Dr. Palmer on Molecular Abnormalities in Myeloproliferative Diseases

Jeanne M. Palmer, MD, hematologist oncologist, Mayo Clinic, discusses molecular abnormalities in myeloproliferative diseases, including polycythemia vera (PV) and the use of next-generation sequencing in identifying these mutations.

JAK2 is the most common mutation in patients with PV. Physicians either see JAK2, JAK2 exon 12, or some other mutation in the JAK protein, says Palmer. In other myeloproliferative diseases, physicians look for calreticulin mutations and MPL mutations. However, these mutations are not commonly seen in patients with PV.

The other mutations that physicians should look for are gathered with next-generation sequencing (NGS). NGS is a way to do a very broad overview of mutations that can occur with any myeloid malignancy. Panels can run anywhere from a 29-gene panel to an approximate 100-gene panel. A few of these genes have been found to carry prognostic value in patients with PV, states Palmer.