Whole genome sequencing of colorectal neuroendocrine tumors and in-depth mutational analyses
- 18 May 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Medical Oncology
- Vol. 37 (6), 1-6
- https://doi.org/10.1007/s12032-020-01356-y
Abstract
Colorectal neuroendocrine tumors (NETs) are rare neoplasms and studies on colorectal NETs are relatively few compared to other tumors. To better understand the pathogenesis of this tumor, we performed whole-genome sequencing and follow-up verification using Sanger sequencing of the colorectal NETs and paired para-tumor tissue. We analyzed the features of the gene mutation spectrum and mutation signature patterns, and analyzed the four pathways that were altered by gene mutation in pancreatic neuroendocrine tumors, including DNA damage and repair, chromatin remodeling, telomere maintenance and mTOR signaling activation. We found that PARP4 which is related to the DNA damage and repair pathway; TSC2, which is related to the mTOR signaling activation pathway; and SLX1A, which is related to telomere maintenance, were mutated in colorectal NETs. Our data analyzed characteristics of gene mutation in colorectal NETs at the whole-genome level, and may help to better understand the pathogenesis of colorectal NETs and may be helpful for potential tumor therapy in the future.Funding Information
- Young Scientists Fund (81801627, 81702933)
- Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences and Peking Union Medical College (2017-I2M-1-001)
- Non-profit Central Research Institute Fond (2018RC32002)
- Fundamental Research Funds for the (3332018026)
This publication has 16 references indexed in Scilit:
- Germline PARP4 mutations in patients with primary thyroid and breast cancersEndocrine-Related Cancer, 2015
- Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomasNature Communications, 2015
- Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencingOncotarget, 2015
- Molecular characteristics of colorectal neuroendocrine carcinoma; similarities with adenocarcinoma rather than neuroendocrine tumorHuman Pathology, 2015
- Prognostic impact of p16 and p21 on gastroenteropancreatic neuroendocrine tumorsOncology Letters, 2013
- Signatures of mutational processes in human cancerNature, 2013
- Colorectal Poorly Differentiated Neuroendocrine Carcinomas and Mixed Adenoneuroendocrine CarcinomasThe American Journal of Surgical Pathology, 2012
- Adenomatous polyposis coli alteration in digestive endocrine tumours: correlation with nuclear translocation of -catenin and chromosomal instabilityEndocrine-Related Cancer, 2008
- The 193-Kd Vault Protein, Vparp, Is a Novel Poly(Adp-Ribose) PolymeraseThe Journal of cell biology, 1999
- Concordance of Genetic Alterations in Poorly Differentiated Colorectal Neuroendocrine Carcinomas and Associated AdenocarcinomasJNCI Journal of the National Cancer Institute, 1997