Chronic myelomonocytic leukemia: 2018 update on diagnosis, risk stratification and management.

ABSTRACT:

Disease overview

Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder with overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms, with an inherent risk for leukemic transformation (∼15%-20% over 3-5 years).

Diagnosis

Diagnosis is based on the presence of sustained (>3 months) peripheral blood monocytosis (≥1 × 10⁹ /L; monocytes ≥10%), along with bone marrow dysplasia. Clonal cytogenetic abnormalities occur in ∼ 30% of patients, while >90% have gene mutations. Mutations involving TET2 (∼60%), SRSF2 (∼50%), ASXL1 (∼40%) and the oncogenic RAS pathway (∼30%) are frequent; while the presence of ASXL1 and DNMT3A mutations and the absence of TET2 mutations negatively impact over-all survival.

Risk stratificat

SUBMITTER: Patnaik MM 

PROVIDER: S-EPMC5995129 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature