journal publication
Based on another study from the Simon lab, we have known that a gene fusion called DNAJB1-PRKACA produced a mutated protein kinase A (PKA) that causes 99% of cases of fibrolamellar carcinoma. In this study, the researchers found that this gene is not only important for the growth of FLC tumors but also that blocking …
Rare diseases like fibrolamellar are often poorly understood because of the difficulty in assembling accurate patient data and the lack of ICD billing codes specific to the disease. The most cited study of the incidence of FLC in the US, using data from the National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) Program, reports …
In this study, the researchers used a method called mass spectrometry to study the proteins and metabolites inside FLC tumors and compared them to normal liver tissue. They found that the proteins in FLC tumors are different from those in healthy liver tissue, which could explain why FLC cells react differently to certain drugs and …
This article describes work conducted at the University Hospital Tübingen on the creation of a therapeutic peptide vaccine for fibrolamellar carcinoma. Using FLC’s characteristic DNAJB1-PRKACA fusion protein, they designed a personalized peptide vaccine using fragments of that DNAJB1-PRKACA protein and administered it to a patient with FLC. The patient, a recipient of a liver transplant, …
This article, published in Nature Reviews Gastroenterology & Hepatology, summarizes the key advances made in understanding the disease since the 2014 discovery that nearly all FLC tumors contain the DNAJB1-PRKACA chimeric fusion transcript. The paper outlines the advances made in understanding the molecular pathways driven by the fusion protein and the potential to identify actionable …