Rare CBFB-MYH11 cryptic rearrangement in acute myeloid leukemia with ins(16)(p13.1q22q22)

Abstract

Acute myeloid leukemia (AML) with CBFB-MYH11 fusion gene is almost always associated with either inv(16)(p13.1q22) or t(16;16)(p13.1;q22). Only a few variants leading to formation of this chimeric gene have been reported. In this report, we describe a novel type of CBFB-MYH11 fusion variant generated by an insertion of CBFB into the MYH11 gene, which is identifiable by fluorescence in situ hybridization (FISH).