Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma

• Published in: Science (American Association for the Advancement of Science) Vol. 343; no. 6174; pp. 1010 - 1014
• Main Authors: Honeyman, Joshua N., Simon, Elana P., Robine, Nicolas, Chiaroni-Clarke, Rachel, Darcy, David G., Lim, Irene Isabel P., Gleason, Caroline E., Murphy, Jennifer M., Rosenberg, Brad R., Teegan, Lydia, Takacs, Constantin N., Botero, Sergio, Belote, Rachel, Germer, Soren, Emde, Anne-Katrin, Vacic, Vladimir, Bhanot, Umesh, LaQuaglia, Michael P., Simon, Sanford M.
• Format: Journal Article
• Language: English
• Published: United States American Association for the Advancement of Science 28.02.2014; The American Association for the Advancement of Science
• Subjects: Adolescents; Antibodies; Cancer; Carcinoma, Hepatocellular - enzymology; Carcinoma, Hepatocellular - genetics; Chimeras; Chromosome Deletion; Chromosomes, Human, Pair 19 - genetics; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits - chemistry; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits - genetics; DNA sequence analysis; Exons; Gene Expression Regulation, Neoplastic; Genomes; Genomics; HSP40 Heat-Shock Proteins - chemistry; HSP40 Heat-Shock Proteins - genetics; Humans; Introns; Kinases; Liver; Liver cancer; Liver Neoplasms - enzymology; Liver Neoplasms - genetics; Oncogene Proteins, Fusion - genetics; Pathogenesis; Protein Multimerization; Protein Structure, Tertiary; Proteins; Transcription, Genetic; Transcripts (Written Records); Tumor Cells, Cultured; Tumors; Young Adults

Fibrolamellar hepatocellular carcinoma (FL-HCC) is a rare liver tumor affecting adolescents and young adults with no history of primary liver disease or cirrhosis. We identified a chimeric transcript that is expressed in FL-HCC but not in adjacent normal liver and that arises as the result of a ∼400...