Synchronous endometrial and ovarian cancer in Lynch syndrome with a MSH2 germline mutation: A case report.
Synchronous endometrial and ovarian cancer in Lynch syndrome with a MSH2 germline mutation: A case report.
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DOI：
10.3892/mco.2018.1723
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发表时间：
2018-11
影响因子：
1.2
通讯作者：
Aoki D
中科院分区：
文献类型：
--
作者：
Takeda T;Banno K;Yanokura M;Anko M;Kobayashi A;Sera A;Takahashi T;Adachi M;Kobayashi Y;Hayashi S;Nomura H;Hirasawa A;Tominaga E;Aoki D
子宫内膜卵巢癌是一种罕见的妇科恶性肿瘤，其早期表现为卵巢样癌，预后良好。然而，诊断是困难的，最近的报道表明，大多数临床诊断的SEOC病例具有克隆相关的癌症，表明转移性癌症。SEOC与Lynch综合征的关系也不清楚。我们在此提出的情况下，41岁的SEOC患者MSH2突变。子宫内膜癌为类囊腺癌，卵巢癌主要为类囊腺癌，但也包括透明细胞癌伴边缘性透明细胞腺纤维瘤成分，表明原发性卵巢癌。两种肿瘤均表现出微卫星不稳定性（MSI）和MSH2和MSH6表达缺失。患者有结直肠癌和胃癌家族史。基因分析显示MSH2第6外显子存在种系突变（c.1042C>T，p.Gln348*），患者被诊断为Lynch综合征。这种MSH2突变仅在InSIGHT变体数据库中登记了一例病例，迄今为止尚未在妇科肿瘤或SEOC中报告。这个病例是一个罕见的例子，一个病人的基因诊断林奇综合征谁也发展SEOC。这种同时发生的癌症并不常见，但可能是由林奇综合征引起的。在疑似SEOC的病例中，MSI和错配修复缺陷免疫组化检测是必要的。
Synchronous endometrial and ovarian cancer (SEOC) is a rare entity among gynecological cancers, which exhibits endometrioid histology in its early stages and generally has a good prognosis. However, diagnosis is difficult and recent reports have demonstrated that most clinically diagnosed cases of SEOC have clonally related cancers, indicating metastatic cancer. The association of SEOC with Lynch syndrome is also not clearly understood. We herein present the case of a 41-year-old SEOC patient with MSH2 mutation. The endometrial cancer was an endometrioid adenocarcinoma and the ovarian cancer was mainly endometrioid, but also included a clear cell carcinoma with a borderline clear cell adenofibromatous component, indicating primary ovarian cancer. Both tumors exhibited microsatellite instability (MSI) and loss of expression of MSH2 and MSH6. The patient had a family history of colorectal and gastric cancers. Genetic analysis revealed a germline mutation in exon 6 of MSH2 (c.1042C>T, p.Gln348*) and the patient was diagnosed with Lynch syndrome. This MSH2 mutation has only been registered in one case in the InSiGHT variant databases and has not been reported in a gynecological tumor or SEOC to date. This case is a rare example of a patient with genetically diagnosed Lynch syndrome who also developed SEOC. This synchronous cancer is not common, but it may be caused by Lynch syndrome. Testing for MSI and immunohistochemistry for mismatch repair deficiency is necessary in cases with suspected SEOC.