Chronic myelomonocytic leukemia (CMML): recent advances in molecular pathogenesis and treatment

Abstract

Chronic myelomonocytic leukemia (CMML) is one of the clonal myeloid neoplasms characterized by persistent monocytosis and dysplasia of myeloid lineage cells. Thus, CMML includes characteristics of both myelodysplastic syndromes and myeloproliferative neoplasms. Clinical features of CMML are quite heterogeneous. There are no disease-specific gene mutations although more than 90% of CMML patients have one or more gene mutations, and most mutations detected in CMML are also seen in other myeloid malignancies. Among these mutations, ASXL1 mutations negatively affect the disease outcome. Moreover, it has been clarified that the clonal architecture of CMML is characterized by linear accumulation of mutations. Recently, international consortium perspectives in diagnostic recommendations and response criteria were published, and clinical reports on CMML, including a new diagnostic method, molecularly integrated CMML-specific prognostic models and therapeutic trials, are increasing. However, despite the existence of several prognostic models of CMML, formal guidelines for the management of CMML are still lacking. An international consortium proposal of uniform guidelines for management of CMML based on a uniform prognostic scoring system is eagerly awaited.