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腹膜间皮瘤原位进展为遗传性 BAP1 突变相关子宫内膜异位症背景下的侵袭性间皮瘤:病例报告。

Progression of Peritoneal Mesothelioma In Situ to Invasive Mesothelioma Arising in the Setting of Endometriosis With Germline BAP1 Mutation: A Case Report.

出版信息

Int J Gynecol Pathol. 2022 Sep 1;41(5):535-540. doi: 10.1097/PGP.0000000000000832. Epub 2021 Oct 29.

Abstract

Mesothelioma in situ has been proposed as a precursor to malignant mesothelioma arising in the pleura or peritoneum. We report a case of malignant peritoneal mesothelioma which progressed from mesothelioma in situ over a 10-mo period in a 24-yr-old woman with stage IV endometriosis. Initial surgery showed deeply infiltrative endometriosis with progestin effect. Postoperatively the patient had intractable pelvic pain and vaginal discharge. Imaging studies were negative. Repeat laparoscopy 10 mo later revealed vesicular lesions on the omentum and pinpoint white lesions studding the small bowel, appendix, and pelvic peritoneum. A diagnosis of epithelioid mesothelioma was established on biopsy of the omentum and confirmed by immunohistochemistry showing complete loss of BRCA1-associated protein-1 (BAP1) nuclear staining. Retrospectively, BAP1 loss was identified in the cytologically bland, single-layer surface mesothelium of the prior resection specimen, consistent with mesothelioma in situ . The patient underwent genetic testing and was found to have a pathogenic germline mutation in BAP1 .

摘要

原位间皮瘤被认为是发生于胸膜或腹膜的恶性间皮瘤的前驱病变。我们报告了一例年轻女性,患有 IV 期子宫内膜异位症,在 10 个月的时间内,从原位间皮瘤进展为恶性腹膜间皮瘤。初始手术显示具有孕激素作用的深度浸润性子宫内膜异位症。术后患者出现难以控制的盆腔疼痛和阴道分泌物。影像学检查阴性。10 个月后再次行腹腔镜检查显示大网膜上有泡状病变,以及针尖状白色病变点缀小肠、阑尾和盆腔腹膜。大网膜活检诊断为上皮样间皮瘤,并通过免疫组化证实,显示 BRCA1 相关蛋白-1(BAP1)核染色完全缺失。回顾性分析,在先前切除标本中细胞学上表现为单层表面间皮的细胞中发现 BAP1 缺失,符合原位间皮瘤。患者进行了基因检测,发现 BAP1 存在致病性种系突变。

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