroblastic osteosarcomatous differentiation has been described in the literature. As such, a characteristic staining profile has yet to be established, even though morphological analysis is the cornerstone of diagnosis. The few reported cases have described a poor prognosis. Therefore, we present a case of MPT with chondroblastic osteosarcomatous differentiation to contribute to the dearth of literature examining this entity.
PMID:39105035 | PMC:PMC11298328 | DOI:10.7759/cureus.63915
Front Oncol. 2024 Jul 18;14:1405404. doi: 10.3389/fonc.2024.1405404. eCollection 2024.
ABSTRACT
Contrast-enhanced breast magnetic resonance imaging (MRI) is currently recommended as a screening tool for high-risk women and has been advocated for women with radiologically dense breast tissue. While breast MRI is acknowledged for its high sensitivity (with an exception for lower-grade ductal carcinoma in situ (DCIS) where emerging techniques like diffusion-weighted imaging offer improvement), its limitations include sensitivity to hormonal changes and a relatively high false-positive rate, potentially leading to overdiagnosis, increased imaging uncertainty, and unnecessary biopsies. These factors can exacerbate patient anxiety and impose additional costs. Molecular imaging with breast-targeted Positron Emission Tomography (PET) has shown the capability to detect malignancy independent of breast density and hormonal changes. Furthermore, breast-targeted PET has shown higher specificity when compared with MRI. However, traditional PET technology is associated with high radiation dose, which can limit its widespread use particularly in repeated studies or for undiagnosed patients. In this case report, we present a clinical application of low-dose breast imaging utilizing a breast-targeted PET camera (Radialis PET imager, Radialis Inc). The case involves a 33-year-old female patient who had multiple enhanced lesions detected on breast MRI after surgical removal of a malignant phyllodes tumor from the right breast. A benign core biopsy was obtained from the largest lesion seen in the left breast. One month after the MRI, 18F-fluorodeoxyglucose (18F-FDG) PET imaging session was performed using the Radialis PET Imager. Although the Radialis PET Imager has proven high count sensitivity and the capability to detect breast lesions with low metabolic activity (at a dose similar to mammography), no areas of increased 18F-FDG uptake were visualized in this particular case. The patient underwent a right-sided nipple-sparing mastectomy and left-sided lumpectomy, with bilateral reconstruction. The excised left breast tissue was completely benign, as suggested by both core biopsy and the PET results. The case presented highlights a promising clinical application of low-dose breast-targeted PET imaging to mitigate the uncertainty associated with MRI while keeping radiation doses within the safe range typically used in X-ray mammography.
PMID:39091907 | PMC:PMC11291220 | DOI:10.3389/fonc.2024.1405404
Ann Surg Oncol. 2024 Nov;31(12):8048-8056. doi: 10.1245/s10434-024-15892-8. Epub 2024 Jul 31.
ABSTRACT
BACKGROUND: Optimal surgical margin width for patients with phyllodes tumors (PTs) of the breast remains debated. The aim of this study was to assess the influence of margin width on long-term local recurrence risk.
PATIENTS AND METHODS: This was a single-institution retrospective review of patients with confirmed PT treated from 2008-2015. Margins were defined as positive (ink on tumor), narrow (no tumor at inked margin but < 10mm), or widely free (>/= 10mm). LR rates were estimated by the Kaplan-Meier method.
RESULTS: Among 117 female patients, histology included 55 (47%) benign, 29 (25%) borderline, and 33 (28%) malignant PT. Final margins were positive in 16 (14%), narrow in 32 (27%), widely free in 64 (55%), and unknown in 5 (4%) patients. Compared with margins > 10 mm, patients with positive and narrow margins had a higher LR risk [HR 10.57 (95% CI 2.48-45.02) and HR 5.66 (95% CI 1.19-26.99), respectively]. Among benign PTs, the 10-year LR-free rates were 100%, 94%, and 66% for widely negative, narrow, and positive margins, respectively (p = 0.056). For borderline/malignant PT, the 10-year LR-free rates were 93% and 57% for widely negative and narrow margins, respectively (p = 0.02), with no difference in LR between narrow and positive margin groups (p = 1.00).
CONCLUSIONS: For benign PTs, a margin of no ink on tumor appears sufficient to optimize local control. In patients with borderline or malignant PTs, achieving a wide surgical margin may remain important as narrower margins were associated with LR rates comparable to those with positive margins.
PMID:39085546 | DOI:10.1245/s10434-024-15892-8
J Natl Compr Canc Netw. 2024 Jul 29;22(7):e247023. doi: 10.6004/jnccn.2024.7023.
ABSTRACT
BACKGROUND: Malignant phyllodes tumors (MPTs) are rare breast tumors with high risks of local recurrence and distant metastasis. Surgical intervention is the primary treatment, but the effectiveness of adjuvant therapies is uncertain. This study was designed to analyze the prognostic risk factors associated with MPTs and evaluate the efficacy of postoperative adjuvant chemotherapy.
PATIENTS AND METHODS: Patients who were first diagnosed with MPT without distant metastasis and received R0 resection surgery between 1999 and 2023 were included in the present study and stratified into 2 groups: chemotherapy and nonchemotherapy groups. Propensity score matching (PSM) was used to balance baseline characteristics between groups. Kaplan-Meier curves were used to estimate local recurrence-free survival (LRFS) and overall survival (OS). Cox proportional hazards analyses (univariate and multivariate) were conducted to identify prognostic risk factors.
RESULTS: We conducted a study involving 145 patients, 31 of whom underwent a total of 12 different chemotherapy regimens following initial surgical resection. Most patients received chemotherapy regimens primarily consisting of anthracyclines, including anthracycline + ifosfamide (AI) or anthracycline + cyclophosphamide/docetaxel (AC-T) regimens. After a median follow-up of 54.5 months, 37 (25.5%) patients experienced local recurrence and 24 (16.6%) experienced distant metastasis. No significant difference was detected in the rates of local recurrence or distant metastasis between the 2 groups. Axillary lymph node positivity was the only risk factor for LRFS, whereas older age, larger tumors, axillary lymph node positivity, local recurrence, and distant metastasis were significantly associated with worse OS. Chemotherapy did not emerge as a protective factor for LRFS (P=.501) or OS (P=.854). After PSM, patients in the chemotherapy group did not exhibit better 5-year LRFS (P=.934) or 5-year OS (P=.328).
CONCLUSIONS: According to our retrospective evaluation, postoperative adjuvant chemotherapy was not associated with improved survival in patients with MPTs without distant metastasis.
PMID:39074497 | DOI:10.6004/jnccn.2024.7023
J Surg Case Rep. 2024 Jul 25;2024(7):rjae465. doi: 10.1093/jscr/rjae465. eCollection 2024 Jul.
ABSTRACT
Phyllodes tumors (PTs) and Metaplastic Malignant Spindle Cell Carcinoma (MMSCC) are rare and challenging breast malignancies. MMSCC is even rarer and highly aggressive. Surgical excision is the mainstay of treatment for both, but MMSCC generally carries a poorer prognosis. A 46-year-old woman with a history of breast augmentation 4 years ago presented with a rapidly progressing right breast mass. Imaging and core biopsy suggested a malignant PT. A right mastectomy with latissimus dorsi flap reconstruction was done. Initially diagnosed as a malignant PT, the post-operative pathology revealed a co-existence of malignant PT and MMSCC, an extremely rare finding. This case reports the unique challenge of a patient harboring both malignant PT and MMSCC within the same breast tissue. This exceedingly rare co-existence emphasizes the diagnostic complexities associated with uncommon breast malignancies. Our case highlights the challenges of diagnosing and managing uncommon and aggressive breast malignancies.
PMID:39056023 | PMC:PMC11272168 | DOI:10.1093/jscr/rjae465
Heliyon. 2024 Jun 20;10(13):e33259. doi: 10.1016/j.heliyon.2024.e33259. eCollection 2024 Jul 15.
ABSTRACT
The aim of the present study was to explore the functional mechanism of NF-Kappa B-interacting Long non-protein coding RNA (NKILA) in breast malignant phyllodes tumors (BMPTs). The expression and functional role of NKILA were investigated by performing qRT‒PCR, Transwell assays, and CCK‒8 assays in primary BMPT cells. A Kaplan‒Meier curve was used to assess overall survival (OS) and local recurrence-free survival (LRFS). The location and expression levels of NKILA and P65 were determined by fluorescence in situ hybridization (FISH) and immunofluorescence (IF), respectively. NKILA was downregulated in patients with BMPT, especially in patients with local recurrence. NKILA had an antitumor effect and promoted the chemosensitivity of cells to cisplatin by blocking P65 phosphorylation and nuclear translocation. In conclusion, NKILA may be a potential therapeutic target for BMPT, especially for BMPT patients with local recurrence.
PMID:39027510 | PMC:PMC11255658 | DOI:10.1016/j.heliyon.2024.e33259
Acta Pharm Sin B. 2024 Jul;14(7):2942-2958. doi: 10.1016/j.apsb.2024.04.023. Epub 2024 Apr 24.
ABSTRACT
Breast phyllodes tumor (PT) is a rare fibroepithelial neoplasm with potential malignant behavior. Long non-coding RNAs (lncRNAs) play multifaceted roles in various cancers, but their involvement in breast PT remains largely unexplored. In this study, microarray was leveraged for the first time to investigate the role of lncRNA in PT. We identified lncRNA ZFPM2-AS1 was significantly upregulated in malignant PT, and its overexpression endowed PT with high tumor grade and adverse prognosis. Furthermore, we elucidated that ZFPM2-AS1 promotes the proliferation, migration, and invasion of malignant PT in vitro. Targeting ZFPM2-AS1 through nanomaterial-mediated siRNA delivery in patient-derived xenograft (PDX) model could effectively inhibit tumor progression in vivo. Mechanistically, our findings showed that ZFPM2-AS1 is competitively bound to CDC42, inhibiting ACK1 and STAT1 activation, thereby launching the transcription of TNFRSF19. In conclusion, our study provides evidence that ZFPM2-AS1 plays a pivotal role in the pathogenesis of breast PT, and suggests that ZFPM2-AS1 could serve as a prognostic indicator for patients with PT as well as a promising novel therapeutic target.
PMID:39027255 | PMC:PMC11252458 | DOI:10.1016/j.apsb.2024.04.023
J Cancer Res Ther. 2024 Apr 1;20(3):1103-1105. doi: 10.4103/jcrt.jcrt_2154_22. Epub 2023 Apr 4.
ABSTRACT
Mammary hamartoma are rare neoplasms of the breast. Myoid mammary hamartoma are a subtype comprising of prominent smooth muscle component along with normal breast tissue components including fibrous, adipose, and glandular tissue. We report the case of a 38-year-old lady who presented with a large 21 × 15 cm, firm, mobile lump in right breast, clinically mimicking as phyllodes tumor. The lesion was reported as BIRADS 4a on mammography. Fine needle aspiration cytology suggested benign breast disease. Wide local excision was performed. The excised lump was solid, gray-white with fatty yellowish areas. Histological features were of myoid mammary hamartoma. To the best of our knowledge, this is the largest myoid hamartoma reported till date. Fine needle aspiration, needle biopsy, and immunohistochemistry are of limited value as diagnostic modalities in these lesions. Complete surgical excision, proper identification, and follow-up is essential, as these lesions, more commonly those which are incompletely excised, can recur.
PMID:39023627 | DOI:10.4103/jcrt.jcrt_2154_22
J Cancer Res Ther. 2024 Apr 1;20(3):1097-1099. doi: 10.4103/jcrt.jcrt_467_22. Epub 2023 Apr 4.
ABSTRACT
The lung is the most common site of metastases in the case of phyllodes tumor of the breast followed by bone. However, pneumothorax as a presenting complaint in a patient of bilateral cavitating lung metastases from malignant phyllodes tumor of the breast has never been reported to our knowledge. We herein report a case of a 34-year-old female presenting with sudden onset of chest pain in already existing lung metastases who on imaging showed the development of bilateral pneumothorax. We should, therefore, be on the lookout for the potential development of spontaneous pneumothorax in such cases.
PMID:39023625 | DOI:10.4103/jcrt.jcrt_467_22
Cureus. 2024 Jun 16;16(6):e62487. doi: 10.7759/cureus.62487. eCollection 2024 Jun.
ABSTRACT
Phyllodes tumors (PTs) of the breast are rare fibroepithelial neoplasms, typically characterized by their benign nature. We present a unique case of a 29-year-old Pakistani female who initially presented with a benign PT in her left breast. Despite undergoing multiple surgical resections over the course of a decade, the tumor exhibited a remarkable transformation in biology, progressing from a benign phenotype to malignancy. Subsequent recurrences manifested with increasing aggressiveness, ultimately culminating in distant metastasis to the bones, axillary nodes, chest wall, and abdominal wall. This case underscores the unpredictable nature of PTs and highlights the challenges in managing recurrent cases with malignant transformation. The clinical course described herein emphasizes the importance of vigilant monitoring and individualized treatment strategies in such cases.
PMID:39022495 | PMC:PMC11251937 | DOI:10.7759/cureus.62487
J Natl Compr Canc Netw. 2024 Jul;22(5):331-357. doi: 10.6004/jnccn.2024.0035.
ABSTRACT
Breast cancer is treated with a multidisciplinary approach involving surgical oncology, radiation oncology, and medical oncology. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Breast Cancer include recommendations for clinical management of patients with carcinoma in situ, invasive breast cancer, Paget's disease, Phyllodes tumor, inflammatory breast cancer, and management of breast cancer during pregnancy. The content featured in this issue focuses on the recommendations for overall management of systemic therapy (preoperative and adjuvant) options for nonmetastatic breast cancer. For the full version of the NCCN Guidelines for Breast Cancer, visit NCCN.org.
PMID:39019058 | DOI:10.6004/jnccn.2024.0035
Cureus. 2024 Jun 10;16(6):e62114. doi: 10.7759/cureus.62114. eCollection 2024 Jun.
ABSTRACT
Phyllodes tumors (PTs) are uncommon breast tumors. They represent a spectrum of benign to malignant neoplasms. These erratic tumors have traits ranging from fibroadenomas on one end of the spectrum to sarcomas on the other end. The presentation of PT is variable, thus posing a diagnostic difficulty. Malignant PTs are often associated with recurrence, poor prognosis, and adverse disease outcomes. The recent genetic studies produced by genome sequencing offer information about the molecular pathophysiology of PT, aid in enhancing diagnostic precision, and suggest possible therapeutic targets in cases of malignant PT. Planning a treatment modality and prognostication requires meticulous histopathological sampling, as it relies on a correct histopathological diagnosis. There are no definitive guidelines for surgical management and targeted therapy for malignant PTs due to the rarity of these cases and very little available literature on these topics. Here in this article, we address a malignant PT in a 74-year-old female that presented as a breast mass mimicking metaplastic breast carcinoma histologically. This article also illuminates how immunohistochemistry plays a vital role in the diagnosis of this tumor.
PMID:38993445 | PMC:PMC11238664 | DOI:10.7759/cureus.62114
Afr Health Sci. 2023 Dec;23(4):266-274. doi: 10.4314/ahs.v23i4.29.
ABSTRACT
BACKGROUND: Breast phyllodes tumors (BPT) have variable malignant potential, their histological classification remains insufficient for an accurate diagnosis.
OBJECTIVES: We attempted to investigate CD10 (Cluster of differentiation 10) and EGFR (Epidermal growth factor receptor) expression in BPT in order to highlight their diagnostic and prognostic values.
METHODS: Eight patients with BPT are recruited from January 2014 to December 2020 and immunohistochemical assessment of CD10 and EGFR is realized.
RESULTS: Median age was 27±15.2, the mean tumor size was 9.63±10.21. Only malignant tumours showed expression for EGFR. Borderline and malignant tumors were CD10 positive. Patients overexpressing CD10 were postmenopausal with great tumor size, 25% of these were sarcomatous. Coexistence of CD10 and EGFR overexpression was found in 25% of cases and was associated with age (P=0.008), tumor size (P=0.030) and hitologic types (P=0.014). PC1 and PC2, were extracted, they accounted cumulatively for 94.7% of the variance of the data analysed, it suggests that patient's age and histological type of tumor have significant association with CD10 and EGFR expression in BPT.
CONCLUSIONS: EGFR and CD10 overexpressed combined proteins in phyllode tumors constitute, with histopathological parameters, an important prognostic factor as well as a promising potential targets.
PMID:38974258 | PMC:PMC11225475 | DOI:10.4314/ahs.v23i4.29
Breast Dis. 2024;43(1):231-236. doi: 10.3233/BD-240011.
ABSTRACT
Phyllodes tumor is an uncommon breast neoplasm that is present in variable sizes. Giant phyllodes are those larger than 10 cm in diameter. Clinically, giant phyllodes tumors present as a visible, rapidly growing mass distorting the breast contour. Such tumors with large size and rapid growth rate suggest a phyllode diagnosis of fibroadenoma. Planning a standard treatment strategy for these tumors is quite challenging. While adequate surgical excision with tumor-free resection margins is the standard of care for most giant phyllodes cases, borderline and malignant giant phyllodes tumors might require wider resections given their high recurrence rates. Some authors described total mastectomy as the treatment option for giant borderline and malignant phyllodes to obtain wide, clear margins. Between March 2022 and September 2023, our surgical oncology department presented and operated on three cases of giant phyllodes. They underwent a nipple-sparing mastectomy and immediate breast reconstruction using pre-pectoral silicone implants. We think that with such a procedure, we can benefit from the wide, safe margins of mastectomy that have been proven to decrease local recurrence rates while considering the aesthetic outcome.
PMID:38968039 | PMC:PMC11307034 | DOI:10.3233/BD-240011
Front Oncol. 2024 Jun 20;14:1377074. doi: 10.3389/fonc.2024.1377074. eCollection 2024.
ABSTRACT
Phyllodes tumours or cystosarcoma phyllodes are fibroepithelial tumours of the breast and represent 1% of breast tumours. A 20-year-old nullipara presented with an enlarging left breast mass over 6 months. Although widely excised, it was reported to be a 12 × 10 × 5.5-cm borderline phyllodes tumour with involvement of the superior and inferior margins. Seven months later, she presented with a new ipsilateral breast lump measuring 8.5 × 7.5 × 4.6 cm. She underwent a left mastectomy, a three-rib resection with titanic rods for the thoracic cage reconstruction, and a latissimus dorsi flap wound closure. Histopathology revealed a high-grade malignant phyllodes tumour with features of osteoid differentiation with the nearest deep margin measuring 3 mm. She developed metastasis to the ipsilateral axillary lymph nodes and contralateral lung 2 months postoperatively. She was given palliative radiotherapy 60 Gy in 30 fractions to the left axilla. She developed sudden lower-limb weakness due to spinal metastases. The symptoms resolved with radiotherapy to the thoracic spine (T4-T8). As the lesion continued to grow rapidly from the anterior chest wall encircling towards the back, it was deemed unresectable. She was given palliative chemotherapy (doxorubicin six cycles, followed by ifosfamide one cycle) but had disease progression. She passed away 3 months later. The mainstay of treatment for phyllodes tumour is excision with a minimal margin of 1 cm. Although margins were involved after the first surgery, she was followed up as the pathology was a borderline phyllodes. When the lump recurred and had transformed, despite extensive surgery, it returned shortly and progressed. A borderline phyllodes should be excised to obtain a minimal margin of 1 cm, even if it means performing a mastectomy, to minimise recurrence. A recurrence may undergo malignant transformation which is largely chemotherapy and radiotherapy resistant. This will result in a poor outcome and decreased survival.
PMID:38966061 | PMC:PMC11222410 | DOI:10.3389/fonc.2024.1377074
BMJ Case Rep. 2024 Jul 3;17(7):e258640. doi: 10.1136/bcr-2023-258640.
ABSTRACT
Malignant phyllodes tumours (PTs) are aggressive neoplasms with high rates of local recurrence and distant metastasis. With no known effective chemotherapy and no approved targeted therapy in the setting of metastatic disease, prognosis is limited with an often-relapsing course of disease. We report a case of a woman in her late 30s with a diagnosis of recurrent metastatic malignant PT who was found to have acrometastases of the malignant PT to the right distal index and small digits. We emphasise the potential for atypical patterns of metastases in patients with malignant PT and the need to recognise acrometastasis as an unusual but morbid manifestation of disease. Given the high growth rate of malignant PTs, the lack of systemic treatment options, and the ensuing distress for patients, prompt diagnosis and early intervention is crucial.
PMID:38960430 | DOI:10.1136/bcr-2023-258640
J Family Med Prim Care. 2024 May;13(5):2149-2151. doi: 10.4103/jfmpc.jfmpc_983_23. Epub 2024 May 24.
ABSTRACT
Malignant phyllodes, along with ductal carcinoma, is known as metaplastic cancer of the breast. This tumor is additionally known as breast carcinosarcoma. Malignant phyllodes in conjunction with ductal carcinoma is a rare finding in routine clinical practice. We describe the case report of a 47-year-old female patient who arrived with a large right breast mass. A core biopsy was performed, and histopathological examination indicated that the tumor was a malignant phyllodes tumor. A positron emission tomography (PET) scan revealed hyper-metabolic and hypo-metabolic tumors with perilesional stranding and satellite nodularity. There were a few metastatic right axillary nodes visible. There was no indication of distant metastases. Due to the presence of both components, a modified radical mastectomy surgery with axillary dissection was undertaken for this patient. Histopathological analysis of paraffin sections revealed ductal carcinoma in situ (DCIS) comedo-epithelial component and spindle-shaped cells with hyper-chromatic oval nuclei and scanty cytoplasm.
PMID:38948622 | PMC:PMC11213368 | DOI:10.4103/jfmpc.jfmpc_983_23
Am J Surg Pathol. 2024 Sep 1;48(9):1146-1153. doi: 10.1097/PAS.0000000000002264. Epub 2024 Jun 27.
ABSTRACT
The World Health Organization (WHO) diagnostic criteria for malignant phyllodes tumor (MPT) may miss a significant number of MPTs with metastatic potential. New refined diagnostic criteria (Refined Criteria) for MPT were recently proposed. The aim of this study is to validate the Refined Criteria. This validation study included 136 borderline (borderline phyllodes tumor [BoPT]) and MPT cases that were not included in the initial study. We evaluated tumor classifications based on both the Refined Criteria and the WHO criteria. The Refined Criteria defines MPT when these criteria are met (1) stromal overgrowth with ≥ 1 feature(s) of marked stromal cellularity, marked stromal cytologic atypia, or ≥10 mitoses per 10 high-power fields (10 mitoses/10 HPFs) or (2) marked stromal cellularity with ≥1 feature(s) of marked stromal cytologic atypia, ≥10 mitoses/10 HPFs or permeative border. The WHO criteria require all 5 morphologic features (stromal overgrowth, permeative border, marked stromal cellularity, marked stromal cytologic atypia, and ≥10 mitoses/10 HPFs) for an MPT diagnosis. Using the Refined Criteria, none of the 61 BoPTs developed metastasis and 40.0% of the 75 MPTs developed metastases; local recurrence was seen in 11.5% BoPTs and 25.3% MPTs. Using the WHO criteria, 9.6% of the 94 BoPTs developed metastases and 50.0% of the 42 MPTs developed metastases; 14.9% of the BoPTs had local recurrence and 28.6% of the MPTs had local recurrence. Nine (30.0%) of the 30 tumors that developed distant metastases were diagnosed as BoPTs by the WHO criteria. When we combined the 75 MPTs from this validation cohort with the 65 MPT cases from the published data using the Refined Criteria, 50 (35.7%) of the 140 MPTs developed metastases, whereas 8 cases with metastases were <5 cm. In the univariate analysis with log-rank test, stromal overgrowth, marked stromal cellularity, marked stromal cytologic atypia, ≥10 mitoses/10 HPFs, presence of heterologous components other than liposarcomatous component, and presence of stromal necrosis were significantly associated with the risk of metastasis (all with P < 0.05). In multivariate analysis with Cox proportional hazard regression, stromal overgrowth and marked stromal cellularity were significantly associated with metastasis (both with P < 0.001). The Refined Criteria are superior to the WHO criteria in predicting the clinical outcomes of BoPTs and MPTs. Using the Refined Criteria, 35.7% of 140 patients with MPT developed metastases, whereas none (0%) of the patients with BoPT developed metastases. Patients with MPT have a high metastatic rate; these patients may benefit from systemic chemotherapy or targeted therapies. In contrast, patients with BoPT may be managed with complete local excision alone without chemotherapy.
PMID:38934254 | DOI:10.1097/PAS.0000000000002264
World J Nucl Med. 2024 Apr 25;23(2):147-150. doi: 10.1055/s-0044-1786519. eCollection 2024 Jun.
ABSTRACT
Phyllodes tumor is a rare fibroepithelial neoplasm of the breast. This tumor tends to spread by hematogenous route, with common metastatic sites in the lungs, bones, and liver. Metastases to the pleura, stomach, pancreas, kidneys, and adrenal gland are rare. We present a case of a 52-year-old lady with malignant phyllodes tumor of breast undergone local tumor resection, followed by solitary lung metastasis with lobectomy, and subsequently diagnosed of multiple new metastatic sites in pleura, stomach, pancreas, kidneys, adrenal gland, and bone detected on 2-deoxy-2-[18F]fluoro-D-glucose positron emission tomography/computed tomography within 2 years.
PMID:38933073 | PMC:PMC11199038 | DOI:10.1055/s-0044-1786519
Cureus. 2024 May 24;16(5):e61020. doi: 10.7759/cureus.61020. eCollection 2024 May.
ABSTRACT
We present the case of a 52-year-old female with a giant phyllodes tumor (GPT), which was fungating through the skin that showed fleshy polypoid outgrowths. Histological analysis revealed stromal atypia, mitotic activity, and stromal overgrowth; however, the tumor border was well-defined, and malignant heterologous elements were not observed. Therefore, as some but not all malignant histological characteristics were present, we diagnosed the patient with borderline GPT. In cases of phyllodes tumor (PT) with the unique gross findings of fungation through the skin as fleshy polypoid outgrowths, caution is required for the subsequent course because even if the PT is graded as benign histologically, a malignant process can occur. Pathologists should note that the sampling of the collection site and the ambiguity of the histological grading of PT may affect the final diagnosis of GPT. It is also important to perform surgery with adequate preservation of the resected margins to control recurrence for patients with GPT.
PMID:38910772 | PMC:PMC11194046 | DOI:10.7759/cureus.61020
Int J Surg Case Rep. 2024 Aug;121:109897. doi: 10.1016/j.ijscr.2024.109897. Epub 2024 Jun 12.
ABSTRACT
INTRODUCTION AND IMPORTANCE: Breast pathology in adolescents is rare and predominantly benign, with abnormalities including congenital anomalies, infections, mastodynia, nipple discharge, and mostly benign breast masses. Fibroepithelial tumors, the most common type, form a heterogeneous group that includes benign, borderline, and malignant entities such as phyllodes tumors. Differentiation of these tumors, especially various types of fibroadenomas, requires histopathological examination due to their similar radiological appearances and lesion heterogeneity. Recognizing the nature of these lesions is crucial to avoid missing malignant forms with metastatic potential. Giant juvenile fibroadenoma is a quite rare benign fibroepithelial tumour, that cannot be differentiate from phyllodes tumors before anatomopathological examination.
CASE REPORT: We report the case of a 14-year-old patient who presented with a rapidly enlarging mass in the left breast, and the diagnosis of giant juvenile adenofibroma was confirmed after surgical treatment.
CLINICAL DISCUSSION: Giant juvenile fibroadenomas occurs in adolescent girl and constitutes 0.5 % - 4 % of all fibroadenomas cases. When it exceeds 5 cm, weighs more than 500 g, or occupies more than 4/5 of the breast, it is considered as giant. It is characterized by a rapid increase in size, causing distortion and compression of the breast. Breast ultrasound is the first imaging modality, showing a large, well-limited hypo or iso echoic mass. The main differential diagnosis should be made with phyllodes tumors. The diagnosis is considered based on clinical and radiological features but is confirmed only after surgical excision of the mass and histological study.
CONCLUSION: The discovery of a breast mass in an adolescent should prompt further investigations to avoid overlooking a fibroepithelial tumour. The most probable diagnoses are giant juvenile fibroadenoma and phyllodes tumors.
PMID:38906040 | PMC:PMC11252914 | DOI:10.1016/j.ijscr.2024.109897
Clin Transl Oncol. 2024 Jun 20. doi: 10.1007/s12094-024-03544-y. Online ahead of print.
ABSTRACT
OBJECTIVE: While the majority of breast neoplasms originate from epithelial cells, a rare part of them originate from mesenchymal breast tissue. This study aims to present the histomorphological and clinicoradiological features of our series of primary mesenchymal breast tumors and to discuss the features of these tumors in light of the literature.
MATERIALS AND METHODS: Cases diagnosed as primary mesenchymal breast tumor in breast resection materials evaluated in our center between 2010 and 2023 were included.
RESULTS: Of the 26 tumors included, 57.7% were diagnosed as benign and 42.3% as malignant mesenchymal tumor. Cases diagnosed as benign mesenchymal tumor were hemangioma, lipoma, extra-abdominal fibromatosis, leiomyoma, angiofibroma, lipomatosis, benign fibrous histiocytoma and granular cell tumor. Histopathological study results were compatible with angiosarcoma in 5 (45.4%), undifferentiated sarcoma in 3 (27.3%), myxofibrosarcoma in 2 (18.2%) cases and rhabdomyosarcoma in 1 (9.1%) case.
CONCLUSION: Primary breast sarcomas are rarely seen compared to benign mesenchymal tumors and constitute less than 0.1% of all malignant breast tumors. When histomorphological findings suggestive of a mesenchymal tumor are observed in breast specimens, sufficient sampling should be performed to exclude a possible phyllodes tumor, and clinicoradiological findings should be examined to exclude the possibility of a metastasis.
PMID:38902492 | DOI:10.1007/s12094-024-03544-y
Clin Case Rep. 2024 Jun 16;12(6):e9096. doi: 10.1002/ccr3.9096. eCollection 2024 Jun.
ABSTRACT
Large malignant breast phyllodes tumors are uncommon in clinical settings. Here, we report such a case to provide a reference for clinical work. A 48-year-old woman identified a lump in her right breast, which eventually grew up to 25 cm × 10 cm and began to rapidly bleed and ulcerate within 3 months. The patient had visible signs of anemia and significant emaciation as a result of the tumor's wasting effect and the protracted course of the disease. The patient underwent a modified radical mastectomy on the right breast. The pathology results obtained after surgery revealed a malignant phyllodes tumor. No adjuvant therapy, such as chemotherapy or radiation, was administered. The patient had no symptoms of tumor recurrence and complications from the surgery after a follow-up of 9 months.
PMID:38887305 | PMC:PMC11180603 | DOI:10.1002/ccr3.9096
Histol Histopathol. 2024 Jun 4:18773. doi: 10.14670/HH-18-773. Online ahead of print.
ABSTRACT
BACGROUND: Breast phyllodes tumors (BPTs) are difficult to differentiate from other tumor types. In-depth research is needed due to the insufficient description of the amine oxidase protein family, particularly in BPTs.
OBJECTIVE: This study investigated the expression and clinical implications of amine oxidase-related proteins in BPTs.
METHODS: Tissue microarrays were constructed (n=181), and amine oxidase-related proteins of monoamine oxidase (MAO) A, MAOB, lysyl oxidase (LOX), and primary-amine oxidase 3 (AOC3) were assessed using immunohistochemical staining. Staining patterns of these proteins were compared and analyzed with clinicopathologic parameters.
RESULTS: In all, 149, 27, and 5 cases were classified as benign, borderline, and malignant, respectively. A higher grade of BPT was associated with increased MAOB (p<0.001), LOX (p=0.035), and AOC3 (p<0.001) expression. BPT cases with tumor recurrence and distant metastasis had higher proportions of MAOB positivity in stromal components (P=0.002 and 0.018, respectively). During follow-up, there was a significant association between MAOB positivity in the stromal component and shorter disease-free survival (DFS) (P=0.001) as well as overall survival (P=0.003). Moreover, MAOB positivity emerged as an independent factor for shorter DFS (hazard ratio: 4.253, 95% confidence interval: 1.034-17.49, P=0.045).
CONCLUSIONS: Higher MAOB, LOX, and AOC3 expression were observed in higher-grade BPTs, and MAOB expression was identified as a significant prognostic factor.
PMID:38887035 | DOI:10.14670/HH-18-773
Cureus. 2024 May 13;16(5):e60189. doi: 10.7759/cureus.60189. eCollection 2024 May.
ABSTRACT
Giant fibroadenomas are common in young females and are rarely reported in perimenopausal or menopausal females. These fibroadenomas are observed as single, mobile, small to large, with distinct boundaries. These tumors are hyperplastic and characterized by their aberrant growth in both the epidermal and mesenchymal layers, which can be accompanied by pain in some instances. These tumors have similar clinical resemblances to other epithelial and stromal tumors, such as phyllodes tumors, except for the level of disease severity and malignancy. Treatment of giant fibroadenomas includes surgical resection. Surgical excision is done by complete excision of the fibroadenoma, with the rest of the breast tissue and the nipple-areolar complex preserved. Timely diagnosis can be helpful in the prevention of adverse outcomes. This is a case of a 40-year-old female who presented with a lump in her right breast, for which she underwent a wide local excision. On histopathology, it was found to be a giant fibroadenoma. Her postoperative recovery was uneventful.
PMID:38868246 | PMC:PMC11167588 | DOI:10.7759/cureus.60189
Breast Cancer Res Treat. 2024 Jun 8. doi: 10.1007/s10549-024-07378-8. Online ahead of print.
ABSTRACT
PURPOSE: Surgical excision is often performed to exclude phyllodes tumor (PT) when Core Needle Biopsy (CNB) of the breast returns fibroepithelial lesion-not further characterized (FEL-NFC). If imaging or CNB pathology features can be identified that predict a very low probability of borderline/malignant PT, thousands of women could be spared the expense and morbidity of surgical excisions.
METHODS: This retrospective cohort study includes 180 FEL-NFC from 164 patients who underwent surgical excisional biopsy.
RESULTS: The upgrade rate from FEL-NFC to benign PT was 15%, and to borderline/malignant PT 7%. Imaging features predicting upgrade to borderline/malignant PT included greater size (p = 0.0002) and heterogeneous echo pattern on sonography (p = 0.117). Histologic features of CNB predicting upgrade to borderline/malignant PT included "pathologist favors PT" (p = 0.012), mitoses (p = 0.014), stromal overgrowth (p = 0.006), increased cellularity (p = 0.0001) and leaf-like architecture (p = 0.077). A three-component score including size > 4.5 cm (Size), heterogeneous echo pattern on sonography (Heterogeneity), and stromal overgrowth on CNB (Overgrowth) maximized the product of sensitivity x specificity for the prediction of borderline/malignant PT. When the SHO score was 0 (72% of FEL-NFC) the probability of borderline/malignant PT on excision was only 1%.
CONCLUSION: The combination of size ≤ 4.5 cm, homogeneous echo pattern, and absence of stromal overgrowth is highly predictive of a benign excision potentially sparing most patients diagnosed with FEL-NFC the expense and morbidity of a surgical excision.
PMID:38851660 | DOI:10.1007/s10549-024-07378-8
Pathol Res Pract. 2024 Jul;259:155389. doi: 10.1016/j.prp.2024.155389. Epub 2024 Jun 2.
ABSTRACT
A female in her 60's presented with a left-sided breast mass. A core needle biopsy specimen showed diffuse proliferation of a round cell tumor, which was positive for vimentin, NKX2.2, BCOR, and focal CD99 on immunohistochemistry (IHC). No fusion genes of the Ewing family sarcomas were detected. With a tentative diagnosis of primary breast sarcoma (PBS), total mastectomy was performed after chemotherapy. The resected tissues showed proliferation of round or spindle-shaped tumor cells with a high nuclear-to-cytoplasmic ratio, exhibiting solid and fascicular arrangements but no epithelial component or organoid pattern. While IHC indicated no particular histological diagnosis, genomic examination revealed gene alterations in MED12 p.G44D, MLL2 (KMT2D) p.T1496fs*27, and EGFR variant III (vIII). Moreover, a retrospective IHC study showed overexpression of EGFRvIII. A malignant phyllodes tumor (PT) with extensive sarcomatous overgrowth was indicated as an integrative diagnosis. This is a rare case of a malignant PT harboring EGFRvIII. The present case provides an importance of accurate diagnosis and genomic analysis of rare breast tumors, as malignant PT and PBS are different in its treatment strategy and prognosis.
PMID:38850845 | DOI:10.1016/j.prp.2024.155389
F1000Res. 2024 May 28;13:210. doi: 10.12688/f1000research.145872.2. eCollection 2024.
ABSTRACT
BACKGROUND: Phyllodes tumor is a rare fibroepithelial neoplasm of the breast, which is classified histologically as benign, borderline, or malignant. Accurate preoperative diagnosis allows the correct surgical planning and reoperation avoidance.
OBJECTIVE: To describe the clinical presentation and radiologic features of phyllodes tumors and differentiate between benign and non-benign (borderline and malignant) groups.
METHODS: A retrospective study of 57 patients with a diagnosis of phyllodes tumor who had preoperative imaging (mammography, ultrasound, or CT chest) and histological confirmation. The data was collected from 1 June 2011 to 30 September 2021. The imaging features of the phyllodes tumors were described according to the 5th edition of the ACR BI-RADS lexicon. For comparing between two groups, the student t-test, Wilcoxon rank sum test, Chi-square test, and Fisher's exact test were used for statistical analyses. The logistic regression analysis was calculated for non-benign phyllodes tumor prediction.
RESULTS: From 57 patients, the pathologic results were benign for 43 cases and non-benign phyllodes tumors for 14 cases. There was no differentiation of mammographic and CT features between benign and non-benign groups. Non-benign phyllodes tumors had the statistical significance of menopausal status, entire breast involvement, tumor size larger than 10 cm, and heterogeneous echo on univariable analysis. After multivariable analysis, menopausal status (odd ratios=13.79, p=0.04) and presence of vessels in the rim (odd ratios=16.51, p=0.019) or absent vascularity (odd ratios=8.45, p=0.047) on doppler ultrasound were significantly increased possibility of non-benign phyllodes tumor.
CONCLUSIONS: Menopausal status and presence of vessels in the rim or absent vascularity on Doppler ultrasound were important predictors for the diagnosis of non-benign phyllodes tumor.
PMID:38845824 | PMC:PMC11153989 | DOI:10.12688/f1000research.145872.2
Cureus. 2024 May 5;16(5):e59677. doi: 10.7759/cureus.59677. eCollection 2024 May.
ABSTRACT
Histiocytic sarcoma (HS) is a rare cancerous tumor that originates from fully developed histiocytes. It is most often identified by the presence of certain proteins such as the cluster of differentiation (CD) 68, CD163, or lysozyme. HS has been recorded in different sites outside of the lymph nodes such as the gastrointestinal tract, nasal cavities, skin, and bone marrow. Because HS shares similar clinical features with other forms of malignant diseases, diagnosing it becomes incredibly challenging. We report a case of a 40-year-old female who presented with a breast mass for one year. A preliminary diagnosis of a phyllodes tumor was made. However, the morphology along with the immunophenotype picture was diagnostic for HS. Microscopic features showed a well-defined neoplastic growth arranged in sheets and fascicles. Diffuse immunoreactivity was seen for CD45, CD4, CD68, CD163, and vimentin. We present the important histopathological and immunohistochemical characteristics of the tumor in this case.
PMID:38836132 | PMC:PMC11149727 | DOI:10.7759/cureus.59677
Int J Surg Pathol. 2024 Jun 5:10668969241256112. doi: 10.1177/10668969241256112. Online ahead of print.
ABSTRACT
Phyllodes tumor is an uncommon breast fibroepithelial neoplasm mainly found in middle-aged patients, presenting a morphologic continuum from benign to malignant. Juvenile papillomatosis represents a rare benign proliferative breast tumor primarily affecting young individuals and carries a potential elevated risk of subsequent breast cancer development. Juvenile fibroadenoma is a well-circumscribed biphasic neoplasm that often occurs in adolescent girls, characterized by a pericanalicular growth pattern with usual-type epithelial hyperplasia and gynaecomastia-like micropapillary proliferation. Herein, we present an unusual example of a 26-year-old woman with a left breast outer lower quadrant palpable mass. Ultrasonography identified a 5.9 cm lobulated hypoechoic solid mass with scattered small cysts. The preoperative biopsy initially diagnosed a fibroepithelial lesion, considering giant cellular fibroadenoma and phyllodes tumor in the differential. Subsequent complete excision revealed areas of benign phyllodes tumor features closely admixed with distinctive elements such as prominent multiple cysts exhibiting apocrine and papillary apocrine metaplasia, duct papillomatosis, and duct stasis characteristic of juvenile papillomatosis, and hyperplastic ductal epithelium with micropapillary projections demonstrating a pericanalicular growth pattern indicative of juvenile fibroadenoma. The diagnosis was conclusively established as a fibroepithelial lesion with combined features of benign phyllodes tumor, juvenile papillomatosis, and juvenile fibroadenoma. Further investigation uncovered a family history of breast cancer. Molecular analysis revealed a pattern of unique and overlapping mutations within these distinct histopathological areas. This unusual presentation with hybrid features within a single tumor is described for the first time in the literature along with the molecular signature of the individual components.
PMID:38839253 | DOI:10.1177/10668969241256112
Clin Breast Cancer. 2024 May 15:S1526-8209(24)00119-8. doi: 10.1016/j.clbc.2024.05.006. Online ahead of print.
ABSTRACT
PURPOSE: To investigate whether a radiomics model based on mammography (MG) and magnetic resonance imaging (MRI) can be used to predict disease-free survival (DFS) after phyllodes tumor (PT) surgery.
METHOD: About 131 PT patients who underwent MG and MRI before surgery between January 2010 and December 2020 were retrospectively enrolled, including 15 patients with recurrence and metastasis and 116 without recurrence. 884 and 3138 radiomic features were extracted from MG and MR images, respectively. Then, multiple radiomics models were established to predict the recurrence risk of the patients by applying a support vector machine classifier. The area under the ROC curve (AUC) was calculated to evaluate model performance. After dividing the patients into high- and low-risk groups based on the predicted radiomics scores, survival analysis was conducted to compare differences between the groups.
RESULTS: In total, 3 MG-related and 5 MRI-related radiomic models were established; the prediction performance of the T1WI feature fusion model was the best, with an AUC value of 0.93. After combining the features of MG and MRI, the AUC increased to 0.95. Furthermore, the MG, MRI and all-image radiomic models had statistically significant differences in survival between the high- and low-risk groups (P < .001). All-image radiomics model showed higher survival performance than the MG and MRI radiomics models alone.
CONCLUSIONS: Radiomics features based on preoperative MG and MR images can predict DFS after PT surgery, and the prediction score of the image radiomics model can be used as a potential indicator of recurrence risk.
PMID:38839461 | DOI:10.1016/j.clbc.2024.05.006
J Surg Case Rep. 2024 May 28;2024(5):rjae342. doi: 10.1093/jscr/rjae342. eCollection 2024 May.
ABSTRACT
Giant phyllodes tumors, typically exceeding 10 cm in size, are neoplastic lesions with malignant potential. Surgical excision in small-breasted Asian women presents unique challenges where expected poor aesthetic outcomes may delay timely medical intervention. The periareolar mastopexy technique offers a comprehensive solution, enabling complete tumor removal alongside mastopexy to achieve optimal breast contouring. This approach consistently delivers favorable aesthetic outcomes, enhancing symmetry and contour. Additionally, the periareolar approach minimizes visible scarring, thereby enhancing patient satisfaction with the cosmetic outcome. Herein, we present a case report of Asian women with giant phyllodes tumors exceeding 10 cm, successfully managed using the periareolar mastopexy technique, emphasizing the importance of optimizing aesthetic outcomes in these challenging cases.
PMID:38812579 | PMC:PMC11132895 | DOI:10.1093/jscr/rjae342
Front Oncol. 2024 May 14;14:1394116. doi: 10.3389/fonc.2024.1394116. eCollection 2024.
ABSTRACT
SYNOPSIS: This is a systematic review and meta-analysis comparing surgical excision with percutaneous ultrasound-guided vacuum-assisted excision (US-VAE) for the treatment of benign phyllodes tumor (PT) using local recurrence (LR) as the endpoint.
OBJECTIVE: To determine the frequency of local recurrence (LR) of benign phyllodes tumor (PT) after ultrasound-guided vacuum-assisted excision (US-VAE) compared to the frequency of LR after surgical excision.
METHOD: A systematic review and meta-analysis [following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standard] was conducted by comparing LR in women older than 18 years treated for benign PT by US-VAE compared with local surgical excision with at least 12 months of follow-up. Studies were retrieved from PubMed, Scopus, Web of Science, and Embase. The pooled effect measure used was the odds ratio (OR) of recurrence.
RESULTS: Five comparative prospective or retrospective observational studies published between January 1, 1992, and January 10, 2022, comparing surgical excision with percutaneous US-VAE for LR of benign PT met the selection criteria. Four were retrospective observational cohorts, and one was a prospective observational cohort. A total of 778 women were followed up. Of them, 439 (56.4%) underwent local surgical excision, and 339 (43.6%) patients had US-VAE. The median age of patients in the five studies ranged from 33.7 to 39 years; the median size ranged from 1.5 cm to 3.0 cm, and the median follow-up ranged from 12 months to 46.6 months. The needle gauge ranged from 7G to 11G. LR rates were not statically significant between US-VAE and surgical excision (41 of 339 versus 34 of 439; OR 1.3; p = 0.29).
CONCLUSION: This meta-analysis suggests that using US-VAE for the removal of benign PT does not increase local regional recurrence and is a safe minimally invasive therapeutic option.
SYSTEMATIC REVIEW REGISTRATION: [https:] identifier CRD42022309782.
PMID:38807769 | PMC:PMC11130386 | DOI:10.3389/fonc.2024.1394116
Radiat Oncol. 2024 May 21;19(1):59. doi: 10.1186/s13014-024-02442-5.
ABSTRACT
PURPOSE: Malignant phyllodes tumor of the breast (MPTB) is a rare type of breast cancer, with an incidence of less than 1%. The value of adjuvant radiotherapy (RT) for MPTB has been controversial. The aim of the study was to explore the effect of radiotherapy on the long-term survival of female patients with MPTB at different ages.
METHODS: Female MPTB patients were selected from the Surveillance, Epidemiology, and End Results (SEER) database between 2000 and 2020. A Kaplan-Meier survival analysis was conducted to investigate the value of RT for the long-term survival of MPTB patients in different age groups. Additionally, univariate and multivariate Cox regression analyses were performed for overall survival (OS) and breast cancer-specific survival (BCSS) of MPTB patients. Furthermore, propensity score matching (PSM) was also performed to balance the differences in baseline characteristics.
RESULTS: 2261 MPTB patients were included in this study, including 455 patients (20.12%) with RT and 1806 patients (79.88%) without RT. These patients were divided into four cohorts based on their ages: 18-45, 46-55, 56-65, and 65-80. Before adjustment, there was a statistically significant difference in long-term survival between RT-treated and non-RT-treated patients in the younger age groups (age group of 18-45 years: OS P = 0.019, BCSS P = 0.016; age group of 46-55 years: OS P < 0.001, BCSS P < 0.001). After PSM, no difference was found in long-term survival of patients in both younger and older groups regardless of whether they received RT (age group of 18-45 years: OS P = 0.473, BCSS P = 0.750; age group of 46-55 years: OS P = 0.380, BCSS P = 0.816, age group of 56-65 years: OS P = 0.484, BCSS P = 0.290; age group of 66-80 years: OS P = 0.997, BCSS P = 0.763). In multivariate COX regression analysis, RT did not affect long-term survival in patients with MPTB.
CONCLUSION: There is no evidence that long-term survival of MPTB patients in specific age groups can benefit from RT.
PMID:38773616 | PMC:PMC11107058 | DOI:10.1186/s13014-024-02442-5
Case Rep Oncol Med. 2024 May 10;2024:6699698. doi: 10.1155/2024/6699698. eCollection 2024.
ABSTRACT
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spectrum in terms of tumor type and age of onset. Our patient has developed six asynchronous tumors to date: a phyllode tumor of the breast, a pheochromocytoma, a rosette-forming glioneuronal tumor (RGNT), an adrenocortical carcinoma (ACC), a ductal carcinoma of the breast, and a thymoma. The occurrence of such a number of rare tumors is sporadic even among in the population of patients living with cancer predisposition syndromes. In this instance, the omission of pretest genetic counseling and thorough family tree analysis prior to selecting the test led to the oversight of an underlying TP53 likely pathogenic mutation (classified as Class 4). This emphasizes the necessity for such counseling to prevent overlooking crucial genetic information. Neglecting this step could have had profound implications on the patient's treatment, particularly considering the early onset and occurrence of multiple tumors, which typically raise suspicion of a hereditary component. The implications for family members must be considered.
PMID:38765733 | PMC:PMC11101246 | DOI:10.1155/2024/6699698
Transl Oncol. 2024 Aug;46:101998. doi: 10.1016/j.tranon.2024.101998. Epub 2024 May 17.
ABSTRACT
Phyllodes tumors (PTs) has an increased risk of local relapse and distant metastases. Molecular features correlating to histologic grade and aggressive behavior of PTs are poorly characterized. Here, whole exome sequencing (WES) was performed to explore genetic mutations in 61 samples of fibroepithelial breast tumors, including 16 fibroadenomas (FAs), 18 benign PTs, 19 borderline PTs, and 8 malignant PTs. Our work clearly shows that FA, benign PT, borderline PT, and malignant PT are independent entities at the genomic level. They may exist as hidden sub-clones carrying specific genetic alterations. Malignant PT-specific mutations present a multi-gene co-mutational pattern suggesting a synergistic effect of co-mutated genes in processes associated with malignant behavior. Moreover, we made a combined genomic and transcriptomic analysis, which presented a mutated gene-based interaction with expression profiles. We found that EGFR mutations (c.710C > T, c.758A > G, c.1295A > G, and c.2156G > C) serve as a hub of interaction network in borderline PTs, which suggests EGFR tyrosine kinase inhibitors (EGFRi) might be effective for borderline PTs. We found TP53 mutations (c.730G > T, c.844C > T, and c.1019delA) serves as a hub event of molecular changes of malignant PTs. Thus, our study based on the omics platforms of genome and transcriptome provides a better understanding of relapse process and the potential targeted therapy in PTs, which is pivotal in improving molecular-guided patient selection and designing clinically relevant combination strategies.
PMID:38761630 | PMC:PMC11112002 | DOI:10.1016/j.tranon.2024.101998
Cureus. 2024 May 16;16(5):e60416. doi: 10.7759/cureus.60416. eCollection 2024 May.
ABSTRACT
Benign breast diseases are a common presentation in the breast clinic outpatient department. These diseases, including giant fibroadenoma, multiple fibroadenoma in different quadrants, and large or recurrent phyllodes tumors, pose challenges in surgical management. We present a case series of 16 patients aged 19 to 63 years (average age, 41.5 years) who presented with breast lumps and underwent surgery using the round block technique for benign breast diseases at our institute between November 2019 and March 2024. Prior to surgery, all patients had clinical, radiological, and pathological assessments. Age, duration of lump, and detailed menstrual, obstetric, and family history of each patient were recorded. Eight (50%) of the patients had phyllodes tumor, four (31.25%) had fibroadenoma, three (18.75%) had both fibroadenoma and phyllodes tumor, and one (6.25%) had adenolipoma. The average size of tumors was 7.5 cm in our study. During postsurgical follow-up, none of the patients had nipple areola necrosis, and they reported that nipple sensation was acceptable. A mastectomy was avoided in all circumstances. Good cosmetic outcomes and clear margin status are achievable using the round block technique.
PMID:38756709 | PMC:PMC11097613 | DOI:10.7759/cureus.60416
Transl Breast Cancer Res. 2023 Jul 30;4:19. doi: 10.21037/tbcr-23-37. eCollection 2023.
ABSTRACT
BACKGROUND: Phyllodes tumors are rare breast tumors comprising less than 1% of cases, categorized as benign, borderline, or malignant. Treatment typically involves complete surgical excision with wide margins. Adjuvant radiotherapy may be recommended for borderline or malignant tumors, or when clear margins cannot be achieved through surgery alone.
METHODS: We conducted a retrospective review of 14 women diagnosed with phyllodes tumors between 2015 and 2023. Among them, 36% had benign tumors and 64% had borderline/malignant tumors. The majority (86%) underwent breast-conserving surgery. Postoperative radiation therapy was delivered to the whole breast/chest wall, with a median biologically effective dose (BED) of 92.7 Gy (90.0-102.6 Gy), representing a moderate dose-escalation over conventional breast cancer schedules.
RESULTS: After a median follow-up of 48.5 months, no local or distant recurrence were observed. Mild to moderate skin toxicity occurred in all patients: 36% reported grade 1, 43% grade 2, and 21% grade 3 toxicity. One patient developed grade 2 fibrosis during follow-up. No significant correlations were found between the severity of acute/late toxicity and tumor size, surgical approach, or the radiation field's planning target volume (PTV).
CONCLUSIONS: Adjuvant radiation therapy appears to be well tolerated and feasible for high-risk phyllodes tumors. However, the decision to utilize radiotherapy should be personalized, considering tumor characteristics and the risks and benefits associated with treatment.
PMID:38751466 | PMC:PMC11093036 | DOI:10.21037/tbcr-23-37
Cureus. 2024 May 14;16(5):e60251. doi: 10.7759/cureus.60251. eCollection 2024 May.
ABSTRACT
Borderline phyllodes tumor is a rare and benign form of breast cancer with malignant potential. According to the World Health Organization (WHO), phyllodes tumor is classified into three categories: benign, borderline, and malignant. The treatment of phyllodes tumor is wide focal excision combined with radiotherapy and chemotherapy in certain cases. Herein, we report a 47-year-old female who presented with a giant borderline mass approximately 19.5 x 16.9 x 9.3 cm in size. From medical history, we noticed that the mass begun to develop during puberty. Wide focal excision of the tumor and immediate implant-based reconstruction with free nipple graft was performed, with the tumor specimen measuring 16.5 x 14.2 x 8.7 cm. Histological examination reported a borderline phyllodes tumor, and in this case, the patient did not undergo adjuvant treatment.
PMID:38751407 | PMC:PMC11094512 | DOI:10.7759/cureus.60251
Int J Surg Case Rep. 2024 Jun;119:109587. doi: 10.1016/j.ijscr.2024.109587. Epub 2024 Mar 28.
ABSTRACT
INTRODUCTION: Primary breast sarcoma (PBS), excluding phyllodes tumors, is an extremely rare and heterogeneous group of cancers, accounting for <1 % of all breast cancers. PBS is typically diagnosed in the fifth or sixth decades of life. There are no pathognomonic clinical or radiological features. Diagnosis is generally established through a microbiopsy. For young women, the diagnosis can be confused with a benign pathology.
CLINICAL PRESENTATION: Our patient was 27 years old, with no family or personal history of breast cancer, which was initially brought to the emergency department with a breast abscess. The clinical diagnosis of abscessed mastitis was made. The patient underwent tissue excision with evacuation of blood clots and necrotic tissue. Histopathological examination revealed a primary breast sarcoma. An MRI showed locally advanced retro-glandular tumor. An abdominal and pelvic CT scan performed showed no evidence of secondary locations. Therefore, the patient was referred for neoadjuvant radiotherapy and chemotherapy. After the third course of chemotherapy, the patient died following cardiogenic shock.
DISCUSSION: The PBS in younger women is extremely rare. The etiopathogenesis remains undetermined. The clinical and radiological characteristics of PBS mimic breast adenocarcinoma. Mastectomy is the treatment of choice but in the case of locally advanced tumor, the use of neoadjuvant chemotherapy can be indicated. PBS presents a significantly poorer prognosis.
CONCLUSION: Breast sarcomas are rare malignant tumors for which treatment protocols are not well-established. Further research efforts are needed to improve the understanding and treatment of PBS.
PMID:38749389 | PMC:PMC11109321 | DOI:10.1016/j.ijscr.2024.109587
Front Oncol. 2024 Apr 30;14:1382985. doi: 10.3389/fonc.2024.1382985. eCollection 2024.
ABSTRACT
Giant phyllodes tumors are rare fibroepithelial tumors that are usually larger than 10 cm in diameter, have rapid tumor growth, and are easily recurrent. They are frequently accompanied by skin necrosis and infection, particularly in malignant phyllodes tumors. This case report presents a 50-year-old woman who presented to the hospital with a huge left breast mass that was ruptured and infected. The patient received anti-infective treatment and underwent mastectomy and skin grafting, which indicated a malignant phyllodes tumor. The tumor was completely excised after a local recurrence in the chest wall 6 months post-surgery. Unfortunately, one year later, the patient pass away due to multiple organ failure. Giant phyllodes tumor management presents challenges to the surgeon. This case is being presented to enhance understanding and treatment of phyllodes tumors, specifically giant malignant phyllodes tumors, with the aim of improving patients' quality of life.
PMID:38746678 | PMC:PMC11091343 | DOI:10.3389/fonc.2024.1382985
Cureus. 2024 Apr 9;16(4):e57936. doi: 10.7759/cureus.57936. eCollection 2024 Apr.
ABSTRACT
In this comprehensive study, we present an exceptionally rare case characterized by the occurrence of multi-recurrent asynchronous bilateral malignant phyllodes tumors. Phyllodes tumors, known for their rapid growth, originate within the stromal tissue of the breast and predominantly manifest as benign entities. Our case stands out as an extraordinary anomaly, not only due to its bilateral malignant nature but also owing to the manifestation of a multi-recurrent pattern on both sides. This unprecedented presentation underscores the complexity and heterogeneity of malignant phyllodes tumors, necessitating further in-depth investigation to unravel the underlying mechanisms driving their aggressive behavior and to explore innovative therapeutic strategies aimed at optimizing patient outcomes and prognosis.
PMID:38738143 | PMC:PMC11084918 | DOI:10.7759/cureus.57936
AME Case Rep. 2024 Apr 2;8:39. doi: 10.21037/acr-23-84. eCollection 2024.
ABSTRACT
BACKGROUND: Phyllodes tumors (PTs) account for 0.3-1.0% of all breast tumors and often occur in women aged 35 to 55. They are similar to giant fibroadenomas. PTs are famous for local recurrence. No more than 10% of PTs grow larger than 10 cm. The National Comprehensive Cancer Network (NCCN) guidelines recommend extensive resection with a margin of ≥1 cm for PTs, which is much larger than that required for breast cancer. Positive resection margin is associated with recurrence. However, little is known about whether all subtypes really require radical tumor negative resection margins.
CASE DESCRIPTION: We report on a 49-year-old woman with a giant borderline PT in her left breast. The tumor was greater than 10.5 cm × 7.0 cm. She had a bilateral benign PT excision in January 2014 and a left benign PT excision in December 2018. A chest computerized tomography (CT) scan and abdomen ultrasound did not reveal distant metastasis. Therefore, left breast mastectomy was performed. Wound healing was satisfactory. Pathological and immunohistochemistry findings showed a borderline PT.
CONCLUSIONS: As the rare tumor of the breast, PTs pose a great challenge for surgeons. The initial evaluation of PTs relies on a triple evaluation of clinical, radiological, and histological examination. Local recurrence of PTs is more common than distant metastasis. The histology of recurrent tumors is usually identical to that of the primary tumor, or has a tendency to malignancy. Although most surgeons are uncomfortable with PTs with a positive margin, it is reasonable to adopt a "watchful waiting" strategy for benign PTs. The current recommendation that PTs should be extensively resected regardless of tumor size might be revised.
PMID:38711884 | PMC:PMC11070984 | DOI:10.21037/acr-23-84
Front Oncol. 2024 Apr 19;14:1372710. doi: 10.3389/fonc.2024.1372710. eCollection 2024.
ABSTRACT
BACKGROUND: Phyllodes tumors (PTs), which account for less than 1% of mammary gland tumors, composed of both epithelial and stromal components. If a malignant heterologous component is encountered, PT is considered malignant. Malignant phyllodes tumors (MPTs) only account for 8% to 20% of PTs. We report a case of MPT with osteosarcoma and chondrosarcoma differentiation and review the literature to discuss the differential diagnosis and therapy.
CASE PRESENTATION: A 59-year-old Chinese woman come to our hospital because of a palpable mass she had had for 1 months in the left breast. Preoperative core needle biopsy (CNB) was performed on the left breast mass on January 11, 2023. Pathological diagnosis was malignant tumor, the specific type was not clear. Mastectomy and sentinel lymph node biopsy of the left breast was performed. No metastasis was found in 3 sentinel lymph nodes identified by carbon nanoparticles and methylene blue double staining. Heterologous osteosarcoma and chondrosarcomatous differentiation of phyllodes tumor were observed. Immunohistochemistry: spindle tumor cells ER(-), PR(-), HER-2(-), CK-pan(-), CK7(-), CK8(-), SOX10(-), S100(-), and MDM2(-), CK5/6(-), P63(-), P40(-) were all negative. CD34:(+), SATB2(+), P53(90% strong), CD68 (+), Ki-67(LI: about 60%). No ductal carcinoma in situ was found in the breast. Fluorescence in situ hybridization (FISH) indicated USP6 was negatively expressed on formalin-fixed, paraffin-embedded (FFPE) tissue sections.
CONCLUSION: MPTs are rare, and heterologous differentiation in MPTs is exceedingly rare. It could be diagnosed by pathology when metaplastic carcinoma, primary osteosarcoma, or myositis ossificans were excluded. This case could help clinicians to improve the prognosis and treatment of this disease.
PMID:38706594 | PMC:PMC11066275 | DOI:10.3389/fonc.2024.1372710
Surg Case Rep. 2024 Apr 24;10(1):98. doi: 10.1186/s40792-024-01895-w.
ABSTRACT
BACKGROUND: The age of onset of the phyllodes tumor is generally in the late 40 s, and diagnosis and treatment during pregnancy and lactation are rare. We herein present a case of a phyllodes tumor that rapidly increased in size during the pregnancy and lactation period.
CASE PRESENTATION: A 39-year-old woman was referred to our hospital with a mass in the right breast that increased in size during the pregnancy and lactation period. On ultrasound (5 week postpartum), a well-defined lobulated mass with internal septations and fluid retention was observed. Magnetic resonance imaging of the breast at 8 week postpartum revealed a 70-mm-sized smooth-margin mass with multilocular cystic components. Marked proliferation of stromal cells with high cell density was observed in a biopsy specimen taken at the previous hospital. We diagnosed the mass as a phyllodes tumor of borderline malignancy and excised it at 13 week postpartum. The excised tumor was 85 mm in diameter and its interior was filled with a milk-like substance. Histologically, there was only a mild increase in stromal cell density but fibrosis with associated degeneration was prominent. The final diagnosis was benign phyllodes tumor with degeneration.
CONCLUSIONS: We report a case of a phyllodes tumor that rapidly increased in size during pregnancy and the lactation period. The accumulation of a milk-like substance was thought to be responsible for the rapid growth of the tumor.
PMID:38656672 | PMC:PMC11043237 | DOI:10.1186/s40792-024-01895-w
Acta Cytol. 2024;68(2):145-152. doi: 10.1159/000538071. Epub 2024 Mar 29.
ABSTRACT
INTRODUCTION: Cancer genome analysis using next-generation sequencing requires adequate and high-quality DNA samples. Genomic analyses were conventionally performed using formalin-fixed paraffin-embedded sections rather than cytology samples such as cell block or smear specimens. Specimens collected from liquid-based cytology (LBC) have the potential to be sources of high-quality DNA suitable for genetic analysis even after long-term storage.
METHODS: We collected breast tumor/lesion fractions from 92 residual LBC specimens using fine-needle aspiration (FNA) biopsy, including breast carcinoma (1 invasive carcinoma and 4 ductal carcinomas in situ), papillomatous lesion (5 intraductal papillomas), and fibroepithelial lesion (19 phyllodes tumors and 53 fibroadenomas) samples, and others (1 ductal adenoma, 1 hamartoma, 1 fibrocystic disease, and 7 unknown). DNA was extracted from all samples and subjected to DNA integrity number (DIN) score analysis.
RESULTS: Average DIN score collected from 92 LBC specimens was significantly higher score. In addition, high-quality DNA with high DIN values (7.39 ± 0.80) was successfully extracted more than 12 months after storage of residual LBC specimens.
CONCLUSION: Residual LBC specimens collected from FNA of the breast were verified to carry high-quality DNA and could serve as an alternate source for genetic analysis.
PMID:38555634 | DOI:10.1159/000538071
Breast Dis. 2024;43(1):51-59. doi: 10.3233/BD-230037.
ABSTRACT
AIM: To retrospectively study the therapeutic modalities of primary breast sarcomas in view of the data of a local Tunisian experience.
METHODS: It is a monocentric, descriptive, retrospective study including 13 cases of primary breast sarcoma treated over a period of 25 years (1995-2020) in the oncological radiotherapy department of a university hospital in Sousse, Tunisia.
RESULTS: In our study, 13 cases of non-metastatic breast sarcomas that has been identified, divided into ten cases of phyllodes sarcomas and three cases of non-phyllodes sarcomas.Surgically, all our patients had a mastectomy. Among them, seven underwent a lymph node procedure: five underwent axillary lymph node dissection, and two others had primary axillary lymph node biopsy. For the adjuvant treatment, all the patients included in our study received radiotherapy and seven received chemotherapy. Local recurrence occurred on the operative scar in one patient after completion of radiation therapy. Metastatic relapse was described in five patients. The time to onset of metastases varied between two months and five years. Nevertheless, a complete remission was noted in 6 patients with a follow-up varying from four years to 20 years. Two patients were lost to follow-up.
CONCLUSION: Breast sarcomas remain a very rare entity of aggressive tumors.The therapeutic approach is poorly codified. For this reason, the therapeutic decision should always be discussed in a multidisciplinary assessment.
PMID:38552108 | PMC:PMC11091577 | DOI:10.3233/BD-230037
Adv Radiat Oncol. 2024 Jan 26;9(5):101448. doi: 10.1016/j.adro.2024.101448. eCollection 2024 May.
NO ABSTRACT
PMID:38550370 | PMC:PMC10965428 | DOI:10.1016/j.adro.2024.101448
BMJ Case Rep. 2024 Mar 19;17(3):e258352. doi: 10.1136/bcr-2023-258352.
ABSTRACT
A young woman in her 20s was found to have a left breast malignant phyllodes tumour by ultrasound-guided core needle biopsy, after identifying a palpable lump. She then underwent lumpectomy excision with >1 cm gross margins; however, final pathology demonstrated <1 cm margins at the superior margin. She then underwent re-excision of superior and medial margins to ensure at least a 1 cm margin. Biopsy tract was not excised at initial or re-excision surgery. Approximately 6 weeks after completion lumpectomy, the patient noted a new palpable mass near the previous biopsy site and underwent punch biopsy. Final pathology of this new mass was concordant with early recurrence. The patient then underwent lumpectomy of the new mass along with excision of the overlying skin and biopsy tract with >1 cm margins.
PMID:38508594 | PMC:PMC10952906 | DOI:10.1136/bcr-2023-258352
Clin Transl Med. 2024 Mar;14(3):e1611. doi: 10.1002/ctm2.1611.
ABSTRACT
BACKGROUND: Breast phyllodes tumours (PTs) are a unique type of fibroepithelial neoplasms with metastatic potential and recurrence tendency. However, the precise nature of heterogeneity in breast PTs remains poorly understood. This study aimed to elucidate the cell subpopulations composition and spatial structure and investigate diagnostic markers in the pathogenesis of PTs.
METHODS: We applied single-cell RNA sequencing and spatial transcriptomes on tumours and adjacent normal tissues for integration analysis. Immunofluorescence experiments were conducted to verify the tissue distribution of cells. Tumour cells from patients with PTs were cultured to validate the function of genes. To validate the heterogeneity, the epithelial and stromal components of tumour tissues were separated using laser capture microdissection, and microproteomics data were obtained using data-independent acquisition mass spectrometry. The diagnostic value of genes was assessed using immunohistochemistry staining.
RESULTS: Tumour stromal cells harboured seven subpopulations. Among them, a population of widely distributed cancer-associated fibroblast-like stroma cells exhibited strong communications with epithelial progenitors which underwent a mesenchymal transition. We identified two stromal subpopulations sharing epithelial progenitors and mesenchymal markers. They were inferred to further differentiate into transcriptionally active stromal subpopulations continuously expressing COL4A1/2. The binding of COL4A1/2 with ITGA1/B1 facilitated a growth pattern from the stroma towards the surrounding glands. Furthermore, we found consistent transcriptional changes between intratumoural heterogeneity and inter-patient heterogeneity by performing microproteomics studies on 30 samples from 11 PTs. The immunohistochemical assessment of 97 independent cohorts identified that COL4A1/2 and CSRP1 could aid in accurate diagnosis and grading.
CONCLUSIONS: Our study demonstrates that COL4A1/2 shapes the spatial structure of stromal cell differentiation and has important clinical implications for accurate diagnosis of breast PTs.
PMID:38481388 | PMC:PMC10938066 | DOI:10.1002/ctm2.1611
BMJ Case Rep. 2024 Mar 7;17(3):e258616. doi: 10.1136/bcr-2023-258616.
ABSTRACT
We present a case of a transwoman taking hormonal feminisation therapy for over 20 years, who underwent surgical excision of a benign phyllodes tumour of the breast. Hormones progesterone and oestrogen act on breast epithelium to increase proliferation. For ciswomen, endogenous and exogenous oestrogen exposure over a lifetime is associated with increased risk for certain benign and malignant breast pathologies. Transwomen taking hormonal therapy may also be at an increased risk of breast disease.
PMID:38453219 | PMC:PMC10921526 | DOI:10.1136/bcr-2023-258616
J Breast Imaging. 2023 Feb 6;5(1):93-95. doi: 10.1093/jbi/wbac073.
NO ABSTRACT
PMID:38416965 | DOI:10.1093/jbi/wbac073
Clin Transl Oncol. 2024 Jul;26(7):1804-1805. doi: 10.1007/s12094-024-03407-6.
NO ABSTRACT
PMID:38416315 | DOI:10.1007/s12094-024-03407-6
J Ayub Med Coll Abbottabad. 2023 Jul-Sep;35(3):510-511. doi: 10.55519/JAMC-03-11586.
ABSTRACT
Phyllodes tumour (PT) comprises 0.3-1% of all breast cancers and 3% of fibroepithelial neoplasm. It occurs more commonly in the fourth and fifth decades of life. Fibroepithelial neoplasms are composed of cell types with two different origins, commonly mesenchymal and epithelial. Histological features are important as this forms the basis of the categorization of PT into benign, borderline and malignant types, thus facilitating management. Metaplasia in any of the two components of PT is rare and the cystic squamous type of metaplasia has even more infrequent histological features. Case: This paper presents the case of a 63-year-old female with a palpable lump in the lower outer quadrant of her left breast. Histology showed a benign Phyllodes tumour with patchy, cystic squamous metaplasia within the lesion, keratin production and foreign-body reaction in response to keratin spillage. The previously done core biopsy was also reviewed, which showed focal stromal cell condensation and features overlapping between benign and borderline phyllodes tumours. Conclusion: The case was presented because of its unique and rare histological picture of Cystic squamous metaplasia in benign PT and a further rarer finding of foreign body reaction to keratin spillage.
PMID:38404106 | DOI:10.55519/JAMC-03-11586
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_355_23. Online ahead of print.
ABSTRACT
The breast can be affected by a variety of specific and unique disorders during pregnancy and lactation. One of these disorders is spontaneous infarction of the breast which is a rare condition seen in physiologically hyperplastic mammary tissue associated with pregnancy and lactation. The causes and mechanism of the development of breast infarct remain largely unknown. Only 25 cases of breast infarct have been reported in the English literature. Phyllodes tumor is uncommon in pregnant women, and to date, only one report of spontaneous infarction of the phyllodes tumor has been reported in a postpartum woman. In this report, we describe the first case of coexistent infarction of the hyperplastic breast parenchyma with infarction of phyllodes tumor in a 25-year-old female.
PMID:38394424 | DOI:10.4103/ijpm.ijpm_355_23
Cureus. 2024 Jan 23;16(1):e52775. doi: 10.7759/cureus.52775. eCollection 2024 Jan.
ABSTRACT
Ruptured phyllodes tumors, though extremely rare, can necessitate emergency surgery in certain cases, particularly those with active bleeding. A 51-year-old woman presented to our hospital with a newly identified mass in her right breast that developed over the past two months. The tumor had ruptured through the paramammary nipple. While initially diagnosed with a phyllodes tumor and scheduled for elective surgery, she experienced active bleeding from the ruptured tumor, leading to a drop in hemoglobin levels. An emergency right simple mastectomy was performed to control the bleeding. Postoperatively, no complications or recurrences were observed. Phyllodes tumors, which are characterized by rapid growth, may present with active bleeding following rupture and may require emergency surgery.
PMID:38389604 | PMC:PMC10882246 | DOI:10.7759/cureus.52775
BMJ Case Rep. 2024 Feb 22;17(2):e255750. doi: 10.1136/bcr-2023-255750.
ABSTRACT
Primary soft tissue sarcomas of the breast are rare aggressive neoplasms. These often are misdiagnosed with other more common neoplasms like fibroepithelial malignancies, namely phyllodes tumour and metaplastic carcinoma. Being uncommon, chances of being misdiagnosed are higher leading to early mortality. A multidisciplinary team incorporating surgery, pathology, chemotherapy and radiotherapy is required to formulate an approach to primary soft tissue sarcoma. Generally, these tumours may show single or dual phenotype; we present one rare case report showing multiphenotypic differentiation.
PMID:38388202 | PMC:PMC10884258 | DOI:10.1136/bcr-2023-255750
Oncol Res Treat. 2024;47(4):145-148. doi: 10.1159/000537956. Epub 2024 Feb 21.
ABSTRACT
INTRODUCTION: Phyllodes tumors belong to uncommon fibroepithelial breast tumors with a range of biological behaviors. Phyllodes tumors are responsible for less than 1 percent of all neoplasms of the breast.
CASE PRESENTATION: A 66-year-old woman presented to our Breastcancer Unit in March 2021 because of a huge mass of her left breast with bleeding out of a tumor necrosis. Five years ago in 2016, a benign phyllodes tumor was diagnosed externally. When we started the treatment, the tumor had a weight of 18.6 kg.
CONCLUSION: We describe the surgical management and the systemic treatment of metastatic disease.
PMID:38382477 | DOI:10.1159/000537956
Int J Surg Case Rep. 2024 Mar;116:109196. doi: 10.1016/j.ijscr.2023.109196. Epub 2023 Dec 24.
ABSTRACT
INTRODUCTION AND IMPORTANCE: This case report presents a rare occurrence of multiple bilateral breast fibroadenomas, one evolving into ductal carcinoma in situ (DCIS) and invasive carcinoma, occurring simultaneously with a benign phyllodes tumor in the same breast. The importance of this case lies in emphasizing the crucial need for surveillance in patients with a long history of fibroadenomas and the necessity to investigate any rapid change in the size of fibroadenoma.
CASE PRESENTATION: A 35-year-old multiparous female with a 17 year history of bilateral multiple breast lumps presented with recent onset of right breast pain and yellowish nipple discharge. Two lumps in her right breast had demonstrated an increase in size. Examination revealed a significant mass in the retroareolar region of the right breast and another at the 2 o'clock position. Histopathological examination of the biopsy specimens revealed fibroadenoma and benign phyllodes tumor. The patient underwent a bilateral breast lumpectomy. Further histopathological examination revealed ductal carcinoma in situ and invasive carcinoma within a complex fibroadenoma in the right breast and benign phyllodes tumor. Sentinel lymph node biopsy was negative. She had adjuvant radiations and trastuzumab. Regular follow-ups show no recurrence.
CLINICAL DISCUSSION: Fibroadenomas are usually benign but rarely undergo malignant change. Quick response to size changes and early detection greatly enhance patient results.
CONCLUSION: Ductal carcinoma in situ and invasive breast cancer, a rare malignancy found within a fibroadenoma, necessitates histopathological specimens and immunohistochemical results for accurate diagnosis. Survival rates are significantly enhanced through a multidisciplinary approach.
PMID:38368667 | PMC:PMC10964463 | DOI:10.1016/j.ijscr.2023.109196
Eur J Cancer. 2024 Apr;201:113924. doi: 10.1016/j.ejca.2024.113924. Epub 2024 Feb 10.
ABSTRACT
AIM: The aim of our study is to analyze patterns in treatment and outcome in a population-based series of patients with borderline and malignant phyllodes tumors (PT).
MATERIAL AND METHODS: Data on all patients with a borderline or malignant PT (1989-2020) were extracted from the Netherlands Cancer Registry and the Dutch nationwide pathology databank (Palga) and retrospectively analyzed.
RESULTS: We included 921 patients (borderline PT n = 452 and malignant PT n = 469). Borderline PT patients more often had breast-conserving surgery (BCS) as final surgery (81 vs. 46%). BCS rates for borderline PT increased over time (OR 1.08 per year, 95%CI 1.04 - 1.13, P < 0.001). In malignant PT adjuvant radiotherapy was given in 14.7%; this rate increased over time (OR 1.07 per year, 95%CI 1.02 - 1.13, P = 0.012). Local recurrence rate (5-year estimate of cumulative incidence) was 8.7% (95%CI 6.0-11.4) for borderline PT and 11.7% (95%CI 8.6-14.8) for malignant PT (P = 0.187) and was related to tumor size ≥ 20 mm (HR 10.6 (95%CI 1.5-76.8) and positive margin (HR 3.0 (95%CI 1.6-5.6), p < 0.001), but not to negative margin width (HR 1.3 ( 95%CI 0.7-2.3), p = 0.350)). Distant metastasis occurred only in malignant PT with a 5-year cumulative incidence of 4.7% (95%CI 3.3 - 6.1).
CONCLUSION: This population-based series showed an increase in BCS in borderline PT and an increase in adjuvant radiotherapy in malignant PT over time. We identified malignant PT, BCS, larger tumor size and positive final margins as possible risk factors for local recurrence. Small but negative margins can be accepted.
PMID:38364628 | DOI:10.1016/j.ejca.2024.113924
Indian J Pathol Microbiol. 2024 Jan-Mar;67(1):223-225. doi: 10.4103/ijpm.ijpm_925_22.
ABSTRACT
Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination. Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination.
PMID:38358228 | DOI:10.4103/ijpm.ijpm_925_22
Case Rep Oncol. 2024 Feb 8;17(1):217-224. doi: 10.1159/000536125. eCollection 2024 Jan-Dec.
ABSTRACT
INTRODUCTION: Spindle cell sarcomas are rare breast lesions which are difficult to diagnose due to resemblance with other breast lesions. Histopathological examination and immunohistochemical staining are essential for diagnosis.
CASE PRESENTATION: We present a rare case of a 15-year-old female presenting with high-grade rapidly progressive spindle cell sarcoma of the breast, differentiated as phyllodes tumor, with axillary lymph node involvement. Her lesion, on the left breast, measured 16.9 × 10.1 × 13.7 cm. Histology revealed malignant neoplasm arranged in sheets and individual neoplastic cells with an epithelioid to spindled morphology with scant cytoplasm and irregular nuclear membranes. Immunohistochemistry showed weakly positive focal CD-99, and negative WT-1, Myogenin, Desmin, p63, Cytokeratin, Synaptophysin, and CD-34 markers. She was successfully managed with modified radical mastectomy and discharged with regular follow-up advised.
CONCLUSION: Spindle cell sarcomas have a very aggressive course and prompt diagnosis, and management is mandatory for better patient outcomes. Modified radical mastectomy is the mainstay of treatment.
PMID:38333631 | PMC:PMC10852984 | DOI:10.1159/000536125
BMJ Case Rep. 2024 Feb 6;17(2):e259290. doi: 10.1136/bcr-2023-259290.
ABSTRACT
Fibroadenomas are the most common breast lesion in women of reproductive age. During pregnancy and lactation, fibroadenomas can undergo rapid growth in response to hormonal stimulus. These changes may prompt further investigation and/or intervention due to the risk of an underlying phyllodes tumour. We present a case of a female patient who underwent surgical excision of a giant fibroepithelial lesion at 4 months post partum while continuing to breastfeed. The lesion was successfully excised while maintaining lactation. A postoperative milk fistula resolved with non-operative management. There is limited literature on the surgical management of breast lesions in lactating women. This case illuminates the surgical management of breast lesions in an often well informed group of patients who may choose to have surgery while lactating in spite of the increased risk of complications. This case also highlights the need for a holistic approach to maintain the overall health of mother and child.
PMID:38320829 | PMC:PMC10860019 | DOI:10.1136/bcr-2023-259290
Front Oncol. 2024 Jan 19;13:1268617. doi: 10.3389/fonc.2023.1268617. eCollection 2023.
ABSTRACT
BACKGROUND: Myeloid sarcoma (MS) is a rare hematological malignancy characterized by the formation of a solid mass of myeloblasts outside the bone marrow, such as in the lymph nodes, skin, or bone. MS may arise de novo or concurrently with acute myeloid leukemia (AML), myeloproliferative neoplasm (MPN), or myelodysplastic syndrome (MDS). MS accounts for less than 1% of extramedullary acute myeloid leukemia cases. Phyllodes tumors (PTs) are a rare fibroepithelial breast tumor that can be benign, malignant, or borderline, and account for less than 1% of all breast cancers.
CASE PRESENTATION: We present a unique case of a 50-year-old woman with both breast MS and borderline PT with malignant features, which presented a diagnostic challenge. The patient initially presented with a mass in her right breast, and the initial fine-needle biopsy revealed the presence of immature myeloperoxidase (MPO)+ myeloid cells consistent with MS. Subsequent pathological analysis of tumor tissues after neoadjuvant radiotherapy and chemotherapy showed a borderline PT with malignant features. Following excision of the tumor, the patient experienced a local recurrence, which was also surgically removed. At 8 months post-surgery, the patient remains free of recurrence under close follow-up.
CONCLUSION: This case highlights the importance of considering the possibility of concurrent malignancies in the differential diagnosis of complex breast masses and underscores the challenges involved in diagnosing and managing such cases. Additionally, we also emphasize the value of neoadjuvant radiotherapy and chemotherapy in MS.
PMID:38313212 | PMC:PMC10834766 | DOI:10.3389/fonc.2023.1268617
Heliyon. 2024 Jan 18;10(2):e24803. doi: 10.1016/j.heliyon.2024.e24803. eCollection 2024 Jan 30.
ABSTRACT
Proliferation of both stromal and epithelial components is a characteristic of fibroepithelial cancers of the breast. Certain fibroepithelial tumors of the breast, such as fibradenomas and phyllodes tumors, are challenging to distinguish and categorize. To find biomarkers for early diagnosis and improved disease management, it is crucial to deepen our understanding of the molecular pathogenesis pathways and tumor biology of PTs. It has been demonstrated that microRNAs (miRNAs) have significant roles in cancers; the expression pattern of miRNAs can help with cancer categorization and treatment. In contrast, little is understood about miRNAs in breast fibroepithelial cancers. This study was conducted retrospectively with the goal of assessing the expression of six mature miRNAs (hsa-miR-21, hsa-miR-155, hsa-miR-182, hsa-miR-34a, hsa-miR-148a, and hsa-miR-205) in breast fibroepithelial cancers using real-time PCR and predicting these miRNAs' targets using computational techniques. This study comprised 64 patients in total-55 with phyllodes tumors and 9 with fibroadenoma. The research was carried out at the Farhat Hached University Hospital's pathology department in Tunisia. These particular miRNAs expression levels were evaluated via qRT-PCR, and in silico techniques were utilized to predict potential miRNA targets. Analysis of miRNA expression in fibroadenoma and phyllodes tumor tissues revealed that miR-21, miR-155 and miR-182 were upregulated in PTs compared to fibroadenoma and normal tissues. We reported that miR-34a, miR-148a and miR-205 were downregulated in both borderline and malignant PTs compared to fibroadenoma and normal tissue. In silico miRNA target prediction suggested the involvement of these molecules in a wide context of cell signaling pathways.
PMID:38312609 | PMC:PMC10835222 | DOI:10.1016/j.heliyon.2024.e24803
Int J Surg Pathol. 2024 Feb 1:10668969241228287. doi: 10.1177/10668969241228287. Online ahead of print.
NO ABSTRACT
PMID:38303558 | DOI:10.1177/10668969241228287
Gan To Kagaku Ryoho. 2023 Dec;50(13):1618-1620.
ABSTRACT
Phyllodes tumors are uncommon breast neoplasms that constitute 1-2% of breast malignancies. Invasive ductal carcinoma in the epithelial component of phyllodes tumor is very rare. When carcinoma is detected within the specimen, the management of treatment changes completely. We report a rare case of invasive ductal carcinoma arising in a giant borderline malignancy phyllodes tumor in a 51-year-old female patient. A painful 20 cm mass was found in her right breast, and a needle biopsy revealed fibroadenoma or benign phyllodes tumor, and a total mastectomy was performed. Pathological results showed that a borderline malignant phyllodes tumor coexisted with invasive ductal carcinoma. We explained that axillary surgery was necessary because invasive cancer was diagnosed after surgery, but the patient requested follow-up using images. Endocrine therapy was performed as postoperative adjuvant therapy, and the follow-up is underway without recurrence.
PMID:38303360
Gan To Kagaku Ryoho. 2023 Dec;50(13):1399-1401.
ABSTRACT
The patient is a 39-year-old woman. At the age of 34, she recognized a 22 mm sized mass in the upper outer quadrant of her right breast, which was diagnosed as a fibroadenoma. 5 years later, the mass increased to 45 mm. We performed lumpectomy which led to a diagnosis of a malignant phyllodes tumor with osteogenic sarcoma. Since the resection margins were positive, we performed mastectomy in addition. Nine months after surgery, a 23 mm large mass appeared on the right fifth costal. Recurrence of malignant phyllodes was suspicious from cytological diagnosis and since thoracoabdominal CT showed no metastasis to other organs, we performed resection. Histological results were the same as the primary tumor. Two months more later, an 11 mm large mass revealed in the right anterior thoracic region. We performed resection again, which showed the same histological features as the primary tumor. Since malignant phyllodes tumors often recur in the early postoperative period, a close follow-up is recommended.
PMID:38303287
Gan To Kagaku Ryoho. 2023 Dec;50(13):1733-1735.
ABSTRACT
A 62-year-old woman was diagnosed with right breast tumor 2 years ago, which she refused to undergo surgery. The patient experienced a rapid enlargement of the mass over the past 1 month, and visited hospital. The patient was diagnosed with a borderline phyllodes tumor by needle biopsy. Her right breast was occupied by an 18 cm mass. We conducted tumor resection and immediate reconstruction with DIEAP flap. The pathological diagnosis was a malignant phyllodes tumor, and the postoperative radiation to the chest wall was performed. During a year and a half follow up, she has no recurrence and highly satisfied with the reconstructed breast. Phyllodes tumors may recur locally regardless of whether they are benign or malignant, and we need strict follow-up.
PMID:38303189
J Pathol. 2024 Apr;262(4):480-494. doi: 10.1002/path.6250. Epub 2024 Feb 1.
ABSTRACT
Phyllodes tumours (PTs) are rare fibroepithelial lesions of the breast that are classified as benign, borderline, or malignant. As little is known about the molecular underpinnings of PTs, current diagnosis relies on histological examination. However, accurate classification is often difficult, particularly for distinguishing borderline from malignant PTs. Furthermore, PTs can be misdiagnosed as other tumour types with shared histological features, such as fibroadenoma and metaplastic breast cancers. As DNA methylation is a recognised hallmark of many cancers, we hypothesised that DNA methylation could provide novel biomarkers for diagnosis and tumour stratification in PTs, whilst also allowing insight into the molecular aetiology of this otherwise understudied tumour. We generated whole-genome methylation data using the Illumina EPIC microarray in a novel PT cohort (n = 33) and curated methylation microarray data from published datasets including PTs and other potentially histopathologically similar tumours (total n = 817 samples). Analyses revealed that PTs have a unique methylome compared to normal breast tissue and to potentially histopathologically similar tumours (metaplastic breast cancer, fibroadenoma and sarcomas), with PT-specific methylation changes enriched in gene sets involved in KRAS signalling and epithelial-mesenchymal transition. Next, we identified 53 differentially methylated regions (DMRs) (false discovery rate < 0.05) that specifically delineated malignant from non-malignant PTs. The top DMR in both discovery and validation cohorts was hypermethylation at the HSD17B8 CpG island promoter. Matched PT single-cell expression data showed that HSD17B8 had minimal expression in fibroblast (putative tumour) cells. Finally, we created a methylation classifier to distinguish PTs from metaplastic breast cancer samples, where we revealed a likely misdiagnosis for two TCGA metaplastic breast cancer samples. In conclusion, DNA methylation alterations are associated with PT histopathology and hold the potential to improve our understanding of PT molecular aetiology, diagnostics, and risk stratification. © 2024 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
PMID:38300122 | DOI:10.1002/path.6250
Clin Oncol (R Coll Radiol). 2024 Jan;36(1):e31-e39. doi: 10.1016/j.clon.2023.10.050. Epub 2023 Oct 21.
ABSTRACT
AIMS: Phyllodes tumours and breast sarcomas are uncommon tumours and their rarity poses significant challenges in diagnosis and management. This cross-sectional study was conducted to evaluate the multidisciplinary clinical practice for these tumours across the UK and Ireland, with the aim of identifying gaps in knowledge and providing direction for establishing national guidelines.
MATERIALS AND METHODS: An international survey was adapted and circulated to breast and/or sarcoma surgeons and oncologists in the UK and Ireland through national organisations. Multidisciplinary team (MDT) responses were analysed anonymously.
RESULTS: Twenty-eight MDTs participated in this study, predominately from high-volume units (85.5%). Although only 43% of the surveyed units were part of a trust that holds a sarcoma MDT, 68% of units managed malignant phyllodes and angiosarcoma, whereas 64.5% managed soft-tissue sarcoma of the breast. Across all subtypes, axillary surgery was recommended by 14-21% of the MDTs and the most recommended resection margins for breast surgery were 'no tumour on ink' in benign phyllodes (39%) and 10 mm in the remaining subtypes (25-29%). Immediate breast reconstruction was supported by 11-18% of MDTs for breast sarcoma subtypes, whereas 36% and 32% advocated this approach in benign and borderline phyllodes tumours, respectively. Adjuvant radiotherapy and chemotherapy were recommended by up to 29% and 11% of the MDTs, respectively.
CONCLUSION: The results of this study demonstrate a wide variation in clinical practice across the surveyed MDTs. As only 28 MDTs participated in our study, with under-representation from low-volume units, our results might be an underestimation of the variability in practice across the UK and Ireland. This multi-institutional study sheds light on controversial aspects in the management of phyllodes tumours and breast sarcoma, identifies the need for national guidelines to inform best practice, and calls for the centralisation of the management of breast sarcoma within specialist centres.
PMID:38294995 | DOI:10.1016/j.clon.2023.10.050
J Cytol. 2024 Jan-Mar;41(1):13-17. doi: 10.4103/joc.joc_88_23. Epub 2023 Dec 28.
ABSTRACT
INTRODUCTION: Fine-needle aspiration cytology (FNAC) is often used as a screening tool. Cytopathologist should be aware of various mimickers of the malignancy. One of these is infarction of benign breast lesions. Careful examination of cytomorphological features will avoid the misdiagnosis of malignancy in such cases.
MATERIAL AND METHODS: Six cases were diagnosed as benign breast lesion for 4 years and 5 months in our newly established tertiary referral center. Histopathology follow-up was available in one case.
RESULTS: Of six cases, three cases (50%) were reported as fibroadenoma with infarction, two cases (33%) as benign breast lesion with infarction favor fibroadenoma, and one as breast lesion with infarction favor phyllodes tumor in view of recurrence. Most were in the second or third decade of their life. All cases showed dyscohesive cells with pyknotic nuclei. Monolayered sheets of necrotic cells were seen in the four cases (66%). Viable cells were seen in four cases.
CONCLUSIONS: FNAC provides a rapid and accurate diagnosis of benign breast lesions with infarction in the hands of experienced pathologists who can help in better patient care. Small-sized uniform pyknotic nuclei of dyscohesive cells and regular nuclear membranes help to differentiate them from inflammatory and malignant lesions.
PMID:38282816 | PMC:PMC10810073 | DOI:10.4103/joc.joc_88_23