Recent studies suggest that the wildtype RUNX1 is required for growth and survival of certain types of leukemia cells. The role of RUNX1 in hematological malignancies was addressed in a recent review.

The authors note that RUNX1 is a member of the core binding factor family of transcription factors and is indispensable for the establishment of definitive hematopoiesis in vertebrates. They add that RUNX1 is one of the most frequently mutated genes in a variety of hematological malignancies. Germline mutations in RUNX1 cause familial platelet disorder with associated myeloid malignancies. Somatic mutations and chromosomal rearrangements involving RUNX1 are frequently observed in myelodysplastic syndrome and leukemias of myeloid and lymphoid lineages.