Dr. Laramore on Genetic Testing in Hematologic Cancers

Andrew Laramore, MD, Anatomic and Clinical Pathology, Diagnostic Pathology Services, discusses some of the known genes that are tested for in hematologic malignancies.

Many genetic panels can test anywhere from 3 to 600 hotspots. However, pathologists are inundated with data, and the significance of the information doesn’t necessarily translate upfront. It's similar to “putting the cart in front of the horse” in some circumstances, says Laramore.

In chronic myeloid leukemia (CML), pathologists can do BCR-ABL1 fluorescence in situ hybridization testing. A positive result is most likely chronic myeloid leukemia. However, in many instances, mostly in myeloid dysplasia workups, pathologists will see mutations that are not clearly related to disease. They may simply be part of the normal aging process. The role of next-generation sequencing in the diagnosis of myeloid disorders, particularly neurologic deficit scores, will become very important in that regard.