林奇综合征与妇科肿瘤

林奇综合征（Lynch syndrome）又称为遗传性非息肉性结直肠癌综合征（HNPCC），属于常染色体显性遗传性疾病，是最常见的结直肠癌遗传形式。林奇综合征患者常会患有多种肿瘤，其中子宫内膜癌及卵巢癌与其关系最为密切，可以视为林奇综合征的“前哨”肿瘤。在诊断患有林奇综合征的女性中，其患子宫内膜癌的终生风险（60%）会高于患结直肠癌的风险。结合临床表现标准及肿瘤分子学评估可以对其进行高效的诊断。在林奇综合征的女性患者中，应每1～2年（而不是每年）进行子宫内膜活检，在生育结束后行预防性手术可以起到有效的筛查及预防作用。对林奇综合征及其相关的子宫内膜癌及卵巢癌不断有新的研究进展，主要对林奇综合征的诊断、相关的子宫内膜癌及卵巢癌进行综述。

Lynch Syndrome and Gynecologic Oncology

Lynch syndrome, an autosomal dominant inherited cancer susceptibility syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most prevalent hereditary modality of colorectal cancer. Patient with Lynch syndrome are often diagnosed more than one kind of cancer, such as endometrial cancer or ovarian cancer, which can function as a"sentinel"cancer in Lynch syndrome. For women with Lynch syndrome, the lifetime risk of endometrial carcinoma (EC, up to 60%) may exceed their risk of colorectal cancer (CRC). It is an efficient strategy to combine clinical criteria with immunohistochemistry assessment. By means of endometrial biopsy(1 to 2 years, not every year) and risk-reducing surgery after delivery, women with Lynch syndrome will get efficient screening and prevention. And we are continually getting new discoveries of Lynch syndrome and Lynch syndrome related endometrial cancer and ovarian cancer. In this review, we summarized the clinical criteria of screening the Lynch syndrome and the characteristics of Lynch syndrome related endometrial cancer and ovarian cancer.