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Detection of BCR‐ABL and E2A‐PBX1 fusion genes by RT‐PCR in acute lymphoblastic leukaemia with failed or normal cytogenetics
Author(s) -
Devaraj Prema E.,
Foroni Letizia,
KitraRoussos Vasiliki,
SeckerWalker Lorna M.
Publication year - 1995
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 - 10.1111/j.1365-2141.1995.tb03311.x
Subject(s) - fusion gene , breakpoint cluster region , cytogenetics , biology , abl , karyotype , fusion transcript , chromosomal translocation , philadelphia chromosome , microbiology and biotechnology , cancer research , gene , genetics , chromosome , tyrosine kinase , receptor
Summary. To evaluate the use of molecular analysis as a complement to karyotypic analysis in the detection of specific chromosomal abnormalities, the occurrence of t(1;19)(q23;p13) and t(9;22)(q34;q11) was investigated by RT‐PCR in 43 diagnostic acute lymphoblastic leukaemia cases in whom cytogenetic investigations had failed (32 cases) or showed only a normal karyotype (20 normal metaphases, 11 cases). One child (aged 14 years) and five adults (aged 18–60 years) were BCR‐ABL positive on first round for M‐ BCR‐ABL (one case) or m‐ BCR‐ABL (one case), or on nested PCR for m‐ BCR‐ABL (three cases). Coexpression of M‐ BCR‐ABL (first‐round PCR) and m‐ BCR‐ABL (nested PCR was seen in one case. One m‐ BCR‐ABL ‐positive case also expressed the E2A‐PBX1 fusion transcript. Patients positive for the transcript(s) were older, had higher white blood cell counts and a significantly poorer event‐free survival ( P <0.001) than those negative for the transcript.