Cited 14 times in
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
DC Field | Value | Language |
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dc.contributor.author | 박태성 | - |
dc.contributor.author | 송재우 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 이종한 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2015-04-24T16:39:28Z | - |
dc.date.available | 2015-04-24T16:39:28Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 0165-4608 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/103926 | - |
dc.description.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 | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 87~92 | - |
dc.relation.isPartOf | CANCER GENETICS AND CYTOGENETICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Core Binding Factor beta Subunit/genetics* | - |
dc.subject.MESH | Cytogenetic Analysis | - |
dc.subject.MESH | DNA Mutational Analysis/instrumentation | - |
dc.subject.MESH | DNA Mutational Analysis/methods | - |
dc.subject.MESH | Exons | - |
dc.subject.MESH | Genes, Neoplasm | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Leukemia, Myeloid, Acute/diagnosis | - |
dc.subject.MESH | Leukemia, Myeloid, Acute/genetics* | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutagenesis, Insertional* | - |
dc.subject.MESH | Myosin Heavy Chains/genetics* | - |
dc.subject.MESH | Reagent Kits, Diagnostic* | - |
dc.subject.MESH | Recombinant Fusion Proteins/genetics | - |
dc.subject.MESH | Reverse Transcriptase Polymerase Chain Reaction/methods* | - |
dc.subject.MESH | Young Adult | - |
dc.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 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Tae Sung Park | - |
dc.contributor.googleauthor | Seung Tae Lee | - |
dc.contributor.googleauthor | Jaewoo Song | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Jong-Han Lee | - |
dc.contributor.googleauthor | Juwon Kim | - |
dc.contributor.googleauthor | Hyeon-Ji Lee | - |
dc.contributor.googleauthor | Jeong-Hyun Han | - |
dc.contributor.googleauthor | Jong-Kee Kim | - |
dc.contributor.googleauthor | Sung Ran Cho | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.identifier.doi | 10.1016/j.cancergencyto.2008.10.012 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01725 | - |
dc.contributor.localId | A02054 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A02930 | - |
dc.contributor.localId | A03151 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00443 | - |
dc.identifier.eissn | 1873-4456 | - |
dc.identifier.pmid | 19215788 | - |
dc.identifier.url | http://www.sciencedirect.com/science/article/pii/S0165460808006249 | - |
dc.contributor.alternativeName | Park, Tae Sung | - |
dc.contributor.alternativeName | Song, Jae Woo | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Seung Tae | - |
dc.contributor.alternativeName | Lee, Jong Han | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Park, Tae Sung | - |
dc.contributor.affiliatedAuthor | Song, Jae Woo | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Seung Tae | - |
dc.contributor.affiliatedAuthor | Lee, Jong Han | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.citation.volume | 189 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 87 | - |
dc.citation.endPage | 92 | - |
dc.identifier.bibliographicCitation | CANCER GENETICS AND CYTOGENETICS , Vol.189(2) : 87-92, 2009 | - |
dc.identifier.rimsid | 37890 | - |
dc.type.rims | ART | - |
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