Analysis of cell mutation types of colorectal neuroendocrine tumors

Abstract

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

Keywords

• colorectal neuroendocrine tumors|single nucleotide mutations|insertion and deletion mutations|copy number variations|structural variations