These Gene Mutations May Predict MDS Disease Progression

By Kerri Fitzgerald - Last Updated: February 1, 2021

A study published in Hematology, Transfusion & Cell Therapy found that FLT3NPM1IDH1, and IDH2 gene mutations may be biomarkers of disease progression in patients with myelodysplastic syndromes (MDS).

A common complication of MDS is progression to acute myeloid leukemia (AML), but the events associated with the progression to AML are poorly understood. In this study, researchers sought to estimate the frequency of common myeloid clonal mutations (FLT3NPM1JAK2IDH1, and IDH2) in 88 patients with newly diagnosed MDS and 35 with AML, 17 of whom had both a clinical history of MDS preceding the AML and overt multilineage dysplasia in ?50% of bone marrow cells at diagnosis. The study took place at a single reference center in northeastern Brazil.

Nine patients with MDS (10%) had at least one mutation, with the JAK2 V617F mutation being the most common (n=3; 3.5%). Nine patients with secondary AML (26%) had at least one mutation, with FLT3NPM1IDH1, and IDH2 being the most common.

There was a higher frequency of FLT3NPM1IDH1, and IDH2 mutations in patients with high-risk MDS than those with lower-risk disease.

“Our preliminary observations suggest that mutations in the FLT3NPM1IDH1, and IDH2 genes can be potential biomarkers of disease progression in [patients with] MDS,” the researchers concluded. “Studying the dynamics of these mutations in MDS and integrating [these] data with other approaches, such as cytology, karyotype, and immunophenotype, may contribute to a more refined detection of disease progression in earlier stages, providing a broader window of opportunity for therapeutic intervention.”