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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

 Tae Sung Park  ;  Seung Tae Lee  ;  Jaewoo Song  ;  Kyung-A Lee  ;  Jong-Han Lee  ;  Juwon Kim  ;  Hyeon-Ji Lee  ;  Jeong-Hyun Han  ;  Jong-Kee Kim  ;  Sung Ran Cho  ;  Jong Rak Choi 
 CANCER GENETICS AND CYTOGENETICS , Vol.189(2) : 87-92, 2009 
Journal Title
Issue Date
Base Sequence ; Core Binding Factor beta Subunit/genetics* ; Cytogenetic Analysis ; DNA Mutational Analysis/instrumentation ; DNA Mutational Analysis/methods ; Exons ; Genes, Neoplasm ; Humans ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics* ; Male ; Molecular Sequence Data ; Mutagenesis, Insertional* ; Myosin Heavy Chains/genetics* ; Reagent Kits, Diagnostic* ; Recombinant Fusion Proteins/genetics ; Reverse Transcriptase Polymerase Chain Reaction/methods* ; Young Adult
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
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Park, Tae Sung(박태성)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Seung Tae(이승태)
Lee, Jong Han(이종한)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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