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| Status |
Public on May 01, 2014 |
| Title |
A Genomic Portrait of Resectable Hepatocellular Carcinomas: Implications of RB1 and FGF19 Aberrations for Patient Stratification. |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
Whole exome sequencing and copy number analysis was performed on 231 hepatocellular carcinomas (72% with hepatitis B viral infection) that were classified as early-stage hepatocellular carcinomas, candidates for surgical resection. Recurrent mutations were validated by Sanger sequencing. Unsupervised genomic analyses identified an association between specific genetic aberrations and postoperative clinical outcomes. Recurrent somatic mutations were identified in 9 genes, including TP53, CTNNB1, AXIN1, RPS6KA3, and RB1. Recurrent homozygous deletions in FAM123A, RB1, and CDKN2A, and high-copy amplifications in MYC, RSPO2, CCND1, and FGF19 were detected. Pathway analyses of these genes revealed aberrations in the p53, Wnt, PIK3/Ras, cell cycle, and chromatin remodelling pathways. RB1 mutations were significantly associated with cancer-specific and recurrence-free survival after resection (p = 0.016 and p = 0.001, respectively). FGF19 amplifications, known to activate Wnt signalling, were mutually exclusive with CTNNB1 and AXIN1 mutations, and significantly associated with cirrhosis (p = 0.017). RB1 mutations can be used as a prognostic molecular biomarker for resectable hepatocellular carcinoma. Further study is required to investigate the potential role of FGF19 amplification in driving hepatocarcinogenesis in patients with liver cirrhosis and to investigate the potential of anti-FGF19 treatment in these patients.
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| Overall design |
HCC samples classified at a surgically curable stage were analysed (n = 231 cases). Clinical features include tumour size, microvascular invasion, early recurrence, the Edmondson-Steiner histological grade, the fibrosis stage of the non-neoplastic liver tissue, and the serum alpha-fetoprotein levels. All specimens were obtained with the approval of the Institutional Review Board of Asan Medical Center, Seoul, South Korea, and with documented informed consent from patients.
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| Contributor(s) |
Ahn S, Jang SJ, Shim JH, Kim D, Hong S, Sung CO, Baek D, Haq F, Ansari AA, Lee SY, Chun S, Choi S, Kim J, Kim S, Hwang S, Lee Y, Lee J, Jung W, Jang HY, Yang E, Yu E, Lee HC, Kong G |
| Citation(s) |
24798001, 29776391 |
| Submission date |
Jan 29, 2014 |
| Last update date |
Jun 21, 2019 |
| Contact name |
Farhan Haq |
| E-mail(s) |
farhanhaq@gmail.com
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| Phone |
+82-010-4963-8477
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| Organization name |
Gachon University
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| Street address |
7-45, Songdo-dong, Yeonsu-gu
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| City |
Incheon |
| ZIP/Postal code |
406-840 |
| Country |
South Korea |
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| Platforms (1) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
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| Samples (462)
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| Relations |
| BioProject |
PRJNA236765 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE54504_RAW.tar |
49.3 Gb |
(http)(custom) |
TAR (of CEL, CYCHP) |
| Processed data provided as supplementary file |
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