Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia.

The identification of those genes that are frequently mutated in malignancies is essential for a full understanding of the molecular pathogenesis of these disorders, and often for the provision of markers for the study of disease progression. Recently, mutation of the ASXL1 (additional sex combs 1) gene has been reported in 4 out of 35 patients (11%) with myelodysplastic syndromes (MDS) and in 17 out of 39 patients (43%) with chronic myelomonocytic leukemia (CMML), a disease classified as MDS/myeloproliferative disorder.