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A Subset of SMARCB1 (INI-1)-deficient vulvar neoplasms express germ cell markers.
Hammer, Phoebe M; Kolin, David L; Charville, Gregory W; McCluggage, W Glenn; Howitt, Brooke E.
Afiliación
  • Hammer PM; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
  • Kolin DL; Division of Women's and Perinatal Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Charville GW; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
  • McCluggage WG; Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK.
  • Howitt BE; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Histopathology ; 81(3): 342-351, 2022 Sep.
Article en En | MEDLINE | ID: mdl-35758187
AIMS: SMARCB1 (INI-1)-deficient vulvar neoplasms comprise a group of rare tumours that include epithelioid sarcoma (ES), myoepithelial carcinoma (MEC), the recently described myoepithelioma-like tumour of the vulvar region (MELTVR), and sarcomas that are difficult to classify. It has been suggested that so-called vulvar yolk sac tumours (YST) may represent morphologic variants of SMARCB1-deficient tumours; thus, we investigated the immunoreactivity of germ cell markers in SMARCB1-deficient vulvar neoplasms. METHODS AND RESULTS: Ten SMARCB1-deficient vulvar neoplasms were stained with germ cell tumour markers (SALL4, glypican-3, OCT3/4, and AFP) and re-reviewed for morphologic features. The tumours occurred in adult females (median age 41 years) and included ES (n = 7), MELTVR (n = 2), and MEC (n = 1). All cases showed loss of SMARCB1 expression. Four cases (40%) were focally positive for SALL4 in areas with morphology of typical-appearing ES. One of these cases also showed focal staining for OCT3/4. One ES showed a transition from typical-appearing ES to YST-like morphology, with diffuse expression of SALL4 and glypican-3, and focal expression of AFP, in these latter areas. All other tested cases were negative for AFP. CONCLUSION: Our study reveals that SALL4, glypican-3, and OCT3/4 are positive in a subset of SMARCB1-deficient vulvar neoplasms, which may pose a diagnostic challenge and result in consideration of a germ cell tumour. We also highlight a case with transition from ES to YST-like morphology, lending further support that YSTs of the vulva are somatically derived SMARCB1-deficient neoplasms and do not represent true germ-cell neoplasia.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sarcoma / Neoplasias de la Vulva / Carcinoma / Tumor del Seno Endodérmico / Mioepitelioma / Neoplasias de Células Germinales y Embrionarias Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Histopathology Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sarcoma / Neoplasias de la Vulva / Carcinoma / Tumor del Seno Endodérmico / Mioepitelioma / Neoplasias de Células Germinales y Embrionarias Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Histopathology Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido