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Genomic Analysis of Fibrolamellar Hepatocellular Carcinoma
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Julien Sage, PhD,  
Project

About This Dataset
Fibrolamellar hepatocellular carcinoma (FL-HCC) is a very rare and distinct subtype of hepatocellular carcinoma that occurs in the previously healthy livers of adolescents and young adults. The low incidence rate has kept FL-HCC an understudied cancer, thus the list of FL-HCC markers is limited and the genetic alterations driving its growth have remained unknown. In order to gain a better understanding of the molecular mechanisms underlying FL-HCC initiation and progression, we performed an in-depth genomic analyses of one tumor followed by immunohistochemistry validation on seven other tumors. We showed the expression of neuroendocrine markers in FL-HCC. In addition, DNA/RNA sequencing revealed that common cancer pathways are not visibly altered in FL-HCC but identified two novel structural variants, both resulting in fusion transcripts. Through in vitro studies, we demonstrated the oncogenic properties of these fusion transcripts. These experiments further highlight the tumorigenic role of gene fusions in the etiology of pediatric solid tumors and identify both candidate biomarkers and possible therapeutic targets for this lethal pediatric disease.
Core Data Elements
Number of Cases
8
Case Sex
Female (3); Male (5)
Case Age At Diagnosis
5 to 9 years (1); 10 to 14 years (2); 15 to 19 years (4); 20 to 24 years (1)
Case Race
Not Reported (8)
Case Ethnicity
Not Reported (8)
Case Disease Diagnosis
Fibrolamellar Hepatocellular Carcinoma (8)
Case Tumor Site
Liver (8)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
R01CA114102
The RB pathway in liver cancer
Published In
https://doi.org/10.1093/hmg/ddu418
Charts
Male (5); Female (3)
5Male