Whole genome sequencing reveals the independent clonal origin of multifocal ileal neuroendocrine tumors.

ABSTRACT:

Background

Small intestinal neuroendocrine tumors (SI-NETs) are the most common neoplasms of the small bowel. The majority of tumors are located in the distal ileum with a high incidence of multiple synchronous primary tumors. Even though up to 50% of SI-NET patients are diagnosed with multifocal disease, the mechanisms underlying multiple synchronous lesions remain elusive.

Methods

We performed whole genome sequencing of 75 de-identified synchronous primary tumors, 15 metastases, and corresponding normal samples from 13 patients with multifocal ileal NETs to identify recurrent somatic genomic alterations, frequently affected signaling pathways, and shared mutation signatures among multifocal SI-NETs. Additionally, we carried out chromosome mapping of the most recurrent copy

SUBMITTER: Makinen N 

PROVIDER: S-EPMC9351068 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature