Acute myeloid leukemia with cryptic CBFB-MYH11 type D.

ABSTRACT: 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 order to detect the cryptic inv(16) type D, both FISH and RT-PCR are required, and furthermore, the primers for the sequence analysis needs to be selected for the proper diagnosis.

SUBMITTER: Kobayashi T 

PROVIDER: S-EPMC3515980 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature