A joint study conducted by researchers at The Rockefeller University, Memorial Sloan Kettering Cancer Center and the New York Genome Center (NYGC) has has led to the discovery of an unusual mutation that can be linked to a rare liver cancer which affects teens and young adults.
Fibrolamellar is a rare liver cancer that affects just 200 people every year and there are no known causes and it very difficult to detect or treat. The researchers recruited around 15 people diagnosed with the disease and sequenced their RNA and DNA. They discovered that a portion of the DNA had been broken and rejoined, creating a mutated gene that was present in all the 15 patients and had the potential to wreak havoc in the bodies of individuals with the gene.
Elana Simon, who was part of the Rockefeller team and had been diagnosed with the disease six years ago, said that the mutated gene was linked with a kinase, an enzyme that modifies other proteins and overproduction of this kinase may lead to uncontrolled growth of the tumor.
"Because of the deletion and then rejoining of the DNA, a new gene that was a mixture of two previous genes was created, called a chimera. A number of other types of tumors have been shown to be driven by chimeras, but this one is unique — it codes for a kinase, an enzyme that modifies other proteins, that has not been identified in cancers", Elana said.