Lynch综合征相关子宫内膜癌新进展

子宫内膜癌是女性Lynch综合征患者最常见的肠外肿瘤,与散发性子宫内膜癌不同,该病是常染色体显性遗传病,病因及发病机制是错配修复基因(MLH1、MSH2、MSH6及PMS2)的突变或异常表达。患者发病年龄年轻,病理类型多样,包括子宫内膜样癌、透明细胞癌、浆液性癌、未分化癌或癌肉瘤等。由于该病再次发生肿瘤的风险较高,危害大,因此及时治疗Lynch综合征相关的子宫内膜癌是有效预防该类患者再次发生肿瘤的关键。就Lynch综合征相关子宫内膜癌的病因、发病机制、临床病理特征及诊断、治疗和筛查新进展进行综述。

The New Progress of Lynch Syndrome Related Endometrial Cancer

Endometrial carcinoma is the most common parenteral tumor in female patients with Lynch syndrome. The disease is different from sporadic endometrial carcinoma, which is autosomal dominant genetic disease, and the pathogenesis and mechanism are the abnormalities of mismatch repair genes (MLH1,MSH2,MSH6 and PMS2). Patients are much younger compared to sporadic endometrial carcinoma and pathological type is more diversity, including endometrial carcinoma, clear cell carcinoma, serous carcinoma and undifferentiated carcinoma and sarcoma, etc. Due to the higher risk of tumor recurrence and its great harmfulness of the disease,timely treatment of the Lynch syndrome related endometrial carcinoma is the key to inhibit the secondary tumor. This article is to summarize the new progress the etiology and pathogenesis of endometrial carcinoma ,the clinical pathological characteristics and diagnosis,treatment and screening of Lynch syndrome related endometrial carcinoma.