TrovaGene said this week that it has obtained an exclusive worldwide license for mutations of the SF3B1 splicing factor that are associated with disease progression and chemotherapy response in chronic lymphocytic leukemia.
"Research results suggest that SF3B1 mutations represent important incremental diagnostic markers beyond TP53 disruptions and NOTCH1 mutations in CLL patients, and may also provide a therapeutic target for SF3B1 inhibitors, which are currently in pre-clinical development," TrovaGene said in a statement.
In a study published in Blood in December, the SF3B1 mutations covered by the license were shown to be associated with disease progression and chemotherapy response in CLL patients.
Gianluca Gaidano and Davide Rossi of Italy's Amedeo Avogadro University were the lead authors of the study published in Blood. They collaborated with Roberto Foa at Italy's Sapienza University, Riccardo Dalla-Favera of Columbia University, and others.
"Since CLL is the most frequent type of leukemia in adults, the discovery of SF3B1 mutations in this disease will affect a large number of patients worldwide. In particular, SF3B1 mutations may contribute to the early identification of patients destined to fail standard treatment, who instead might benefit from more aggressive therapeutic strategies," Gaidano said in a statement. "Future goals in SF3B1 research include the development of a robust molecular assay for diagnosis, and the exploitation of SF3B1 as a therapeutic target for this leukemia."
San Diego-based TrovaGene has been garnering rights to markers in hematological oncology. It currently has rights for mutations in the nucleophosmin gene used to diagnose acute myeloid leukemia and the BRAF V600E mutation for diagnostic use in hairy cell leukemia.
"We believe that SF3B1 mutations have the potential to become key components of standard diagnostic panels with clinical utility in the management of patients suffering from CLL," TrovaGene CEO Antonius Schuh said in a statement. The company is planning to launch laboratory-developed tests that interrogate SF3B1 mutations and other cancer-associated markers to which it has gained rights.
Separately, researchers led by Lili Wang of the Dana-Farber Cancer Institute published an article last week in the New England Journal of Medicine in which they analyzed 91 patient samples and identified nine driver genes and six distinct pathways associated with CLL. They found that SF3B1 was mutated in approximately 15 percent of study participants, and may be involved in cell-cycle control, angiogenesis, and apoptosis.