PRKACA

Pathology

 Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes. (25449630)

 Recurrent DNAJB1-PRKACA chimeric transcript in fibrolamellar hepatocellular carcinoma. (24578576)

• Fibrolamellar carcinoma has a distinctive morphology and immunophenotype, including cytokeratin 7 and CD68 co-expression.
• Recently, fibrolamellar carcinomas were found to harbor a characteristic somatic gene fusion, DNAJB1-PRKACA.
• FISH for the PRKACA rearrangement is a clinically useful tool to confirm the diagnosis of fibrolamellar carcinoma, with high sensitivity and specificity.

See also

 DNAJB1-PRKACA

• DNAJB1
• fibrolamellar hepatocellular carcinoma
• chimeric transcript

 DNAJB1
 PRKACA

Open references

 Hepatocellular Carcinoma, Fibrolamellar Variant: Diagnostic Pathologic Criteria and Molecular Pathology Update. A Primer. 2016. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4808818/

 Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma. 2015. (24578576) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286414/