结直肠神经内分泌肿瘤细胞突变类型分析

Analysis of cell mutation types of colorectal neuroendocrine tumors

目的 探讨结直肠神经内分泌肿瘤(NETs)的突变类型,更好地了解结直肠NETs的发病机制。方法 招募结直肠NETs手术患者,取结直肠NETs和对应的癌旁组织,并进行全基因组测序(WGS)和进一步深入分析。结果 通过WGS测序发现,结直肠NETs突变类型多样,包括单核苷酸突变、小片段序列的插入和缺失突变(InDel)、基因拷贝数变异(CNV),以及大的结构性变异(SV)如插入(INS)、缺失(DEL)、染色体内易位(ITX)、染色体间易位(CTX)和反转(INV)等。结论 在结直肠NETs发生时,体细胞发生了大量的突变,尤其以染色体CTX变异最为显著。

Objective To investigate the mutation types of colorectal neuroendocrine tumors(NETs)and better understand the pathogenesis of colorectal nets.Methods Patients undergoing colorectal NETs surgery were recruited,colorectal NETs and corresponding adjacent cancerous tissues were collected,and whole genome sequencing(WGS)was performed and further deeply analyzed.Results WGS sequencing showed that the mutation types of colorectal NETs included single nucleotide mutations,insertion and deletion mutations(InDel,less than 50 bp in length),copy number variations(CNV),and large structural variations(SV,more than 50 bp in length),such as insertion(INS),deletion(DEL),intra chromosomal translocation(ITX),inter chromosomal translocation(CTX)and inversion(INV).Conclusions A large number of somatic mutations occur in colorectal NETs,especially chromosome translocation.