Journal article
Whole-genome sequencing reveals the mutational landscape of metastatic small-cell gallbladder neuroendocrine carcinoma (GB-SCNEC)
Cancer letters, v 391, pp 20-27
10 Apr 2017
PMID: 28040546
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Small-cell gallbladder neuroendocrine carcinoma (GB-SCNEC) is a relatively rare histological type of gallbladder cancer, and the genomic landscape of GB-SCNEC is rarely considered in treatment decisions. We performed whole-genome sequencing on an advanced case of GB-SCNEC. We identified approximately 900 high-quality somatic single nucleotide variants (SNVs) and small insertions and deletions (INDELs), 109 of which were shared by both the primary and metastatic tumor tissues. Somatic non-synonymous coding variations with damaging impact in HMCN1 and CDH10 were observed in both the primary and metastatic tissue specimens. A pathway analysis of the genes mapped to the SNVs and INDELs revealed gene enrichment associated with axon guidance, ERBB signaling et al. Furthermore, we identified 11 deletions, 4 tandem duplications and 5 inversions that mapped to known genes. Two gene fusions, NCAM2-SGCZ and BTG3-CCDC40 were also discovered and validated by Sanger sequencing. Additionally, we identified genome-wide copy number variations and microsatellite instability. In this study, we identified novel biological markers of GB-SCNEC that may serve as valuable prognostic factors or indicators of treatment response in patients with GB-SCNEC with lymphatic metastasis.
•The incidence of GB-SCNEC is extremely low with poor prognosis.•This study firstly examined the whole-genome somatic mutations of an advanced GB-SCNEC case.•Non-silent variations in HMCN1 and CDH10 were observed in both the primary and metastatic tumors.•The mutant genes of GB-SCNEC were enriched with ERBB signaling pathway and axon guidance et al.•Structure variations, copy number variations and MSI instabilities were also observed.
Metrics
Details
- Title
- Whole-genome sequencing reveals the mutational landscape of metastatic small-cell gallbladder neuroendocrine carcinoma (GB-SCNEC)
- Creators
- Maolan Li - Shanghai Jiao Tong UniversityFatao Liu - Shanghai Jiao Tong UniversityYijian Zhang - Shanghai Jiao Tong UniversityXiangsong Wu - Shanghai Jiao Tong UniversityWenguang Wu - Shanghai Jiao Tong UniversityXu-An Wang - Shanghai Jiao Tong UniversityShuai Zhao - Shanghai Jiao Tong UniversityShibo Liu - Shanghai Jiao Tong UniversityHaibin Liang - Shanghai Jiao Tong UniversityFei Zhang - Shanghai Jiao Tong UniversityQiang Ma - Shanghai Jiao Tong UniversityShanshan Xiang - Shanghai Jiao Tong UniversityHuaifeng Li - Shanghai Jiao Tong UniversityLin Jiang - Shanghai Jiao Tong UniversityYunping Hu - Shanghai Jiao Tong UniversityWei Gong - Shanghai Jiao Tong UniversityYun Zhang - Dapartment of Hepatobiliary and Laparoscopic Surgrey, The Affiliated Yixing Hospital of Jiangsu University, Yixing, 214200, ChinaTieliang Ma - Dapartment of Hepatobiliary and Laparoscopic Surgrey, The Affiliated Yixing Hospital of Jiangsu University, Yixing, 214200, ChinaKai Zhang - Dapartment of Hepatobiliary and Laparoscopic Surgrey, The Affiliated Yixing Hospital of Jiangsu University, Yixing, 214200, ChinaYun Liu - Fudan UniversityYingbin Liu - Shanghai Jiao Tong UniversityHualou Liang - School of Biomedical Engineering, Science, and Health Systems (1997-)
- Publication Details
- Cancer letters, v 391, pp 20-27
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- School of Biomedical Engineering, Science, and Health Systems; Civil, Architectural, and Environmental Engineering
- Web of Science ID
- WOS:000397367000003
- Scopus ID
- 2-s2.0-85011016471
- Other Identifier
- 991019320713404721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Oncology