Novel BCR-ABL transcript containing an intronic sequence insert in a patient with Philadelphia-positive acute lymphoblastic leukaemia.
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.
Hirota
M
M
Central Clinical Laboratories, Shinshu University Hospital, Asahi, Matsumoto, Japan.
Hidaka
E
E
Ueno
I
I
Ishikawa
M
M
Asano
N
N
Yamauchi
K
K
Ishida
F
F
Tozuka
M
M
Katsuyama
T
T
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
D018388:Codon, Terminator; D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl