Dr. Grupka on Mutations in Patients With Myelodysplastic Syndrome

Nichon L. Grupka, MD, pathologist, Novant Health Thomasville Medical Center, discusses the manifestations of mutations in myelodysplastic syndrome (MDS).

A majority of mutations in MDS are not necessarily specific to a particular disease entity. For instance, if someone has a t(9;22), a Philadelphia chromosome, they are likely to have chronic myeloid leukemia. However, if they have a SF3B1 mutation, the patient could have chronic lymphocytic leukemia or MDS. The same is true with the BRAF mutation in non-hematologic malignancies and hairy cell leukemia.

Some mutations are not specific to a malignancy, and the presence of one may not mean anything for a patient at that time. It might mean that they have a predisposition to a malignancy downstream, or it might mean they have a predisposition to something non-hematopoietic, like a propensity for arteriosclerosis. It’s a vast field, and it's changing rapidly, says Grupka. Plasma cells will likely play a role in the field as well.