Detection of BCR-ABL in Hematological Malignancies by RT-PCR

The presence of a novel, minute chromosome m the cells of patients with chrome myeloid leukemia (CML) was first described m 1960 by Nowell and Hungerford (1). The Philadelphia (Ph) chromosome, as it became known, was shown subsequently by banding techniques to result from a recrprocal translocanon between the long arms of chromosomes 9 and 22 t(9;22) (q34;qll) (2). Molecular studies demonstrated that the translocatton disrupted the normal ABL and BCR genes on chromosomes 9 and 22, respectively, grvmg rise to a chimeric BCR-ABL gene encoding a fusion protein with transforming ability (3). The reciprocal ABL-BCR product is also transcriptionally active in the majority of cases (4, 5).