A rapid FISH diagnosis of Ph (+) acute lymphoblastic leukemia on bone marrow and peripheral blood smears

A Gaworczyk MD, JR Kowalczyk Prof., D Winnicka, M Lejman, K Kaczanowska PhD, D Przadka MD, M. Babicz.

Department of Pediatric Hematology and Oncology, Cytogenetic Laboratory, Lublin, Poland

Among several different genetic abnormalities in acute lymphoblastic leukemia (ALL), the chromosomal translocation t(9;22), that results in creation of Philadelphia chromosome, is associated with poor outcome. In this group of patients the reported rates of event-free survival range from 15 to 30 percent while the overall probability of curing childhood ALL with current treatments reaches up to 80 percent. The Ph (+) patients are classified into the high risk group and should be candidates for the innovative and intensified treatment followed by allogeneic bone marrow transplantation (allo-BMT). Therefore the accurate identification of this group of patients is vital. AIM: For that purpose we have adopted a simple and fast FISH approach that detects the presence of BCR/ABL rearrangements directly on bone marrow and peripheral blood smears. METHOD: The bone marrow and/or peripheral blood smears of 55 pediatric patients with de novo recognized ALL, have been collected, fixed (in methanol/acetic acid), dried out and hybridized with a D-FISH BCR/ABL translocation probe (Qbiogene) . RESULTS: With this method (the success rate - 100 %) we have been able to reveal the presence of BCR/ABL rearrangement in one case (1/55).CONCLUSIONS: FISH carried out directly on bone marrow and peripheral blood smears proved to be fast and reliable method for diagnosing BCR/ABL rearrangements in ALL patients. This work was supported by Polish Committee of Scientific Research – grant Nr 4PO5 E 081 18

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Paper presented at the International Symposium on Predictive Oncology and Intervention Strategies; Paris, France; February 9 - 12, 2002; in the section on Diagnostic Markers.

This presentation received an honorable mention in our poster contest and was recognized with the Symposium Presidents' Award for Scientific Excellence.