A novel mutation of SETBP 1 in atypical chronic myeloid leukemia transformed from acute myelomonocytic leukemia

Abstract

To investigate an oncogenic mutation of SETBP 1 in the evolution from acute myelomonocytic leukemia (M4) to secondary aCML . Clinical data and molecular studies were analyzed of paired aCML and 'normal' DNA from a case with M4. We identified a mutation in SETBP 1 (encoding a p.Asp868Ala alteration). The analysis of paired sample indicated that SETBP 1 mutation was acquired during leukemic evolution.