In patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) evolving from MDS (MDS/AML), somatic mutation information can be combined with revised International Prognostic Scoring System (IPSS-R) risk categorizations to predict post-transplant relapse risk, according to research presented at ASH.
Lead author Dr. Marianna Rossi of the IRCCS Humanitas Research Hospital and Humanitas University, Rozzano, Italy, presented results from a study of 401 patients with MDS and MDS/AML transplanted between 1997 and 2013 whose somatic mutations were known and outcomes were reported to the Italian transplant registry.
Previous research by the author found that ASXL1, RUNX1, and TP53 mutations were independent predictors of higher rates of relapse and lower overall survival after hematopoietic cell transplantation (HCT) in patients with MDS and MDS/AML.
In the results presented at ASH, Dr. Rossi described a new prognostic model that combined somatic mutations and IPSS-R risk categorizations to calculate a relapse risk index score, placing patients into 4 risk groups: low (score=0), intermediate (score=1-2), high (score=3), and very high (score=4). They found that in patients receiving standard pre-transplant conditioning, 5-year overall survival (OS) was 61%, 43%, 39%, and 19% for low, intermediate, high, and very high risk groups, respectively (p<0.001).
Five-year cumulative incidence of relapse were 9%, 19%, 24%, and 35% for low, intermediate, high, and very high risk groups, respectively (p=0.001). In patients receiving reduced-intensity conditioning, 5-year OS was 55%, 42%, 33%, and 15% for low, intermediate, high, and very high risk (p=0.003), while cumulative incidence of relapse were 12%, 25%, 39%, and 58%, respectively (p<0.001).
Based on their results showing that the integration of somatic mutations can significantly improve prognostic information in MDS and MDS/AML, the authors suggest that high-risk patients may benefit from undergoing HCT at an early disease stage.