关键词: 林奇综合征相关卵巢癌, 结直肠肿瘤, 遗传性非息肉性, 结直肠肿瘤, 子宫内膜肿瘤, 卵巢肿瘤, DNA错配修复, 基因检测, 诊断, 预防

Abstract: 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.

Key words: Lynch syndrome-associated ovarian cancer, Colorectal neoplasms, Hereditary nonpolyposis, Colorectal neoplasms, Endometrial neoplasms, Ovarian neoplasms, DNA mismatch repair , Genetic testing, Diagnosis, Prevention