KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosis.

ABSTRACT: KIT D816 mutations (KIT D816^mut) are strongly associated with systemic mastocytosis (SM) but are also detectable in acute myeloid leukemia (AML), where they represent an adverse prognostic factor in combination with core binding factor (CBF) fusion genes. Here, we evaluated the clinical and molecular features of KIT D816^mut/CBF-negative (CBF^neg) AML, a previously uncharacterized combination. All KIT D816^mut/CBF^neg cases (n = 40) had histologically proven SM with associated AML (SM-AML). Molecular analyses revealed at least one additional somatic mutation (median, n = 3) beside KIT D816 (e.g., SRSF2, 38%; ASXL1, 31%; RUNX1, 34%) in 32/32 (100%) patients. Secondary AML evolved in 29/40 (73%) patients from SM ± associated myeloid neoplasm

SUBMITTER: Jawhar M 

PROVIDER: S-EPMC6756067 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature