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| Status |
Public on Jan 22, 2015 |
| Title |
Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by high throughput sequencing
Expression profiling by high throughput sequencing
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| Summary |
Intrahepatic cholangiocarcinoma (iCCA) is a fatal bile duct cancer with dismal prognosis and limited therapeutic options. By performing RNA- and exome sequencing analyses we have discovered a novel fusion event, FGFR2-PPHLN1 (16%), and damaging mutations in the ARAF oncogene (11%).
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| Overall design |
Methods: mRNA and gDNA were exctracted from fresh frozen tumor tissues and corresponding normal tissue (n=8 pairs) from patients with iCCA who underwent surgical resection. RNA-seq was performed using Illumina HiSeq 2500 System with 100 nucleotide single-end reads. One sample and its paired non-tumoral tissue were eliminated from the subsequent analysis because of bad RNa quality. The same 8 paired tumors were also analyzed by whole-exome seq.
*** Submitter confirms there are no patient privacy concerns with these data. ***
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| Contributor(s) |
Losic B, Sia D |
| Citation(s) |
25608663 |
| Submission date |
Nov 18, 2014 |
| Last update date |
May 15, 2019 |
| Contact name |
Daniela Sia |
| Organization name |
Icahn school of Medicine at Mount Sinai
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| Department |
Liver Diseases
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| Street address |
1425 Madison Avenue
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| City |
New York |
| ZIP/Postal code |
10029 |
| Country |
USA |
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| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
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| Samples (30)
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| Relations |
| BioProject |
PRJNA267702 |
| SRA |
SRP050003 |
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