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首页> 外文期刊>Gynecologic Oncology Reports >Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted
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Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted

机译：Lynch综合征患者的浆液性卵巢癌：必须谨慎

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In a recent issue of Gynecologic Oncology, Woolderink et al. reportedon ovarian cancer characteristics among two cohorts of Dutch patientswith Lynch syndrome (Woolderink et al., 2018). Detailed clinical andpathological descriptions based on large series of patients with geneticsusceptibility to cancer are always welcome, and the authors shouldtherefore be praised for their e?orts. Such reports potentially helpcancer geneticists determine which patients need germline genetictesting, and what genes should be analyzed. Furthermore, betterknowledge of cancer risks among proven mutation carriers determineslong-term management, i.e. surveillance and risk reduction. However,we would like to express some reservations regarding the fndings byWoolderink et al., more specifcally the reported number of high- andlow-grade serous ovarian carcinomas among Lynch patients, an aspectthat is not properly addressed in the discussion. The study included 878women. Fifty-three had a history of ovarian cancer, nineteen of which(34%) were high or low-grade serous tumors. The high proportion ofserous tumors is surprising, since recent literature strongly suggests thatthere is no association between serous ovarian carcinoma and Lynchsyndrome. We have selected three high-impact papers to support ourclaims. Rambau et al. observed no protein expression loss for the fourmismatch repair (MMR) genes, MLH1, MSH2, MSH6, PMS2 in 175serous ovarian carcinomas, while the proportion was 25/181 (13.8%)and 4/163 (2.4%) for endometrioid and clear cell tumors, respectively(Rambau et al., 2016). Expression loss as identifed by immunohistochemistry (IHC) is suggestive of Lynch syndrome, as is microsatellite instability (MSI) within the tumor, and subsequent germlinetesting of MMR genes is required to confrm the diagnosis. In a series of1893 women with epithelial ovarian cancer ascertained from threepopulation-based studies, Pal et al. diagnosed Lynch syndrome in only2/933 (0.2%) patients with serous carcinomas (Pal et al., 2012), afrequency that is inferior to estimations of Lynch syndrome frequencyin the general population (Hampel and de la Chapelle, 2013;Haraldsdottir et al., 2017). Finally, Chui et al. performed central pathology review of tumor subtype on twenty mutation-confrmed Lynchsyndrome ovarian carcinomas (Chui et al., 2014). Serous histology wasnot seen.
机译：在最近一期的《妇科肿瘤学》中，Woolderink等人。报道了两个荷兰林奇综合征患者队列中的卵巢癌特征（Woolderink et al。，2018）。总是欢迎基于对癌症具有遗传易感性的大量患者进行详细的临床和病理学描述，因此，作者应给予赞赏。这些报告可能帮助癌症遗传学家确定哪些患者需要进行种系遗传测试，以及应该分析哪些基因。此外，对经证实的突变携带者中癌症风险的更好了解决定了长期管理，即监测和降低风险。然而，我们想对Woolderink等人的发现表示保留意见，更具体地讲，林奇患者中报告的高，低度浆液性卵巢癌数量有所报道，这一方面在讨论中没有得到适当解决。该研究包括878名妇女。有卵巢癌史53例，其中高或低度浆液性肿瘤19例（34％）。浆液性肿瘤的高比例是令人惊讶的，因为最近的文献强烈表明浆液性卵巢癌和Lynchsyndrome之间没有关联。我们选择了三篇高影响力的论文来支持我们的主张。 Rambau等。在175例浆液性卵巢癌中，没有发现MMR，MLH1，MSH2，MSH6，PMS2等四配体修复基因的蛋白表达丧失，而子宫内膜样和透明细胞的比例为25/181（13.8％）和4/163（2.4％）肿瘤（Rambau et al。，2016）。免疫组织化学（IHC）鉴定的表达缺失提示Lynch综合征，肿瘤内的微卫星不稳定性（MSI）提示这一点，因此需要对MMR基因进行随后的种系测试以确认诊断。在基于三种人群的研究中确定的一系列1893名患有上皮性卵巢癌的女性中，Pal等仅在2/933（0.2％）浆液性癌患者中诊断出Lynch综合征（Pal等人，2012），该频率低于一般人群中Lynch综合征发生率的估计值（Hampel和de la Chapelle，2013; Haraldsdottir等。 ，2017）。最后，Chui等。进行了针对20个突变确认的Lynchsyndrome卵巢癌的肿瘤亚型的集中病理检查（Chui等，2014）。浆液性组织学未见。

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