title: Detection of BCR-ABL and E2A-PBX1 fusion genes by RT-PCR in acute lymphoblastic leukaemia with failed or normal cytogenetics.
abstract: 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 (> or = 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). Co-expression 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.
authors.affiliation: Department of Haematology, Royal Free Hospital and School of Medicine, London.
authors.forename: P E
authors.initials: PE
authors.lastname: Devaraj
authors.forename: L
authors.initials: L
authors.lastname: Foroni
authors.forename: V
authors.initials: V
authors.lastname: Kitra-Roussos
authors.forename: L M
authors.initials: LM
authors.lastname: Secker-Walker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D002888:Chromosomes, Human, Pair 19; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D018572:Disease-Free Survival; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000401:mortality; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; D016044:Fusion Proteins, bcr-abl