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rdf:type |
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lifeskim:mentions |
umls-concept:C0015295,
umls-concept:C0205314,
umls-concept:C0205419,
umls-concept:C0332466,
umls-concept:C0441587,
umls-concept:C0470187,
umls-concept:C0599161,
umls-concept:C0679622,
umls-concept:C0728938,
umls-concept:C1332671,
umls-concept:C1334538,
umls-concept:C1511790,
umls-concept:C1519595,
umls-concept:C1690540
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pubmed:issue |
2
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pubmed:dateCreated |
2009-2-13
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1873-4456
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pubmed:author |
pubmed-author:ChoSung RanSR,
pubmed-author:ChoiJong RakJR,
pubmed-author:HanJeong-HyunJH,
pubmed-author:KimJong-KeeJK,
pubmed-author:KimJuwonJ,
pubmed-author:LeeHyeon-JiHJ,
pubmed-author:LeeJong-HanJH,
pubmed-author:LeeKyung-AKA,
pubmed-author:LeeSeung TaeST,
pubmed-author:ParkTae SungTS,
pubmed-author:SongJaewooJ
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pubmed:issnType |
Electronic
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pubmed:volume |
189
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
87-92
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pubmed:meshHeading |
pubmed-meshheading:19215788-Base Sequence,
pubmed-meshheading:19215788-Core Binding Factor beta Subunit,
pubmed-meshheading:19215788-Cytogenetic Analysis,
pubmed-meshheading:19215788-DNA Mutational Analysis,
pubmed-meshheading:19215788-Exons,
pubmed-meshheading:19215788-Genes, Neoplasm,
pubmed-meshheading:19215788-Humans,
pubmed-meshheading:19215788-Leukemia, Myeloid, Acute,
pubmed-meshheading:19215788-Male,
pubmed-meshheading:19215788-Molecular Sequence Data,
pubmed-meshheading:19215788-Mutagenesis, Insertional,
pubmed-meshheading:19215788-Myosin Heavy Chains,
pubmed-meshheading:19215788-Reagent Kits, Diagnostic,
pubmed-meshheading:19215788-Recombinant Fusion Proteins,
pubmed-meshheading:19215788-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:19215788-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
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.
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pubmed:affiliation |
Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports,
Evaluation Studies
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