The 2016 published revision of the World Health Organization’s (WHO) classification of tumors and hematopoietic and lymphoid tissues provided pathologists with refinements to diagnosis, prognosis, and therapeutic approaches for myeloid neoplasms, but there is still much to discern, according to Nichon L. Grupka, MD.
on Hematologic Malignancies, Grupka, a pathologist at Novant Health Thomasville Medical Center, discussed advances in hematopathology, specifically mutations as prognostic indicators, disease-associated versus disease-causing mutations, and advice for physicians who are working to navigate the field.
OncLive: What advances have there been in hematopathology?
: The biggest advancement is the release of the 2016 WHO classification; that incorporates a whole area of somatic mutations. We’d like to use next-generation sequencing to determine if a patient who has an abnormality in their genome has MDS. We’re still figuring out if we can use this technology to define that criteria.
As I said, some mutations are not specific to a malignancy, and the presence of one may not mean anything for your 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 nonhematopoietic, like a propensity for arteriosclerosis. It’s a vast field, and it's changing rapidly. Plasma cells will likely play a role in the field, as well.
What are some mutations that have prognostic features?
Patients with an SF3B1
mutation typically are associated with a very specific morphologic pattern. Patients with MDS who are associated with a ring sideroblast, oftentimes have a [different] disease course. It really depends on the context of that particular disease as opposed to it showing up in a patient with CLL. Some people have a TET2
mutation, and a lot of these patients have a neutral prognosis. Is that actually a mutation that allows for other mutations to accumulate? Does its presence predispose to other conditions, or does it potentiate other conditions? That's the difficulty because most of them are not necessarily very specific.
Are there reasons why these mutations may carry these abnormalities?
Our genes have uniqueness, and we can have what's called polymorphisms. There’s the standard sequence of base pairs and DNA. Some people can have diversions, but it’s not necessarily disease-causing mutations. Usually you can sample bone marrow so you can determine whether or not it’s constitutional. You can take a buccal swab and sequence the DNA to see if they possess that polymorphism in an area of the body that isn’t suspected to have disease. Then you can determine whether or not it’s just a part of their makeup.
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