{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yachida S"],"funding":["AMED","Cancer Research and Therapeutic Evolution"],"pagination":["692-711"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9394397"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(3)"],"pubmed_abstract":["The neuroendocrine carcinoma of the gastrointestinal system (GIS-NEC) is a rare but highly malignant neoplasm. We analyzed 115 cases using whole-genome/exome sequencing, transcriptome sequencing, DNA methylation assays, and/or ATAC-seq and found GIS-NECs to be genetically distinct from neuroendocrine tumors (GIS-NET) in the same location. Clear genomic differences were also evident between pancreatic NECs (Panc-NEC) and nonpancreatic GIS-NECs (Nonpanc-NEC). Panc-NECs could be classified into two subgroups (i.e., \"ductal-type\" and \"acinar-type\") based on genomic features. Alterations in TP53 and RB1 proved common in GIS-NECs, and most Nonpanc-NECs with intact RB1 demonstrated mutually exclusive amplification of CCNE1 or MYC. Alterations of the Notch gene family were characteristic of Nonpan"],"journal":["Cancer discovery"],"pubmed_title":["Comprehensive Genomic Profiling of Neuroendocrine Carcinomas of the Gastrointestinal System."],"pmcid":["PMC9394397"],"funding_grant_id":["JP21ck0106690","JP17cm0106612","JP15ck0106138","JP21ck0106693","JP21ck0106558","JP21ck0106547","JP20jk0210009","JP16ck0106138"],"pubmed_authors":["Takata S","Suzuki M","Furukawa E","Hirono S","Shimomura A","Morizane C","Brosens LAA","Hashimoto T","Shiba S","Kanda M","Shibata T","Horie M","Kato M","Wood LD","Oshima M","Totoki Y","Mitsunaga S","Okumura T","Higuchi R","Rokutan H","Hackeng WM","Tanaka H","Yamamoto M","Nakamura H","Yamaue H","Arihiro K","Takai E","Arai Y","Noe M","Nakatani Y","Hruban RH","Sato T","Kawasaki K","Yachida S","Furukawa T","Kiyono T","Saito-Adachi M","Okano K","Hama N"],"additional_accession":[]},"is_claimable":false,"name":"Comprehensive Genomic Profiling of Neuroendocrine Carcinomas of the Gastrointestinal System.","description":"The neuroendocrine carcinoma of the gastrointestinal system (GIS-NEC) is a rare but highly malignant neoplasm. We analyzed 115 cases using whole-genome/exome sequencing, transcriptome sequencing, DNA methylation assays, and/or ATAC-seq and found GIS-NECs to be genetically distinct from neuroendocrine tumors (GIS-NET) in the same location. Clear genomic differences were also evident between pancreatic NECs (Panc-NEC) and nonpancreatic GIS-NECs (Nonpanc-NEC). Panc-NECs could be classified into two subgroups (i.e., \"ductal-type\" and \"acinar-type\") based on genomic features. Alterations in TP53 and RB1 proved common in GIS-NECs, and most Nonpanc-NECs with intact RB1 demonstrated mutually exclusive amplification of CCNE1 or MYC. Alterations of the Notch gene family were characteristic of Nonpan","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2026-06-06T01:12:50.923Z","creation":"2025-04-05T21:01:50.91Z"},"accession":"S-EPMC9394397","cross_references":{"pubmed":["34880079"],"doi":["10.1158/2159-8290.CD-21-0669"]}}