Dr. Amy DeZern on Peripheral Blood Mutation Correlations With Bone Marrow in MDS

Amy DeZern, MD, MHS, Professor of Oncology and the Vice Chair for Hematologic Malignancies at Johns Hopkins School of Medicine in Baltimore, Maryland, spoke with Heme Today regarding clinical evaluation of myelodysplastic syndromes (MDS).

Dr. DeZern led a team of researchers who compared variant allele frequencies of somatic mutations in peripheral blood versus in bone marrow among patients with MDS. They performed this work using real-world prospective data from the National MDS Natural History Study and reported their findings in a research letter published in Blood Neoplasia.

Bone marrow biopsy is a standard method for clinically evaluating cytopenic myeloid disorders or blood cancers, but it is a painful procedure for patients to undergo. Therefore, Dr. DeZern’s team sought to determine how revealing peripheral blood analysis is of bone marrow mutations in patients and whether it could serve as an alternative evaluation approach.

The team found that, although somatic mutations were shared between bone marrow and peripheral blood in patients, variant allele frequencies for a mutation in bone marrow were higher than for the same mutation in peripheral blood.

“It looks like from our data, which is supported by other reports in the literature, that if the mutation is with a variant allele frequency of less than about ten percent, you really can’t see it in the peripheral blood and you do need that bone marrow to follow it,” Dr. DeZern summarized of the findings.

However, Dr. DeZern emphasized that this ability to detect aberrant clonality in blood still has promising utility in the management of MDS, blood cancers, and several other diseases. Regarding MDS, researchers are still prospectively gathering data to learn clinically useful thresholds of clonal hematopoiesis in blood which clinicians could then apply to their treatment decision-making.

“It’s a really unique time where we have those technologies and now we’re tying it back to the clinic and making sure it makes sense for patients. It’s a very happy time in myeloid malignancies as we blend the science and the bedside clinical care,” Dr. DeZern explained.

Outside of these technologies, Dr. DeZern noted the usefulness for MDS clinicians of remembering “[t]he blood is a very sensitive organ will often be able to pick up things based on what’s going on in the rest of the human being systemically, and hematologists have a role to help the patients and their providers understand that.”