title: 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.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea.
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Seung Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Jong-Han
authors.initials: JH
authors.lastname: Lee
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.forename: Hyeon-Ji
authors.initials: HJ
authors.lastname: Lee
authors.forename: Jeong-Hyun
authors.initials: JH
authors.lastname: Han
authors.forename: Jong-Kee
authors.initials: JK
authors.lastname: Kim
authors.forename: Sung Ran
authors.initials: SR
authors.lastname: Cho
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
mesh_terms: D001483:Base Sequence; D050658:Core Binding Factor beta Subunit / Q000235:genetics*; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis / Q000295:instrumentation / Q000379:methods; D005091:Exons; D052138:Genes, Neoplasm; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D018995:Myosin Heavy Chains / Q000235:genetics*; D011933:Reagent Kits, Diagnostic; D011993:Recombinant Fusion Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D055815:Young Adult
chemical_list: C493692:CBFB protein, human; D050658:Core Binding Factor beta Subunit; C509903:MYH11 protein, human; D011933:Reagent Kits, Diagnostic; D011993:Recombinant Fusion Proteins; D018995:Myosin Heavy Chains