A Subset of SMARCB1 (INI-1)-deficient vulvar neoplasms express germ cell markers.
INI-1
SMARCB1
epithelioid sarcoma
vulva
yolk sac tumour
Journal
Histopathology
ISSN: 1365-2559
Titre abrégé: Histopathology
Pays: England
ID NLM: 7704136
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
revised:
24
05
2022
received:
07
04
2022
accepted:
25
05
2022
pubmed:
28
6
2022
medline:
11
8
2022
entrez:
27
6
2022
Statut:
ppublish
Résumé
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. 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. 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.
Substances chimiques
Biomarkers, Tumor
0
Glypicans
0
SMARCB1 Protein
0
SMARCB1 protein, human
0
Transcription Factors
0
alpha-Fetoproteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
342-351Informations de copyright
© 2022 John Wiley & Sons Ltd.
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