The impact of mutational burden, spliceosome and epigenetic regulator mutations on transfusion dependency in dysplastic neoplasms

Objectives: Myelodysplastic neoplasms and dysplastic chronic myelomonocytic leukemia are characterized by cytopenia. Therefore, transfusion dependency is high in these dysplastic neoplasms. We investigated the impact of molecular genetics on the transfusion dependency in dysplastic neoplasms. Methods: We investigated the impact of the myeloid mutation burden on transfusion dependency in myelodysplastic neoplasms and dysplastic chronic myelomonocytic leukemia. In addition, the effect of different functional genetic groups, such as spliceosomes and epigenetic regulator gene mutations, on transfusion dependency was assessed in these patients. Confounding transfusion triggers were ruled out by the patient selection criteria and regression analyses. Results: A greater number of mutations lead to a higher transfusion dependency for red blood cells and platelet concentrates. A higher transfusion dependency was associated with a higher transformation to acute myeloid leukemia. Spliceosome mutations were associated with a higher transfusion dependency of red blood cell concentrates than epigenetic regulator mutations. Conclusions: Molecular genetics has the potential to improve the precision of patient blood management in dysplastic neoplasms.