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Dermatopathology (Basel, Switzerland) Jul 2023Cutaneous syncytial myoepithelioma is a recently characterized variant of cutaneous myoepithelioma with a distinct histopathological and immunohistochemical profile. It...
Cutaneous syncytial myoepithelioma is a recently characterized variant of cutaneous myoepithelioma with a distinct histopathological and immunohistochemical profile. It is more common in men and predominately involves upper and lower extremities. Microscopically, it is a dermal tumor with a characteristic solid syncytial growth pattern displaying positivity with EMA and S100 immunohistochemical stains. Lately, EWSR1-PBX3 fusion has been documented in a vast majority. Although it follows a benign clinical course, its histopathological differential diagnosis includes clinically aggressive neoplasia. This contribution summarizes the derivation, clinical presentation, histopathological and immunohistochemical features, molecular genetics, pertinent differential diagnosis, and behavior of this unique cutaneous appendageal tumor.
PubMed: 37489454
DOI: 10.3390/dermatopathology10030030 -
International Journal of Surgical... May 2024Concurrent occurrence of schwannoma and meningiomas are rare, and are found especially in association with neurofibromatosis type 2 (NF2). Occurrence of mixed tumor...
Concurrent occurrence of schwannoma and meningiomas are rare, and are found especially in association with neurofibromatosis type 2 (NF2). Occurrence of mixed tumor without the aforementioned conditions is extremely rare. We present three cases of mixed tumor in different locations, including two with NF2 and one without NF2. We analyse the relationship of mixed tumor with NF2 and its clinical implications. Presence of mixed schwannoma-meningioma should prompt screening for NF2. Thus aids in early diagnosis of unsuspected NF2 cases. We observed that irrespective of different locations, cases with NF2 showed frequent recurrence of schwannoma as compared to case who did not fit in the existing clinical criteria for NF2. Collision tumor and thereby NF2 mutations indicates the prognosis and recurrence of the tumor, thereby guides in deciding the management.
Topics: Humans; Neurofibromatosis 2; Meningioma; Meningeal Neoplasms; Neurilemmoma; Carcinogenesis; Cell Transformation, Neoplastic; Myoepithelioma
PubMed: 37487199
DOI: 10.1177/10668969231188897 -
Virchows Archiv : An International... Aug 2023Preferentially expressed antigen in melanoma (PRAME) immunohistochemistry is currently used in pathology for the assessment of melanocytic neoplasms; however, knowledge...
Preferentially expressed antigen in melanoma (PRAME) immunohistochemistry is currently used in pathology for the assessment of melanocytic neoplasms; however, knowledge of its expression patterns in soft tissue tumors is limited. PRAME immunohistochemistry (clone QR005) was assessed on whole tissue sections of 350 soft-tissue tumors and mimics (> 50 histotypes). PRAME immunoreactivity was evaluated as follows: 0 "negative" (0% positive cells); 1+ (1-25% positive cells); 2+ (26-50% positive cells); 3+ (51-75% positive cells), and 4+ "diffuse" (> 75% positive cells). PRAME was expressed in 111 lesions (0 benign, 6 intermediate malignancy, and 105 malignant), including fibrosarcomatous dermatofibrosarcoma protuberans (2/4, 0 diffuse), NTRK-rearranged spindle cell neoplasm (2/4, 0 diffuse), atypical fibroxanthoma (1/7, 0 diffuse), Kaposi sarcoma (1/5, 0 diffuse), myxoid liposarcoma (11/11, 9 diffuse), synovial sarcoma (11/11, 6 diffuse), intimal sarcoma (7/7, 5 diffuse), biphenotypic sinonasal sarcoma (3/3, 1 diffuse), angiosarcoma (10/15, 6 diffuse), malignant peripheral nerve sheath tumor (9/12, 4 diffuse), pleomorphic rhabdomyosarcoma (2/3, 2 diffuse), alveolar rhabdomyosarcoma (2/6, 0 diffuse), embryonal rhabdomyosarcoma (7/7, 4 diffuse), undifferentiated pleomorphic sarcoma (2/12, 1 diffuse), leiomyosarcoma (2/15, 1 diffuse), clear cell sarcoma of soft tissue (1/10, 0 diffuse), low-grade fibromyxoid sarcoma (1/5, 0 diffuse), Ewing sarcoma (2/10, 1 diffuse), CIC-rearranged sarcoma (8/8, 4 diffuse), BCOR-sarcoma (2/5, 1 diffuse), melanoma (20/20, 14 diffuse), and thoracic SMARCA4-deficient undifferentiated tumor (5/5, all diffuse). All tested cases of spindle cell lipoma, dedifferentiated/pleomorphic liposarcoma, dermatofibrosarcoma protuberans, solitary fibrous tumor, inflammatory myofibroblastic tumor, myxoinflammatory fibroblastic sarcoma, nodular fasciitis, myxofibrosarcoma, epithelioid hemangioendothelioma, atypical vascular lesion, hemangioma, lymphangioma, vascular malformation, papillary endothelial hyperplasia, GIST, gastrointestinal clear-cell sarcoma, malignant melanotic nerve sheath tumor, neurofibroma, schwannoma, granular cell tumor, alveolar soft part sarcoma, epithelioid sarcoma, extraskeletal myxoid chondrosarcoma, myoepithelioma, ossifying fibromyxoid tumor, angiomatoid fibrous histiocytoma, PEComa, dermatofibroma, pleomorphic dermal sarcoma, and chordoma were negative. PRAME shows imperfect specificity in soft-tissue pathology but may serve as a diagnostic adjunct in selected differential diagnoses that show contrasting expression patterns.
Topics: Humans; Adult; Immunohistochemistry; Sarcoma; Soft Tissue Neoplasms; Sarcoma, Ewing; Skin Neoplasms; Transcription Factors; Fibrosarcoma; Melanoma; Diagnosis, Differential; Biomarkers, Tumor; DNA Helicases; Nuclear Proteins; Antigens, Neoplasm
PubMed: 37477762
DOI: 10.1007/s00428-023-03606-6 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jul 2023
Topics: Humans; Carcinoma; Myoepithelioma; Molecular Biology
PubMed: 37408403
DOI: 10.3760/cma.j.cn112151-20230323-00219 -
Journal of the American Society of... 2023Myoepithelial carcinoma (MECA) is an infrequently recognized salivary gland (SG) neoplasm that commonly develops within a preexisting pleomorphic adenoma (MECA ex PA).... (Review)
Review
INTRODUCTION
Myoepithelial carcinoma (MECA) is an infrequently recognized salivary gland (SG) neoplasm that commonly develops within a preexisting pleomorphic adenoma (MECA ex PA). Fine-needle aspiration (FNA) biopsy reports of this neoplasm are largely restricted to small series and single case reports.
METHODS
Our cytopathology files were searched for examples of SG MECA/MECA ex PA having confirmatory histopathologic verification. Conventional FNA biopsy smears were performed, and exfoliative specimens processed using standard techniques.
RESULTS
Thirteen cases from 9 patients (M:F = 3.5:1; age range: 36 to 95 years, mean age = 60 years) met inclusion criteria. FNA biopsy sites included parotid gland (4), trunk (2), scalp (2), and neck (2). Exfoliative specimens included pleural fluid (1), bronchial brushing (1), and bronchoalveolar lavage (1). Most cases were metastatic deposits (8; 62%), 4 were primary neoplasms, and 1 a local recurrence. FNA diagnoses were MECA ex PA (6; 46%), myoepithelial neoplasm (2), PA (2), basaloid neoplasm (1), atypical myoepithelial cells (1), and myxoma (1). Ancillary testing in 2 cases showed positive staining for myoepithelial markers. Cytologic features were that of a low-grade neoplasm composed principally of epithelioid/polygonal cells exhibiting minimal if any cytologic atypia. Myxoid and chondromyxoid stroma was often the dominant feature in MECA ex PA aspirates.
CONCLUSION
In the primary setting, a cytologic diagnosis of MECA/MECA ex PA is extremely challenging if at all possible. Due to overwhelming amounts of stroma, the diagnosis may be challenging in some cases of metastatic MECA ex PA.
Topics: Humans; Adult; Middle Aged; Aged; Aged, 80 and over; Cytology; Salivary Gland Neoplasms; Adenoma, Pleomorphic; Carcinoma; Myoepithelioma; Salivary Glands
PubMed: 37270329
DOI: 10.1016/j.jasc.2023.05.001 -
Genes, Chromosomes & Cancer Oct 2023Herein we report a case of an intraosseous myoepithelial carcinoma harboring a EWSR1::PBX3 fusion gene. The patient was a 64-year-old male found to have a 7 cm...
Herein we report a case of an intraosseous myoepithelial carcinoma harboring a EWSR1::PBX3 fusion gene. The patient was a 64-year-old male found to have a 7 cm destructive lesion in the distal ulna with an extraosseous soft tissue component. Microscopic examination of the resected tumor showed a spindle-cell lesion within a sclerotic stroma and intravascular tumor emboli. At higher power the tumor cells showed moderate nuclear atypia with a high mitotic count (20 per mm ). Immunohistochemistry revealed diffuse EMA positivity and focal pancytokeratin (AE1/AE3) and S100 expression, consistent with myoepithelial differentiation. NGS using the Oncomine Childhood Cancer Assay (Thermo Fisher Scientific, Inc.) revealed a EWSR1-PBX3 fusion and ABL amplification. The patient subsequently developed local recurrence as well as distant lymph node, lung and vertebral metastases; he is currently awaiting systemic treatment in the context of a clinical trial. In this report, we present a rare case of a skeletal myoepithelial tumor harboring a EWSR1::PBX3 fusion with demonstrated histological and clinical features of malignancy.
Topics: Humans; Male; Middle Aged; Biomarkers, Tumor; Bone Neoplasms; Carcinoma; Gene Fusion; Myoepithelioma; Neoplasms, Connective and Soft Tissue; RNA-Binding Protein EWS
PubMed: 37129228
DOI: 10.1002/gcc.23148 -
Human Pathology Oct 2023Myoepithelial neoplasms comprise a histologically and immunophenotypically diverse spectrum of entities. The following review is a comprehensive summary of acral lesions...
Myoepithelial neoplasms comprise a histologically and immunophenotypically diverse spectrum of entities. The following review is a comprehensive summary of acral lesions demonstrating myoepithelial-like and chondroid histomorphology, as well as recently described mimics that are diagnostically challenging to distinguish. The salient clinicopathologic, immunophenotypic, and molecular features of each entity are described.
PubMed: 37054781
DOI: 10.1016/j.humpath.2023.04.003 -
Annales de Pathologie Nov 2023Myoepithelial neoplasms of soft tissue represent a rare entity which has been described only recently when compared to salivary gland tumors with whom they share...
Myoepithelial neoplasms of soft tissue represent a rare entity which has been described only recently when compared to salivary gland tumors with whom they share histopathological and molecular features. The most common locations are the superficial soft tissues of the limbs and limb girdles. However, they can rarely occur in the mediastinum, abdomen, bone, skin and visceral organs. Benign forms (myoepithelioma and mixed tumor) are more frequent than myoepithelial carcinoma and the latter mostly affects children and young adults. Diagnosis is mainly based on histology, which shows a proliferation of myoepithelial cells of variable morphology with or without glandular structures in a myxoid background, and immunohistochemistry, which shows co-expression of epithelial and myoepithelial markers. Molecular tests are not mandatory, but in selected cases FISH analysis can prove useful as about 50% of myoepitheliomas show EWSR1 (or rarely FUS) rearrangements and mixed tumors show PLAG1 rearrangements. Here, we present a case of a mixed tumor of the soft tissue occuring in the hand with expression of PLAG1 in immunohistochemistry.
Topics: Humans; Adenoma, Pleomorphic; Biomarkers, Tumor; Immunohistochemistry; Myoepithelioma; Salivary Gland Neoplasms; Soft Tissue Neoplasms
PubMed: 36906453
DOI: 10.1016/j.annpat.2023.02.008 -
Journal of Stomatology, Oral and... Sep 2023Myoepithelioma is an infrequent benign tumor of the salivary glands, characterized by its composition of myoepithelial cells which can show different shapes and be...
Myoepithelioma is an infrequent benign tumor of the salivary glands, characterized by its composition of myoepithelial cells which can show different shapes and be arranged in various patterns with a well-circumscribed or encapsulated growth. This tumor commonly presents in adults as an asymptomatic swelling of the parotid gland, very rarely in minor salivary glands of children or adolescents, and even rarer in the buccal mucosa, with only six cases reported to date and only one of them presented in an adolescent. We present an additional case of myoepithelioma in the buccal mucosa of a 16-year-old male, with a novel clinical presentation as a non-submucosal exophytic mass. Immunohistochemically, neoplastic cells were positive for CK, S100, p63, and GFAP. The tumour was treated surgically, and the patient showed satisfactory evolution at 1 year of follow-up. The clinical and histopathological characteristics of the reported cases are discussed.
Topics: Male; Adult; Child; Humans; Adolescent; Salivary Gland Neoplasms; Myoepithelioma
PubMed: 36758900
DOI: 10.1016/j.jormas.2023.101419