摘要
林奇综合征(LS)是最常见的遗传性肿瘤综合征,其阳性患者患结直肠癌、子宫内膜癌以及胃癌的风险增高。LS是指存在错配修复基因缺失的个体,包括已经因错配修复基因突变而发生肿瘤或未发生肿瘤的个体。由于中国对LS的研究起步较晚,目前并未形成完整的诊疗标准或指南,所以主要参考国外已经形成的标准或指南。但由于人种差异,极易造成误诊和漏诊现象。本文就LS的遗传基础、临床分型以及目前诊断策略、筛查方式、临床治疗手段进行文献综述。
引文
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