title: Second case of CML with aberrant BCR-ABL fusion transcript (e8/a2) with insertion of an inverted ABL intron 1b sequence.
abstract: We found a case of Ph-positive chronic myelogenous leukemia (CML) patient with an atypical BCR-ABL transcript that was undetectable by a routine reverse transcription polymerase chain reaction (RT-PCR) for major BCR-ABL. Additional RT-PCR and sequence analyses have demonstrated that the aberrant transcript consists of a fusion of BCR exon 8 (e8) and ABL exon 2 (a2) with an insertion of a 55-bp inverted sequence of intron 1b between them. The nucleotide sequences of the aberrant transcript were identical to those of a previously reported CML patient. These are the only two CML cases in the literature with identical aberrant BCR-ABL transcripts.
authors.affiliation: Clinical Research Division, Hyogo Medical Center for Adults, Akashi, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Kentaro
authors.initials: K
authors.lastname: Ijima
authors.forename: Hisashi
authors.initials: H
authors.lastname: Hisatomi
authors.forename: Tohru
authors.initials: T
authors.lastname: Murayama
authors.forename: Ishikazu
authors.initials: I
authors.lastname: Mizuno
authors.forename: Akio
authors.initials: A
authors.lastname: Hato
authors.forename: Shion
authors.initials: S
authors.lastname: Imoto
authors.forename: Ryuichiro
authors.initials: R
authors.lastname: Nishimura
authors.forename: Tamio
authors.initials: T
authors.lastname: Koizumi
mesh_terms: D000368:Aged; D007446:Chromosome Inversion; D005091:Exons; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D007438:Introns; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008969:Molecular Sequence Data; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic
chemical_list: D016044:Fusion Proteins, bcr-abl