The findings have been published in the Dec 22 issue of BLOOD, the journal of the American Society of Hematology, in an article titled "Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-
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. Gianluca Gaidano and Davide Rossi at the Amedeo Avogadro University (Novara, Italy), lead the research team, in collaboration with their colleague Roberto Foa at the Sapienza University (Rome, Italy) that discovered the SF3B1 mutations.
"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. 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," stated Gianluca Gaidano.
TrovaGene has been building a franchise of proprietary markers in hematological oncology, including mutations in the nucleophosmin gene (NPM1), which are today widely used in the diagnosis of acute myeloid leukemia (AML), and the BRAF V600E mutation for diagnostic use in hairy cell leukemia (HCL).
"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," states Antonius Schuh, TrovaGene's Chief Executive Officer. "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."
Schuh said TrovaGene has a dominant patent position relating to transrenal molecular testing.
TrovaGene, headquartered in San Diego, has focused on the development of its patented technology for the detection of transrenal DNA and RNA, short nucleic acid fragments, originating from normal and diseased cell death that cross the kidney barrier and can be detected in urine.
The Promotion Factory
5. E. 19th St.
New York, NY 10003
T. +1 (212) 217 9065