Hybridization patterns of BCR / ABL1 gen in cuban patients with leukemia

[摘要] Introduction : Chronic myeloid leukemia (CML) is characterized by the t(9;22) translocation resulting in the formation of BCR/ABL1 fusion gen. Sometimes this genetic alteration can be associated to deletions in sequences of derivative chromosome 9 and other variants detected by fluorescence in situ hybridization (FISH) technique.Objective : To describe hybridization patterns in patients positive to t(9;22) after the introduction of FISH at the leukemia study in Cuba.Methods:  The bone marrow samples of 36 patients with diagnosis of CML and eight patients with acute lymphoblastic leukemia (ALL) were studied at the Cytogenetics Laboratory of the Institute of Hematology and Immunology. The BCR/ABL Dual Color Dual Fusion probe was used.Results : The sample of two CML patients were non-useful for diagnosis and 18 were t(9;22) positive, one with an atypical pattern of signals. All the ALL patients were negative. In one negative CML patient was observed a pattern of signals suggestive of trisomy 9.Conclusions:Incorporation of FISH for the BCR/ABL1 transcript study in CML and ALL patients allowed us to detect its presence and the existence of different patterns of signals which could be no detectable by conventional cytogenetic and could have prognostic significance.

[学科分类] 生理学与病理学

[关键词] BCR/ABL1 fusion gene;fluorescence in situ hybridization;hybridization signal patterns