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

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

Acute myeloid leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) is defined by the World Health Organization (WHO) classification as one of the acute myeloid leukemia with recurrent genetic abnormalities. AML with inv(16)/t(16;16) are associated with the FrenchAmerican-British (FAB) AML subtype M4eo, which characteristically has myelomonocytic differentiation and atypical eosinophils ...

Acute myeloid leukemia with cryptic CBFB-MYH11 type D.

A 77 year-old female was found with FAB M4Eo acute myeloid leukemia. Although CBFB-MYH11 mRNA was detected in RT-PCR, the conventional cytogenetic analysis failed to reveal inv(16). Fluorescence in situ hybridization (FISH) and the sequence analysis revealed a fusion between the exon 5 of CBFB and the exon 8 of MYH11, resulting in a minor variant fusion product previously reported as type D. In...

Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11.

Recurrent chromosomal rearrangements are associated with the development of acute myeloid leukemia (AML). The frequent inversion of chromosome 16 creates the CBFB-MYH11 fusion gene that encodes the fusion protein CBFbeta-SMMHC. This fusion protein inhibits the core-binding factor (CBF), resulting in a block of hematopoietic differentiation, and induces leukemia upon the acquisition of additiona...

Identification of genes that synergize with Cbfb-MYH11 in the pathogenesis of acute myeloid leukemia.

Acute myeloid leukemia subtype M4 with eosinophilia is associated with a chromosome 16 inversion that creates a fusion gene CBFB-MYH11. We have previously shown that CBFB-MYH11 is necessary but not sufficient for leukemogenesis. Here, we report the identification of genes that specifically cooperate with CBFB-MYH11 in leukemogenesis. Neonatal injection of Cbfb-MYH11 knock-in chimeric mice with ...

Rapid identification of CBFB-MYH11-positive acute myeloid leukemia (AML) cases by one single MYH11 real-time RT-PCR.