title: 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.
authors.affiliation: Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kobayashi
authors.forename: Motoshi
authors.initials: M
authors.lastname: Ichikawa
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Kamikubo
authors.forename: Mineo
authors.initials: M
authors.lastname: Kurokawa
mesh_terms: D000368:Aged; D007446:Chromosome Inversion; D050658:Core Binding Factor beta Subunit / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000032:analysis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C493692:CBFB protein, human; D050658:Core Binding Factor beta Subunit; C509903:MYH11 protein, human; D015514:Oncogene Proteins, Fusion; D018995:Myosin Heavy Chains