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A novel BCR‐ABL fusion gene (e2/1a) in a patient with Philadelphia‐positive chronic myelogenous leukaemia and an aggressive clinical course
Author(s) -
Byrne J. L.,
Carter G. I.,
Davies J. M.,
Haynes A. P.,
Russell N. H.,
Cross N. C. P.
Publication year - 1998
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.1365-2141.1998.01043.x
Subject(s) - exon , breakpoint cluster region , abl , chronic myelogenous leukemia , fusion gene , microbiology and biotechnology , complementary dna , biology , fusion protein , polymerase chain reaction , fusion transcript , reverse transcription polymerase chain reaction , philadelphia chromosome , gene , cancer research , messenger rna , genetics , leukemia , chromosomal translocation , recombinant dna , tyrosine kinase , receptor
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.