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Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits.

Park, TS; Lee, ST; Song, J; Lee, KA; Lee, JH; Kim, J; Lee, HJ; Han, JH; Kim, JK; Cho, SR; Choi, JR
Cancer genetics and cytogenetics, 189(2):87-92, 2009
Journal Title
Cancer genetics and cytogenetics
We report on a 20-year-old man with acute myeloid leukemia (AML) showing a distinct novel CBFB/MYH11 variant fusion transcript. Initial results of bone marrow, chromosome, and flow cytometric analyses were not in accordance with the diagnosis of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) or AML with a CBFB/MYH11 rearrangement. However, results from 2 commercially available multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) tests repeatedly showed an unusual PCR product from his bone marrow specimen. Not only does this case show a partial insertion of exon 6 of the CBFB (ENSG00000067955) gene, but it also involves novel breakpoints within both exon 6 of the CBFB gene and exon 28 (previously exon 7) of the MYH11 (ENSG00000133392) gene, which is regarded as a previously non-reported, new type (K-type) of CBFB/MYH11 fusion transcript. In addition, our study result was in agreement with the recent report of Schnittger et al. that rare fusion transcripts of CBFB/MYH11 are correlated with an atypical cytomorphology and other aberrant characteristics. Therefore, multiplex RT-PCR and sequence analysis of these atypical products should be performed to diagnose atypical AML with CBFB/MYH11 rearrangement, to predict prognosis of these patients as well as to elucidate the molecular mechanism.
MeSH terms
Base SequenceCore Binding Factor beta Subunit/genetics*Cytogenetic AnalysisDNA Mutational Analysis/instrumentationDNA Mutational Analysis/methodsExonsGenes, NeoplasmHumansLeukemia, Myeloid, Acute/diagnosisLeukemia, Myeloid, Acute/genetics*MaleMolecular Sequence DataMutagenesis, Insertional*Myosin Heavy Chains/genetics*Reagent Kits, Diagnostic*Recombinant Fusion Proteins/geneticsReverse Transcriptase Polymerase Chain Reaction/methods*Young Adult
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