title: [Establishment of a new method for screening of CBFB-MYH11 fusion gene in acute myeloid leukemia and its value in clinical use].
abstract: This study was purposed to establish new method for detecting CBFB-MYH11 fusion gene in acute myeloid leukemia (AML) and to evaluate its value in clinical use. All fusion types of reported CBFB-MYH11 fusion gene were defined by search of references and databank, then the primers and probes were designed on this basis, and 3 positive plasmids and negative cell line as control were established. GUSB gene was also amplified as an internal reference. The primer/probe sets were tested with 3 positive plasmids and HL-60 cDNA using quantitative real-time PCR (qPCR) assays, which were then combined as a multiplex qPCR for simultaneous detection of CBFB-MYH11 and GUSB. After optimization, the multiplex qPCR assay demonstrated both high sensitivity (10 copies for all the 3 plasmids) and high specificity. Finally, the multiplex qPCR assay was clinically evaluated with 58 AML patients, and 4 CBFB-MYH11-positive cases (6.9%) were detected, involving A type (3 cases) and J type (1 case). By comparison, the multiplex qPCR assay showed results concordant with sequencing results, and detected one case that was missed by cytogenetic analysis. It is concluded that a novel qPCR method for screening of CBFB-MYH11 fusion gene in AML is established. This method is fast, comprehensive, sensitive, specific, reliable, and should consider to be a robust tool for identification and management of AML patients with CBFB-MYH11 fusion gene.
authors.affiliation: Beijing Normal University, Guangdong Province, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Chen
authors.forename: Zhi-Peng
authors.initials: ZP
authors.lastname: Li
authors.forename: Quan-Yi
authors.initials: QY
authors.lastname: Lu
authors.forename: Zhi-Ming
authors.initials: ZM
authors.lastname: Liu
mesh_terms: D016022:Case-Control Studies; D050658:Core Binding Factor beta Subunit / Q000032:analysis* / Q000235:genetics; D018922:HL-60 Cells; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics; D018995:Myosin Heavy Chains / Q000032:analysis* / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000032:analysis* / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction
chemical_list: C493692:CBFB protein, human; D050658:Core Binding Factor beta Subunit; C509903:MYH11 protein, human; D015514:Oncogene Proteins, Fusion; D018995:Myosin Heavy Chains