P185(BCR-ABL) in two patients with late appearing Philadelphia chromosome-positive acute nonlymphocytic leukemia

Two patients with acute nonlymphocytic leukemia (ANLL) who had normal karyotypes at diagnosis and developed the Philadelphia (Ph) translocation during leukemia relapse are described in this report. Patient 1 relapsed with Ph-positive acute leukemia, FAB classification M1. The Ig heavy chain locus and T cell receptor gamma and beta genes of relapse cells from this patient were all found to be in germline configuration confirming the diagnosis of M1 acute leukemia. Patient 2 displayed a complex karyotypic evolution leading to Ph-positive M4 relapse. Ph-positive relapse specimens from both patients expressed P185(BCR-ABL) protein and RNA gene products that were identified serologically and by polymerase chain amplification of the BCR-ABL RNA junction. In vitro derived myeloid cell lines from relapse M1 leukemia cells of patient 1 also expressed the P185(BCR-ABL) protein. In two described patients, late appearance of the Ph translocation that encodes P185(BCR-ABL) coincided with relapse of acute leukemia. We conclude that P185(BCR-ABL) may be a strong indicator of Ph-positive acute leukemias.