SMARCB1 (INI-1) deficient vulvar neoplasms: report of 4 cases with review of literature.

IF 3.5 3区医学 Q2 PATHOLOGY

Diagnostic Pathology Pub Date : 2025-11-25 DOI:10.1186/s13000-025-01731-1

Meenakshi Kamboj, Prerna Chadha, Anila Sharma, Sarika Gupta, Vandana Jain, Divya Bansal, Sunil Pasricha, Gurudutt Gupta, Garima Durga, Anurag Mehta

{"title":"SMARCB1 (INI-1) deficient vulvar neoplasms: report of 4 cases with review of literature.","authors":"Meenakshi Kamboj, Prerna Chadha, Anila Sharma, Sarika Gupta, Vandana Jain, Divya Bansal, Sunil Pasricha, Gurudutt Gupta, Garima Durga, Anurag Mehta","doi":"10.1186/s13000-025-01731-1","DOIUrl":null,"url":null,"abstract":"<p><p>SMARCB1 (INI-1) deficient vulvar neoplasms are rare tumors with scarce available literature. These tumors can be comprised of proximal type epithelioid sarcoma (ES), myoepithelial carcinoma (MEC), myoepithelioma-like tumor of the vulvar region (MELTVR), and myxoepithelioid tumor with chordoid features (METC). A subset of vulvar yolk sac tumors (VYSTs) also exhibit INI-1 deficiency. Unlike other vulvar germ cell tumors, some researchers speculate these to be of non-germ cell origin. Herein, we report a spectrum of INI-1 deficient vulvar tumors comprising VYST (1 case), ES (1 case) and MELTVR (2 cases) which showed variable histomorphological features and concomitant lack of INI-1 expression on immunohistochemistry. The clinical course ranges from indolent to aggressive and all tumors warrant close clinical follow up. Management includes surgical excision with or without adjuvant therapy. Recognition of these unique neoplasms can aid in refining the classification scheme for such uncommon vulvar tumors.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"132"},"PeriodicalIF":3.5000,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648870/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostic Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13000-025-01731-1","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

SMARCB1 (INI-1) deficient vulvar neoplasms are rare tumors with scarce available literature. These tumors can be comprised of proximal type epithelioid sarcoma (ES), myoepithelial carcinoma (MEC), myoepithelioma-like tumor of the vulvar region (MELTVR), and myxoepithelioid tumor with chordoid features (METC). A subset of vulvar yolk sac tumors (VYSTs) also exhibit INI-1 deficiency. Unlike other vulvar germ cell tumors, some researchers speculate these to be of non-germ cell origin. Herein, we report a spectrum of INI-1 deficient vulvar tumors comprising VYST (1 case), ES (1 case) and MELTVR (2 cases) which showed variable histomorphological features and concomitant lack of INI-1 expression on immunohistochemistry. The clinical course ranges from indolent to aggressive and all tumors warrant close clinical follow up. Management includes surgical excision with or without adjuvant therapy. Recognition of these unique neoplasms can aid in refining the classification scheme for such uncommon vulvar tumors.

Abstract Image

查看原文本刊更多论文

SMARCB1 （ni -1）缺失外阴肿瘤4例报告并文献复习。

SMARCB1 （ni -1）缺陷外阴肿瘤是一种罕见的肿瘤，文献资料很少。这些肿瘤包括近端上皮样肉瘤（ES）、肌上皮癌（MEC）、外阴肌上皮瘤样肿瘤（MELTVR）和具有脊索样特征的黏液上皮样肿瘤（METC）。一部分外阴卵黄囊肿瘤（VYSTs）也表现出i -1缺乏。与其他外阴生殖细胞肿瘤不同，一些研究人员推测这些肿瘤起源于非生殖细胞。在此，我们报道了一组包括VYST（1例）、ES（1例）和MELTVR（2例）的外阴i -1缺陷肿瘤，这些肿瘤在免疫组织化学上表现出不同的组织形态学特征，并伴有i -1表达缺失。临床过程从惰性到侵袭性，所有肿瘤都需要密切的临床随访。治疗包括手术切除加或不加辅助治疗。认识到这些独特的肿瘤有助于完善这类罕见外阴肿瘤的分类方案。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Diagnostic Pathology 医学-病理学

CiteScore

4.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Diagnostic Pathology is an open access, peer-reviewed, online journal that considers research in surgical and clinical pathology, immunology, and biology, with a special focus on cutting-edge approaches in diagnostic pathology and tissue-based therapy. The journal covers all aspects of surgical pathology, including classic diagnostic pathology, prognosis-related diagnosis (tumor stages, prognosis markers, such as MIB-percentage, hormone receptors, etc.), and therapy-related findings. The journal also focuses on the technological aspects of pathology, including molecular biology techniques, morphometry aspects (stereology, DNA analysis, syntactic structure analysis), communication aspects (telecommunication, virtual microscopy, virtual pathology institutions, etc.), and electronic education and quality assurance (for example interactive publication, on-line references with automated updating, etc.).