林奇综合征相关卵巢癌新进展

New Progress in Lynch Syndrome-Associated Ovarian Cancer

林奇综合征(Lynch syndrome,LS)是一种常染色体显性肿瘤综合征,是由DNA错配修复(MMR)基因中的一个胚系突变使细胞具有高微卫星不稳定表型(MSI-H)的超突变或缺乏MMR蛋白表达从而引起肿瘤的发生。突变携带者具有罹患结直肠癌、子宫内膜癌和卵巢癌等一系列恶性肿瘤的高风险。虽然LS中最常见的是结直肠癌,但约有60%的LS首发癌为妇科恶性肿瘤(如子宫内膜癌、卵巢癌等),且其被诊断年龄较早、组织病理学大多为子宫内膜样或非浆液性类型、总体存活率良好。因此及时发现LS相关卵巢癌(LSAOC)这一亚类,对于预防LS患者其他肿瘤的发生,提高LS患者的生存率具有重要意义。目前关于LS的发病机制、组织病理学等方面不断有新的探索,现就LSAOC的早期诊断、组织病理学、筛查及降低风险方案的最新进展进行综述。

Lynch syndrome (LS) is an autosomal dominant tumor syndrome, which is caused by a embryogenic mutation in a DNA mismatch repair (MMR) gene that causes the cell to have a microsatellite instablility-high (MSI-H) of super mutation or lack of MMR protein expression and thus causes the occurrence of tumor. Mutant carriers get a high risk of elaborating a range of malignancies such as colorectal cancer, endometrial cancer and ovarian cancer. Although the most common LS is colorectal cancer, about 60% of LS first cancers are gynecological malignancy (such as endometrial cancer, ovarian cancer), and they are diagnosed at an earlier age, most of the histopathology is endometrial or non-serous type, and the overall survival rate is good. Therefore, the timely discovery of the subclass of Lynch syndrome-associated ovarian cancer (LSAOC) is of great significance for preventing the occurrence of other tumors in LS patients and improving the survival rate of LS patients. At present, there are new explorations on the pathogenesis, histopathology and other aspects of LS. This paper reviews the latest progress of early diagnosis, histopathology, screening and risk reduction programs for LSAOC.