Eric Padron, MD, discusses the SRSF2 mutation in patients with MDS and CMML.
myelodysplastic syndromes (
chronic myelomonocytic leukemia
Eric Padron, MD, medical oncologist, Moffitt Cancer Center, discusses the SRSF2 mutation in patients with MDS) and (CMML).
Padron says that the SRSF2 mutation has a high frequency, especially in CMML, and probably happens early in the disease evolution. The mutation has also been proven to have some prognostic relevance but the role of the mutation is still unknown. Although the frequency of the mutation is high, Padron says, the location of the mutation is at a single proline.
An abstract at the 2013 ASH Annual Meeting and Exposition tried to identify the consequence of that mutation on the protein’s exact function, which is to bind RNA and aggregate in nuclear organelles called speckles.
Padron says the preliminary data seems to show that these mutations increase the affinity of RNA binding and augment the nuclear speckle dynamics. Further experiments may show that the mutation increases the activity of SRSF2.
Padron says the goal of this project is to see if the mutation is a target.