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Vulvar Yolk Sac Tumors Are Somatically Derived SMARCB1 (INI-1)-Deficient Neoplasms.
- Source :
-
The American journal of surgical pathology [Am J Surg Pathol] 2022 Feb 01; Vol. 46 (2), pp. 169-178. - Publication Year :
- 2022
-
Abstract
- So-called primary yolk sac tumors of the vulva are very rare and often have an aggressive disease course. Their molecular features have not been previously characterized. There is also a well-documented group of SMARCB1 (INI-1)-deficient vulvar neoplasms, which includes proximal-type epithelioid sarcoma and myoepithelial carcinoma. Until now, "vulvar yolk sac tumors" and SMARCB1-deficient neoplasms were considered unrelated diseases. After reviewing an index case of a vulvar yolk sac tumor with loss of SMARCB1 by immunohistochemistry, we retrospectively identified 2 additional cases diagnosed as vulvar yolk sac tumors. Patient ages were 34, 32, and 25 years old, and 2 tumors were associated with a pregnancy. All 3 cases showed morphology typical of a yolk sac tumor, and by immunohistochemistry all were positive for SALL4, glypican-3, keratins, and lacked CD34 positivity. All tumors also demonstrated loss of SMARCB1 in tumor cells. Targeted molecular profiling was performed in 2 cases and identified 2 copy deletion of SMARCB1, without genomic alterations typically seen in gonadal yolk sac tumors. In the third case, isochromosome 12p was not identified by fluorescence in situ hybridization. All 3 patients had either local recurrences or distant metastases, and 2 died of disease. One patient had progressive disease while receiving the enhancer of zeste homolog 2 inhibitor tazemetostat. Overall, these findings suggest that vulvar tumors with pure yolk sac-like morphology may represent morphologic variants of SMARCB1-deficient tumors and not veritable germ cell neoplasia. This potential reclassification may have both prognostic and treatment implications and warrants study of additional extragonadal yolk sac tumors.<br />Competing Interests: Conflicts of Interest and Source of Funding: The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.<br /> (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
- Subjects :
- Adult
Biomarkers, Tumor genetics
Chromosome Deletion
Chromosomes, Human, Pair 12
Disease Progression
Endodermal Sinus Tumor genetics
Endodermal Sinus Tumor secondary
Endodermal Sinus Tumor surgery
Female
Gene Deletion
Humans
Neoplasm Recurrence, Local
Retrospective Studies
SMARCB1 Protein genetics
Treatment Outcome
Vulvar Neoplasms genetics
Vulvar Neoplasms pathology
Vulvar Neoplasms surgery
Biomarkers, Tumor deficiency
Endodermal Sinus Tumor chemistry
SMARCB1 Protein deficiency
Vulvar Neoplasms chemistry
Subjects
Details
- Language :
- English
- ISSN :
- 1532-0979
- Volume :
- 46
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- The American journal of surgical pathology
- Publication Type :
- Academic Journal
- Accession number :
- 34265804
- Full Text :
- https://doi.org/10.1097/PAS.0000000000001777