林奇综合征发生发展的研究进展

Research progress on the occurrence and development of Lynch syndrome

林奇综合征是最常见的遗传性结直肠癌综合征,其主要特征是对多系统癌症的易感性,主要表现为结直肠癌和子宫内膜癌的发生。林奇综合征的致癌倾向源于一组错配修复蛋白的基因结构的改变,失活的错配修复蛋白导致基因组中的微卫星高度不稳定性,随着时间的推移,微卫星以及基因组其他部位突变的积累可以影响细胞内重要功能蛋白的数量或活性,从而引起肿瘤的发生。林奇综合征相关的癌症与散发性癌症相比,具有不同的病理及临床特征,因此治疗与管理也与散发性癌症有所不同,所以对林奇综合征的鉴别诊断也就显得非常重要。近些年随着分子生物学研究的飞速发展,人们在林奇综合征的发病机理、诊断及治疗等方面取得了长足进展,本文将主要从林奇综合征的发病机制、临床特征、诊断、预防和治疗等方面对其最新研究进展进行综述,以期为大家详细展示该疾病的进展过程。

Lynch syndrome is currently recognized as the most common hereditary colorectal cancer syndrome,which is characterized by the predisposition to a series of cancers,mainly colorectal cancer and endometrial cancer.The carcinogenic tendency of Lynch syndrome stems from changes in the gene structure of a set of mismatch repair proteins.The inactivated mismatch repair protein causes high instability in the microsatellite region of the genome.Over time,the accumulation of mutations in microsatellites and other parts of the genome can affect the number or activity of proteins with important functions in cells,thereby stimulating tumorigenesis.In addition,compared with sporadic cancers,Lynch syndrome-associated cancers have different pathological and clinical characteristics,and the treatment and management of related cancers are also different from those of sporadic cancers.Therefore,the identification of Lynch syndrome diagnosis is very important.With the rapid development of molecular biology in recent years and people's exploration of Lynch syndrome for more than a century,Lynch syndrome has attracted more and more attention.In this review,we summarize the pathogenesis,clinical characteristics,diagnosis,prevention and treatment of Lynch syndrome.