journal publication
In this study, researchers reviewed the detailed medical records of 262 patients under age 20 diagnosed with liver cancers, assembled from 19 different hospitals and covering the years 1990 to 2017. This represents the richest available source of data on these pediatric liver cancers. They found that 119 (45%) of the tumors had been classified …
Nearly all FLC tumors carry the fusion gene DNAJB1-PRKACA and the expressed protein chimera DNAJ-PKAc which is believed to be the driver of FLC formation. However, to identify potential new therapies for FLC, it is important to understand the specific mechanisms that drive the progression of the disease. In a previous study, the Sethupathy lab …
“Organoids,” three-dimensional cell cultures that mimic critical features of normal human organs, are a novel tool to study fundamental steps in the development of cancers. The authors of this paper, a team from Utrecht, The Netherlands, wanted to understand how specific genetic alterations contribute to the transformation of normal liver cells into fibrolamellar carcinoma (FLC). …
In this study, published in March 2024, the researchers looked at how a patient’s immune system responds to the protein produced by the fusion of the genes DNAJB1 and PRKACA in FLC. Specifically, the team aimed to understand how the immune system’s “killer” T cells (CD8s) respond to this mutation and evaluate T cell receptors …
This study sequenced the DNA from FLC tumors and compared the results to the DNA from non-cancerous tissue from the same patients to identify the specific mutations that had occurred in the cancer. In the 10 samples examined, the only consistent mutation was the DNAJB1-PRKACA fusion gene. Since the only consistent mutation found was the …
This study looked for associations between demographic, clinical factors and overall survival using data from the Fibrolamellar Registry. Several key findings emerged: In conclusion, while this study provides insights into factors associated with survival in FLC patients, further research is needed to better understand this rare cancer. The full text of the publication can be …
Historically, fibrolamellar carcinoma (FLC) has been diagnosed by analyzing the histology (microscopic anatomy) and morphology (shape, size and structure) of the tumor tissue. Frequently, that examination is combined with immunostaining for cytokeratin 7 and CD68. That immunostaining uses antibodies to see if proteins typically found in FLC are present. However, accurate diagnosis of fibrolamellar carcinoma …
Fibrolamellar carcinoma (FLC) is driven by the fusion protein DNAJ-PKAc. That protein is made up of two different parts, one that helps with protein folding (DNAJB1) and another (protein kinase A) that’s typically involved in cell signaling. In this study, researchers have found that DNAJ-PKAc acts like a scaffold, bringing together other proteins that contribute …
This is the first published case report of a near-complete clinical remission of fibrolamellar carcinoma (FLC) in a patient treated with immunotherapy. A 22-year-old woman had advanced disease with widespread metastases. Chemotherapy did not halt the progression of the cancer. Drs. Enrico De Toni and Daniel Roessler (University Hospital, Munich, Germany) elected to try a …