Dr. Rampal on the Evolving Understanding of Genomic Alterations in MPNs

Raajit K. Rampal, MD, PhD, hematologic oncologist, Memorial Sloan Kettering Cancer Center, discusses the evolving understanding of genetic alterations in myeloproliferative neoplasms (MPNs).

Aside from the principle driver mutations, research efforts have begun to home in on the role of other mutations in patients with MPNs, Rampal explains.

For example, certain mutations, such as ASXL2, IDH1/2, EZH2, SRSF2, and those in the RAS pathway, appear to confer a worse prognosis in patients with myelofibrosis, says Rampal.

Additionally, some evidence suggests that the presence of splicing factor mutations in patients with polycythemia vera or essential thrombocythemia is associated with a higher risk of progressing to myelofibrosis, Rampal explains.

Understanding the role of these genomic alternations may inform prognosis, as well as introduce the possibility of targeting these mutations therapeutically, which has not yet been done, Rampal concludes.