title: Philadelphia negative, BCR-ABL positive adult acute lymphoblastic leukemia (ALL) in 2 of 39 patients with combined cytogenetic and molecular analysis.
abstract: We performed cytogenetic and molecular analysis of the BCR-ABL rearrangement by polymerase chain reaction (PCR) in 39 consecutive cases of adult acute lymphoblastic leukemia (ALL). Eleven patients had a Philadelphia (Ph) chromosome. Thirteen patients had a BCR-ABL rearrangement, involving minor breakpoint cluster region (m-bcr, situated in intron 1 of the BCR gene) in 11 cases, and major breakpoint cluster region (M-bcr, 'specific' of chronic myeloid leukemia) in the remaining two cases. All of the 12 BCR-ABL cases studied immunologically were of early B, CALLA-positive immunophenotype. The 13 BCR-ABL positive cases included the 11 Ph-positive cases, and two patients with normal karyotype at diagnosis. In the two Ph-negative BCR-positive cases, seven (patient 1) and 18 (patient 2) mitoses had been examined at diagnosis. In patient 1, Ph negativity at diagnosis could certainly be explained by the small number of mitoses analyzed, as a Ph chromosome was found at relapse. This was less probable in patient 2, who raised the issue of whether authentic Ph-negative BCR-ABL-positive ALL exists (as in the chronic myeloid leukemia model) or not. Whatever the explanation, our results suggest that molecular detection of BCR-ABL should be more widely used in B-lineage ALL.
authors.affiliation: INSERM U124, Institut de Recherches sur le Cancer, Lille, France.
authors.forename: C
authors.initials: C
authors.lastname: Preudhomme
authors.forename: P
authors.initials: P
authors.lastname: Fenaux
authors.forename: J L
authors.initials: JL
authors.lastname: Lal
authors.forename: P
authors.initials: P
authors.lastname: Lepelley
authors.forename: C
authors.initials: C
authors.lastname: Sartiaux
authors.forename: M
authors.initials: M
authors.lastname: Collyn-d'Hooghe
authors.forename: M
authors.initials: M
authors.lastname: Zandecki
authors.forename: A
authors.initials: A
authors.lastname: Cosson
authors.forename: J P
authors.initials: JP
authors.lastname: Jouet
authors.forename: J P
authors.initials: JP
authors.lastname: Kerckaert
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D016313:Genes, abl; D006801:Humans; D007945:Leukemia, Lymphoid / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000737:chemistry; D010677:Philadelphia Chromosome; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D009838:Oligodeoxyribonucleotides; D016044:Fusion Proteins, bcr-abl