Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes

Clonal hematopoiesis as a hallmark of myelodysplastic syndrome (MDS) is mediated by the selective advantage of clonal hematopoietic stem cells in a context-specific manner. Although primary MDS emerges without known predisposing cause and is associated with advanced age, secondary MDS may develop in younger patients with bone marrow failure syndromes or after exposure to chemotherapy. This article discusses recent advances in the understanding of context-dependent clonal hematopoiesis in MDS, with focus on clonal evolution in inherited and acquired bone marrow failure syndromes.