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Surgical Pathology Clinics Sep 2017Myoepithelial tumors (METs) of bone (BMETs) are a rare but distinct tumor entity. METs that are cytologically benign are termed myoepitheliomas; METs with malignant... (Review)
Review
Myoepithelial tumors (METs) of bone (BMETs) are a rare but distinct tumor entity. METs that are cytologically benign are termed myoepitheliomas; METs with malignant histologic features are called myoepithelial carcinomas. BMETs have a wide age range, may involve any part of the skeleton, and have a variable spindle cell and epithelioid morphology. Bone tumors to be considered in the differential diagnosis are discussed. Additional techniques are indispensable to correctly diagnose BMETs. By immunohistochemistry, BMETs often express cytokeratins and/or EMA together with S100, GFAP, or calponin. Half of BMETs harbor EWSR1 (or rare FUS) gene rearrangements with different gene partners.
Topics: Biomarkers, Tumor; Bone Neoplasms; Calcium-Binding Proteins; Diagnosis, Differential; Gene Rearrangement; Glial Fibrillary Acidic Protein; Humans; Immunohistochemistry; Keratins; Microfilament Proteins; Myoepithelioma; RNA-Binding Protein EWS; rab GTP-Binding Proteins; Calponins
PubMed: 28797507
DOI: 10.1016/j.path.2017.04.010 -
Clinical & Translational Oncology :... Nov 2015Salivary gland myoepithelial carcinoma (MC) or malignant myoepithelioma is a rare entity. MC usually presents as a slow-growing painless mass arising in the parotid... (Review)
Review
Salivary gland myoepithelial carcinoma (MC) or malignant myoepithelioma is a rare entity. MC usually presents as a slow-growing painless mass arising in the parotid gland, but may involve other salivary glands. This tumour may be particularly locally aggressive, but its clinical and biological features are not yet fully understood. MC may arise from pre-existing benign lesions, such as pleomorphic adenomas or benign myoepitheliomas, or may arise de novo. It usually affects patients over 50 years old, with no gender preference. Because it is often asymptomatic, the presentation and diagnosis can be delayed by months, even years. The current WHO classification considers MC to be an intermediate- to high-grade malignancy. Other published data suggest it is likely to be a high-grade neoplasm, consistent with its aggressive behaviour. Its epidemiology, histopathological features, immunohistochemical profile, clinical behaviour and optimal management are not well understood. Following review of the current literature we aim to address these.
Topics: Carcinoma; Humans; Myoepithelioma; Salivary Gland Neoplasms
PubMed: 26133522
DOI: 10.1007/s12094-015-1329-4 -
The genetic landscape of SMARCB1 alterations in SMARCB1-deficient spectrum of mesenchymal neoplasms.Modern Pathology : An Official Journal... Dec 2022SMARCB1 biallelic inactivation resulting in SMARCB1/INI1 deficiency drives a wide range of malignancies, including many mesenchymal tumors. However, the specific types...
SMARCB1 biallelic inactivation resulting in SMARCB1/INI1 deficiency drives a wide range of malignancies, including many mesenchymal tumors. However, the specific types of SMARCB1 alterations and spectrum of cooperating mutations among various types of sarcomas has not been well investigated. We profiled SMARCB1 genetic alterations by targeted DNA sequencing and fluorescence in situ hybridization (FISH) in a large cohort of 118 soft tissue and bone tumors, including SMARCB1-deficient sarcomas (78, 66%): epithelioid sarcomas, epithelioid peripheral nerve sheath tumors, poorly differentiated chordomas, malignant rhabdoid tumors, and soft tissue myoepithelial tumors, as well as non-SMARCB1-deficient sarcomas (40, 34%) with various SMARCB1 genetic alterations (mutations, copy number alterations). SMARCB1 loss by immunohistochemistry was present in 94% SMARCB1 pathogenic cases. By combined sequencing and FISH assays, 80% of SMARCB1-deficient tumors harbored homozygous (biallelic) SMARCB1 loss, while 14% demonstrated heterozygous SMARCB1 loss-of-function (LOF) alterations, and 6% showed no demonstrable SMARCB1 alterations. FISH and sequencing were concordant in the ability to detect SMARCB1 loss in 48% of cases. Epithelioid sarcomas most commonly (75%) harbored homozygous deletions, while a subset showed focal intragenic deletions or LOF mutations (nonsense, frameshift). In contrast, most soft tissue myoepithelial tumors (83%) harbored SMARCB1 nonsense point mutations without copy number losses. Additionally, clinically significant, recurrent co-occurring genetic events were rare regardless of histotype. By sequencing, extended 22q copy number loss in genes flanking the SMARCB1 locus (22q11.23) occurred in one-third of epithelioid sarcomas and the majority of poorly differentiated chordomas. Poorly differentiated chordomas and soft tissue myoepithelial tumors showed significantly worse overall and disease-free survival compared to epithelioid sarcomas. Overall, SMARCB1 LOF alterations predominate and account for SMARCB1 protein loss in most cases: majority being biallelic but a subset were heterozygous. In contrast, SMARCB1 alterations of uncertain significance can be seen in diverse sarcomas types and does not indicate a SMARCB1-deficient entity.
Topics: Humans; SMARCB1 Protein; In Situ Hybridization, Fluorescence; Myoepithelioma; Chordoma; DNA-Binding Proteins; Transcription Factors; Chromosomal Proteins, Non-Histone; Rhabdoid Tumor; Neoplasms, Connective and Soft Tissue; Sarcoma; Soft Tissue Neoplasms
PubMed: 36088476
DOI: 10.1038/s41379-022-01148-x -
The American Journal of Surgical... Aug 2017Salivary glands may give rise to a wide spectrum of different tumors. This review concentrates on 4 salivary gland tumors that have been accepted in the recent... (Review)
Review
Salivary glands may give rise to a wide spectrum of different tumors. This review concentrates on 4 salivary gland tumors that have been accepted in the recent literature as new neoplastic entities: mammary analog secretory carcinoma, cribriform adenocarcinoma of minor salivary glands (CASG), sclerosing polycystic adenosis/adenoma (SPA), and the mucinous/secretory variant of myoepithelioma. Mammary analog secretory carcinoma is a distinctive low-grade malignant salivary cancer that harbors a characteristic chromosomal translocation, t(12;15) (p13;q25), resulting in an ETV6-NTRK3 fusion. Cribriform adenocarcinoma (CASG) is a distinct tumor entity that differs from polymorphous low-grade adenocarcinoma by location (ie, most often arising on the tongue), by prominent nuclear clearing, differing alterations of the PRKD gene family, and clinical behavior with frequent metastases at the time of presentation of the primary tumor. Early nodal metastatic disease is seen in most cases of CASG; yet, they are still associated with indolent clinical behavior, making it a unique neoplasm among all low-grade salivary gland tumors. SPA is a rare sclerosing tumor of the salivary glands characterized by the combination of cystic ductal structures with variable cell lining including vacuolated, apocrine, mucinous, squamous, and foamy cells, by prominent large acinar cells with coarse eosinophilic cytoplasmic zymogen-like granules, and by closely packed ductal structures, surrounded by a peripheral myoepithelial layer and stromal fibrosis with focal inflammatory infiltrates. SPA frequently harbors intraductal epithelial dysplastic proliferations ranging from mild dysplasia to severe dysplasia/carcinoma in situ. Moreover, SPA has been proven to be a clonal process by HUMARA assay and is associated with considerable risk of recurrence. Therefore, on the basis of all these newly recognized findings, we believe that SPA is likely a neoplasm, and we suggest the name "sclerosing polycystic adenoma." The mucinous variant of myoepithelioma is a myoepithelial tumor with foci of prominent cytoplasmic clearing frequently containing intracellular mucin material and having signet-ring morphology.
Topics: Adenocarcinoma; Adenoma; Diagnosis, Differential; Humans; Mammary Analogue Secretory Carcinoma; Myoepithelioma; Prognosis; Salivary Gland Neoplasms
PubMed: 28614209
DOI: 10.1097/PAS.0000000000000883 -
Journal of Cutaneous Pathology Jun 2020
Topics: 12E7 Antigen; Adult; Carcinoma; Chondrosarcoma; Diagnosis, Differential; Humans; Immunophenotyping; Middle Aged; Myoepithelioma; Oncogene Proteins, Fusion; Repressor Proteins; Sarcoma, Ewing; Soft Tissue Neoplasms; Translocation, Genetic
PubMed: 32166781
DOI: 10.1111/cup.13682 -
The American Journal of Surgical... Sep 2022Cutaneous myoepithelial neoplasms are a heterogenous group of neoplasms with mixed tumors typically affecting the head and myoepitheliomas showing a predilection for the...
Cutaneous myoepithelial neoplasms are a heterogenous group of neoplasms with mixed tumors typically affecting the head and myoepitheliomas showing a predilection for the extremities. Their malignant counterparts, myoepithelial carcinoma, and malignant mixed tumor are exceptionally rare in the skin, and the morphologic criteria for malignancy are only poorly defined. The aim of the present study was to characterize the clinicopathologic features of myoepithelial neoplasms presenting on acral skin. The clinical and histopathologic features of 11 tumors were recorded, and follow-up was obtained. Immunohistochemistry was performed for S100, SOX10, glial fibrillary acidic protein, keratins, epithelial membrane antigen, p63, p40, smooth muscle actin, desmin, and PLAG1. The tumors mainly affected the feet of adults (range: 26 to 78 y; median: 47 y) with a predilection for the great toe and a male predominance of 1.8:1. Most tumors (91%) displayed a lobular architecture composed of solid and nested growth of epithelioid cells with plasmacytoid features in a myxoid or angiomatous stroma. Scattered cytologic atypia and rare duct differentiation were frequently noted. Three tumors with confluent cytologic atypia, infiltrative growth, and lymphovascular invasion were classified as malignant. By immunohistochemistry, the tumors were positive for S100, SOX10, keratins AE1/AE3, CK5/6 and CK7, and PLAG1. Local recurrence and bilateral pulmonary metastasis were observed in a patient presenting with a histopathologically benign-appearing tumor. Two patients with malignant tumors experienced local recurrences, and 1 developed metastasis to soft tissue, lung, and mediastinal lymph nodes. All patients are currently alive, all but 1 with no evidence of disease after a median follow-up interval of 96 months (range: 2 to 360 mo). In conclusion, acral myoepithelial neoplasms show distinctive and reproducible histopathologic and immunohistochemical features. They are best regarded as a distinctive subset of mixed tumors with features reminiscent of their salivary gland counterparts. While most tumors pursue a benign disease course, histopathologic features appear to be a poor indicator of prognosis.
Topics: Adenoma, Pleomorphic; Adult; Aged; Biomarkers, Tumor; Carcinoma; Female; Humans; Immunohistochemistry; Keratins; Male; Middle Aged; Myoepithelioma; Skin Neoplasms
PubMed: 35354162
DOI: 10.1097/PAS.0000000000001896 -
Frontiers in Oncology 2022Malignant myoepithelioma of the head and neck (HNMM) is a rare malignancy, and its characteristics and survival rates have not been well-defined. This study aimed to...
Malignant myoepithelioma of the head and neck (HNMM) is a rare malignancy, and its characteristics and survival rates have not been well-defined. This study aimed to define the epidemiology of HNMM and identify the prognostic factors associated with the disease. Data on all patients diagnosed with HNMM between 1991 and 2016 were gathered from the Surveillance Epidemiology and End Results (SEER) database. The demographics, clinicopathological characteristics, treatment, and prognoses of the patients were described. Cox regression analysis was used to identify the prognostic factors, and the prognostic nomograms for overall survival (OS) and disease-specific survival (DSS) were constructed. A total of 333 cases of HNMM were identified. The average age at diagnosis was 60.6 years, and 50.1% of the patients were men. After diagnosis, 46.2% of patients underwent surgery alone, 43.5% of patients underwent surgery and radiotherapy, and 3.6% of patients received only radiotherapy. Survival analysis showed that the 5-year OS and DSS for all HNMM patients were 69.7 and 82.1%, respectively. In the multivariate analysis model, the undifferentiated pathological grade (P <0.05) and M1 in the M category (P <0.01) were independent prognostic factors for poor OS and DSS, whereas the use of surgical resection was an independent favorable prognostic factor for both OS and DSS (P <0.05). The prognostic nomograms for OS and DSS prediction were constructed; the C-index values for OS and DSS prediction were 0.78 (95% CI 0.70-0.86) and 0.79 (95% CI 0.67-0.90), respectively. In conclusion, this SEER data-based study demonstrated that HNMM patients often had a favorable prognosis, and distant metastasis, pathological grade, and the use of surgery contributed to their survival. Furthermore, we developed a prognostic nomogram to predict OS and DSS for HNMM patients to aid physicians in the clinical management of this rare disease.
PubMed: 35847870
DOI: 10.3389/fonc.2022.754967 -
Indian Journal of Otolaryngology and... Oct 2019Myoepitheliomas are rare tumours of salivary glands arising from myoepithelial cells, which are normal constituent of the salivary acini and ducts and are found between...
Myoepitheliomas are rare tumours of salivary glands arising from myoepithelial cells, which are normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. The most common site of origin of Myoepitheliomas are the salivary glands and rarely other sites in the head and neck have been described in literature. Myoepithelioma arising from parapharyngeal space provide both a diagnostic and therapeutic challenge. We present such a case and discuss its diagnostic and therapeutic aspects.
PubMed: 31742043
DOI: 10.1007/s12070-018-1488-z -
Pathology Feb 2017Salivary gland like tumours of the breast constitute a wide spectrum of entities each one showing peculiar features and clinical behaviour. They can be subdivided as... (Review)
Review
Salivary gland like tumours of the breast constitute a wide spectrum of entities each one showing peculiar features and clinical behaviour. They can be subdivided as follows: (1) tumours showing pure myoepithelial cell differentiation, such as pure benign and malignant myoepitheliomas; (2) tumours with mixed epithelial and myoepithelial cell differentiation, such as pleomorphic adenoma, adenomyoepithelioma and adenoid cystic carcinoma; and (3) tumours with pure epithelial cell differentiation, such as acinic cell carcinoma, oncocytic carcinoma, mucoepidermoid carcinoma and polymorphous adenocarcinoma. These tumours share similar features with the salivary gland counterparts, but different clinical behaviour. Most salivary gland type tumours of the breast are negative for oestrogen and progesterone receptor and lack HER2 gene amplification, therefore they are classified as 'triple negative' tumours. Nevertheless, some of the malignant entities (such as classical adenoid cystic carcinoma) exhibit good behaviour and do not need any treatment in addition to local control. The aim of the present paper is to review the morphological and prognostic features of salivary gland like tumours of the breast, in order to highlight the correct clinical management.
Topics: Adenoma, Pleomorphic; Biomarkers, Tumor; Breast; Humans; Myoepithelioma; Salivary Gland Neoplasms; Salivary Glands
PubMed: 28043647
DOI: 10.1016/j.pathol.2016.10.011 -
International Journal of Surgery Case... 2016With increasing incidence of breast cancers there are now a larger number of cases diagnosed with rare malignancies. These can be diagnostic dilemmas and management...
INTRODUCTION
With increasing incidence of breast cancers there are now a larger number of cases diagnosed with rare malignancies. These can be diagnostic dilemmas and management strategy can be different by various breast multi-disciplinary teams (MDT). We aim to discuss the evidence-based approach for management of these atypical breast cancers which were identified in patients from a single breast screening unit.
METHOD
Patient with unusual breast malignancies (all types except invasive ductal and lobular) treated under the care of a single surgeon were identified during the breast multi-disciplinary discussion from 2011 to 2015. The histology and management of these cases were reviewed and literature search of electronic databases via PubMed and the search engines Google/Google Scholar was performed. Emphasis on keywords based on the histology type was used to limit search. Search was focused on the diagnosis, management and prognosis of these unusual breast cancers.
CONCLUSION
This series aims to focus on the evidence-based management of these rare breast malignancies; the diagnosis of which is crucial as it affects the overall treatment and prognosis.
PubMed: 26812668
DOI: 10.1016/j.ijscr.2016.01.008