林奇综合征的基因学、诊断及治疗相关进展

Related progress in genetics,diagnosis and treatment of Lynch syndrome

林奇综合征(LS)是一种常染色体显性遗传性疾病,是由错配修复基因突变所致,临床上表现出微卫星不稳定性。存在这种突变的患者可同时或异时患有结直肠癌、林奇综合征有关的结肠外恶性肿瘤。自林奇综合征被定义后,相关基因学、诊断标准、监管手段及治疗方案不断更新,临床医生需掌握相关知识,运用于临床,提高林奇综合征的诊断率、监管及预防,才能为患者提供精准的治疗方案,提高疾病控制率,降低死亡率。本文现就林奇综合征的基因学、诊断学、监管及治疗等方面进行详细阐述。

Lynch syndrome(LS)is an autosomal dominant hereditary disease,which is caused by mutation of mismatch repair gene and is clinically manifested as microsatellite instability.Patients with this mutation may suffer from colorectal cancer and extracolonic malignant tumors associated with Lynch syndrome simultaneously or at different times.Since Lynch syndrome was defined,relevant genetics,diagnostic criteria,regulatory measures and treatment schemes have been continuously updated.Clinicians need to master relevant knowledge and apply clinical practice to improve the diagnosis rate,supervision and prevention of Lynch syndrome,in order to provide patients with accurate treatment schemes,improve disease control rate and reduce its mortality rate.In this paper,the genetics,diagnostics,supervision and treatment,etc.,of Lynch syndrome are described in detail.