title: A novel BCR-ABL fusion gene (e2/1a) in a patient with Philadelphia-positive chronic myelogenous leukaemia and an aggressive clinical course.
abstract: A novel variant BCR-ABL mRNA transcript was detected by reverse transcription polymerase chain reaction (RT-PCR) in a patient with Philadelphia positive (Ph+ve) chronic myelogenous leukaemia (CML) who had an aggressive clinical course. Sequence analysis of the amplified cDNA fragment revealed an in-frame fusion with part of BCR exon e2 joined to part of ABL exon 1a. PCR of genomic DNA from this patient demonstrated that this unusual chimaeric mRNA resulted from breakpoints that fell within each of these exons. This is the first report of breakpoints occurring within both ABL and BCR exons and the first fusion to involve ABL exon 1a.
authors.affiliation: Department of Haematology, Nottingham City Hospital.
authors.forename: J L
authors.initials: JL
authors.lastname: Byrne
authors.forename: G I
authors.initials: GI
authors.lastname: Carter
authors.forename: J M
authors.initials: JM
authors.lastname: Davies
authors.forename: A P
authors.initials: AP
authors.lastname: Haynes
authors.forename: N H
authors.initials: NH
authors.lastname: Russell
authors.forename: N C
authors.initials: NC
authors.lastname: Cross
mesh_terms: D001483:Base Sequence; D016026:Bone Marrow Transplantation; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D016044:Fusion Proteins, bcr-abl