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Novel BCR–ABL transcript containing an intronic sequence insert in a patient with Philadelphia‐positive acute lymphoblastic leukaemia
Author(s) -
Hirota Masako,
Hidaka Eiko,
Ueno Ichiro,
Ishikawa Masayo,
Asano Naoko,
Yamauchi Kazuyoshi,
Ishida Fumihiro,
Tozuka Minoru,
Katsuyama Tsutomu
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2000.02205.x
Subject(s) - fusion transcript , exon , biology , breakpoint cluster region , intron , philadelphia chromosome , microbiology and biotechnology , messenger rna , abl , stop codon , genetics , start codon , fusion gene , cancer research , chromosomal translocation , gene , receptor , tyrosine kinase
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.