Fibrolamellar hepatocellular carcinoma (FL-HCC) is a rare form of liver cancer that affects young adults with no history of primary liver disease or cirrhosis.
Because the condition affects only one in 5,000,000 people, it has suffered from a lack of research effort in the past.
This means that little is known of FL-HCC molecular pathogenesis and, as it does not respond well to chemotherapy, surgery is the only option for sufferers.
However, a unique target identified in this condition could lead to the possibility of a targeted treatment.
A promising target
A recent study identified a genetic alteration found in livers affected by FL-HCC, but not in healthy livers.
Evidence suggests that the alteration, called the DNAJB1-PRKACA chimeric transcript, is present in all FL-HCC cases, implying that it contributes to tumor formation and growth.
If this is the case, a drug therapy that acts against this target could meet a significant unmet need in this indication.
Blueprint Medicines Corp currently has a small molecule drug that acts against this target in the discovery stage of development.