Variants in the SF3B1 splicing factor have been linked to prognosis and chemotherapy response.
TrovaGene obtained an exclusive, worldwide license to mutations of the SF3B1 splicing factor that are reportedly associated with disease progression and chemotherapy response in patients with chronic lymphocytic leukemia (CLL). The findings were published in the December 22 issue of Blood in an article titled “Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness.” A U.S. patent application is pending.
Research results suggest that SF3B1 mutations represent important incremental diagnostic markers beyond TP53 disruptions and NOTCH1 mutations in CLL patients. Gianluca Gaidano and Davide Rossi at the Amedeo Avogadro University in Italy led the research team that discovered the SF3B1 mutations.
TrovaGene says today’s agreement is part of its strategy to build a franchise of markers in hematological oncology, including mutations in the nucleophosmin gene for the diagnosis of acute myeloid leukemia and the BRAF V600E mutation for diagnostic use in hairy cell leukemia.
“We plan to offer laboratory-developed tests to detect SF3B1 mutations and to identify opportunities for the development of in vitro diagnostic products incorporating our proprietary markers,” says Antonius Schuh, TrovaGene’s CEO.
TrovaGene owns worldwide rights to nucleophosmin-1. The company has U.S. and European patent applications and issued patents that cover testing for HPV and other infectious diseases, cancer, transplantation, prenatal, and genetic testing.