Endometrial cancer is often the sentinel cancer in women with Lynch syndrome, among which endometrioid endometrial cancer is the most common. We found a Korean case of uterine carcinosarcoma associated with Lynch syndrome. And we reviewed 27 Korean women with endometrial cancer associated with Lynch syndrome already released in case report so far. The proband, a 45-year-old Korean woman received treatment for endometrioid adenocarcinoma. Her older sister and niece were treated for endometrioid adenocarcinoma and carcinosarcoma, respectively. Family history met the Amsterdam II criteria and immunohistochemical analysis revealed a loss of MLH1 and PMS2. They all harbored a previously unreported germline likely pathogenic variant in c.1367delC in MLH1. They underwent staging operations including total hysterectomy, bilateral salpingo-oophorectomy, pelvic/paraaortic lymph node dissection, and washing cytology. All three women were healthy without evidence of relapse for over 4 years. This report indicates a novel germline c.1367delC variant in MLH1, and presents a Korean case of uterine carcinosarcoma associated with Lynch syndrome. Furthermore, the c.1757_1758insC variant in MLH1 was suggested as a founder mutation in Lynch syndrome in Korean women.

中文翻译：

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三名韩国Lynch综合征家族子宫内膜癌女性hMLH1的新种系突变：病例报告和文献综述

子宫内膜癌往往是 Lynch 综合征女性的前哨癌，其中以子宫内膜样子宫内膜癌最为常见。我们发现了一例与 Lynch 综合征相关的韩国子宫癌肉瘤病例。我们回顾了迄今为止已在病例报告中发布的 27 名患有与 Lynch 综合征相关的子宫内膜癌的韩国女性。先证者是一名 45 岁的韩国女性，因子宫内膜样腺癌接受治疗。她的姐姐和侄女分别接受了子宫内膜样腺癌和癌肉瘤的治疗。家族史符合阿姆斯特丹 II 标准，免疫组化分析显示 MLH1 和 PMS2 缺失。他们都在 MLH1 的 c.1367delC 中携带了先前未报告的种系可能致病性变异。他们接受了分期手术，包括全子宫切除术、双侧输卵管卵巢切除术、盆腔/主动脉旁淋巴结清扫和洗涤细胞学检查。所有三名妇女都很健康，没有复发的证据超过 4 年。这份报告指出了 MLH1 中的一种新的生殖系 c.1367delC 变异，并介绍了一个与 Lynch 综合征相关的韩国子宫癌肉瘤病例。此外，MLH1 中的 c.1757_1758insC 变异被认为是韩国女性林奇综合征的创始人突变。