title: Novel BCR-ABL transcript containing an intronic sequence insert in a patient with Philadelphia-positive acute lymphoblastic leukaemia.
abstract: In a patient with Philadelphia chromosome-positive acute lymphoblastic leukaemia (ALL), a novel variant of the chimaeric BCR-ABL mRNA transcript was detected by reverse transcription polymerase chain reaction (RT-PCR). Sequencing revealed the novel transcript to be a chimaeric mRNA produced by fusion of the BCR exon 14 (b3) to the ABL exon a2 with a 49-base pair (bp) insertion of an ABL intron 1b sequence between them. The insertion of the 49 bp introduced a stop codon. These data show that this variant of the chimaeric mRNA would not be translated into the p210 BCR-ABL protein. This could be one of the explanations as to why clinically the patient has responded well to therapy and continues to follow a mild clinical course.
authors.affiliation: Central Clinical Laboratories, Shinshu University Hospital, Asahi, Matsumoto, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Hirota
authors.forename: E
authors.initials: E
authors.lastname: Hidaka
authors.forename: I
authors.initials: I
authors.lastname: Ueno
authors.forename: M
authors.initials: M
authors.lastname: Ishikawa
authors.forename: N
authors.initials: N
authors.lastname: Asano
authors.forename: K
authors.initials: K
authors.lastname: Yamauchi
authors.forename: F
authors.initials: F
authors.lastname: Ishida
authors.forename: M
authors.initials: M
authors.lastname: Tozuka
authors.forename: T
authors.initials: T
authors.lastname: Katsuyama
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D018388:Codon, Terminator; D005260:Female; D016044:Fusion Proteins, bcr-abl; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D018388:Codon, Terminator; D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl