Les progrès récents dans la leucémie myélomonocytaire chronique

Chronic myelomonocytic leukemia, which has long been associated with myelodysplastic syndromes, is a disease of the elderly that attracted recent interest. The numerous gene mutations identified in this disease in the last three years are never specific, but some of them (TET2, SRSF2, ASXL1) are observed with high frequency and generate in mouse models a phenotype that closely reproduces the human disease. Altered expression of some genes, either repressed through abnormal promoter methylation or overexpressed, is also part of the disease. Genotype/phenotype correlations progressively appear and these diverse gene alterations allow exploring the leukemic clone heterogeneity and architecture. Demethylating agents have proven their efficacy in the severe forms and new clinical trials specifically dedicated to the disease are now an absolute requirement to improve the outcome.