- 报道 4 例新的外阴阴道间叶性肿瘤：34–48 岁女性，阴道 2 例、外阴前庭大腺（Bartholin 腺）区 2 例；肿瘤实性、边界清楚，25–55 mm。
- 形态：以上皮样细胞为主、少量梭形细胞，胞质丰富、颗粒状毛玻璃样嗜酸性（「蜕膜样」），血管显著，伴轻度淋巴细胞浸润；ER、PR、CD63、vimentin 一致弥漫阳性，无其他一致的免疫表型。
- 2 例 BAP1 免疫组化缺失并检出胚系 BAP1 失活变异；全部病例有 14q 和/或 17q 拷贝数缺失及 MAPK 通路基因改变（含 NF1 缺失、FLT3 变异），1 例 FBXL20::MSI2 新融合；随访 8 个月–15 年均未复发。
收录范围：PubMed 英文摘要及中文翻译（abstract-only）。原文为订阅制（Ovid/LWW 页面无开放全文，Unpaywall 暂未收录该 DOI），未采集全文、图表。
摘要
外阴阴道区域可发生多种间叶性病变，其中一些相对具有部位特异性。我们报道 4 例一种新的外阴阴道间叶性病变，并将其命名为伴「蜕膜样」形态的外阴阴道上皮样间叶性肿瘤，以反映其主要形态学特征——上皮样细胞具有颗粒状、毛玻璃样的「蜕膜样」外观。肿瘤发生于 34 至 48 岁的女性，累及阴道（2 例）或外阴前庭大腺（Bartholin 腺）区域（2 例）。肿瘤大小为 25 至 55 mm，呈实性、边界清楚。肿瘤由上皮样细胞和数量较少的梭形细胞构成，胞质丰富、呈颗粒状毛玻璃样嗜酸性，赋予其「蜕膜样」形态；血管显著，并有轻度淋巴细胞浸润。免疫组化显示雌激素受体、孕激素受体、CD63 和波形蛋白（vimentin）一致呈弥漫阳性，此外无其他一致的免疫表型。其中 2 例肿瘤免疫组化显示 BAP1 缺失，并存在胚系 BAP1 失活变异（BAP1 肿瘤易感综合征）。分子检测显示，所有肿瘤均存在 14q 和/或 17q 区域基因的拷贝数缺失。所有病例也均存在 MAPK 通路相关基因的改变（包括 NF1 缺失、一个可能致病的 FLT3 变异，以及 FLT3、BMPR1A 和 RUNX1 的意义未明变异）。其中 1 例携带一种新的 FBXL20::MSI2 融合。随访期间（8 个月至 15 年），无一例肿瘤复发。在报道这一新肿瘤的同时，我们详细描述了其形态学、免疫组化和分子特征，讨论了鉴别诊断与组织发生，并将这一新实体确立为 BAP1 肿瘤易感综合征的组成部分。
- Four cases of a novel vulvovaginal mesenchymal neoplasm in women aged 34–48 years: vagina (2) and vulval Bartholin's gland region (2); solid, well-circumscribed, 25–55 mm.
- Morphology: predominantly epithelioid with fewer spindle cells, abundant granular glassy eosinophilic cytoplasm ("deciduoid"), prominent vascularity and a mild lymphoid infiltrate; consistently diffuse ER, PR, CD63 and vimentin, with no other consistent immunophenotype.
- Two showed BAP1 loss with inactivating germline BAP1 variants; all had 14q and/or 17q copy number loss and MAPK-pathway alterations; one novel FBXL20::MSI2 fusion; no recurrence on follow-up (8 mo to 15 y).
Scope: PubMed abstract only. The article is subscription-only (no open full text on the Ovid/LWW page; DOI not yet indexed by Unpaywall), so full text, figures and tables were not collected.
Abstract
A wide variety of mesenchymal lesions arise in the vulvovaginal region, some relatively site-specific. We report 4 cases of a novel vulvovaginal mesenchymal lesion, which we term vulvovaginal epithelioid mesenchymal neoplasm with "deciduoid" morphology, reflecting the predominant morphologic feature of epithelioid cells with a granular glassy "deciduoid" appearance. The tumors arose in women aged 34 to 48 years and involved the vagina (2 cases) or the vulval Bartholin's gland region (2 cases). The size ranged from 25 to 55 mm and they were solid and well-circumscribed. The tumors were composed of epithelioid and lesser numbers of spindle-shaped cells with abundant granular glassy eosinophilic cytoplasm, imparting a "deciduoid" morphology; there was prominent vascularity and a mild lymphoid infiltrate. Immunohistochemistry showed consistent diffuse estrogen receptor, progesterone receptor, CD63, and vimentin positivity with no other consistent immunophenotype. Two of the tumors showed immunohistochemical BAP1 loss and exhibited inactivating germline BAP1 variants (BAP1 tumor predisposition syndrome). On molecular testing, all tumors showed copy number loss of genes in 14q and/or 17q regions. Alterations of genes involved in the MAPK pathway were also present in all cases (including NF1 loss, a likely pathogenic variant in FLT3, and variants of unknown significance in FLT3, BMPR1A, and RUNX1). One of the cases harbored a novel FBXL20::MSI2 fusion. On follow-up (8 mo to 15 y), none of the tumors recurred. In reporting this novel neoplasm, we describe in detail the morphologic, immunohistochemical, and molecular features, discuss the differential diagnosis and histogenesis, and establish this novel entity as part of the BAP1 tumor predisposition syndrome.