Like many rare diseases, fibrolamellar hepatocellular carcinoma (FLC) mounts a ferocious attack against an unlucky few-in this case, children, adolescents, and young adults.
Rockefeller UniversityJan 17 2025 Like many rare diseases, fibrolamellar hepatocellular carcinoma mounts a ferocious attack against an unlucky few-in this case, children, adolescents, and young adults. Because its symptoms can vary from person to person, it's often missed or misdiagnosed until it has metastasized and becomes lethal. Moreover, drug therapies for common liver cancers are not just useless for FLC patients but actually harmful.
A decade of insights In 2014, Simon's team-led in part by his own then-teenage daughter, Elana, who had been diagnosed with FLC a few years before-discovered that the disease was caused by the fusion of two genes, DNAJB1 and PRKACA, caused by a small deletion in chromosome 19. The signature To find out, the researchers performed a massive analysis of multiomics sequencing data from 1,412 tumors caused by a variety of liver cancers. It was the largest such analysis to date, with 220 samples from FLC tumors-more than six times as many as have been included in any prior study.
They also found that any change in DNA that increased the amount of catalytic subunit relative to its regulatory subunit produced the same changes in the transcriptome. Some patients, for example, had a fusion to PRKACA in the ductal cells of the liver, producing cholangiocarcinoma, or in the ductal cells of the pancreas, producing intraductal pancreatic oncolytic neoplasms .
They also compared the tumor transcriptomes against those of normal tissue samples taken from the margins of tumors found in FLC patients. Surprisingly, one had the FLC signature. Upon closer re-examination of the tissue, they spotted fibrous spans typical of the disease and cells that had the fusion transcript of DNAJB1::PRKACA. Removal of the tumor hadn't captured all FLC cells. Such hidden time bombs could result in new cancer growth.
Clinical Trial Liver Adolescents Carcinoma Cell Children DNA Gene Genes Hepatocellular Carcinoma Laboratory PKA Protein Research Therapeutics Tumor
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