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Multiplex PCR approach for detection of fusion genes in acute lymphoblastic and myeloid leukemia
Dumitru Jardan, Rodica Talmaci, Cerasela Jardan, Daniel Coriu, Anca Colita, Andrei Colita, Constantin Arion
Abstract: Acute leukemias are a group of heterogeneous diseases with respect to clinical features and acquired genetic aberrations. Since the discovery of BCR-ABL fusion gene a lot of other fusion genes were and are continuing to be discovered in leukemia patients. Many of these fusion genes are believed to be pathognomonic to disease and can be used as prognostic factors for the evolution of disease. In this study we performed development and optimization of a multiplex PCR assay for detection of 8 most common fusion genes in AML and ALL, namely: PML-RARα, AML1-ETO, CBFβ-MYH11, BCR-ABL, MLL-AF4, E2A-PBX1, SIL-TAL and TEL-AML1.Results: Our multiplex PCR assay allowed multiplexing of primers for detection of 8 most common fusion genes in acute leukemia. This allowed risk stratification for 36.5% of the patients. Furthermore identification of these fusion genes allowed MRD monitoring using nested PCR or real-time PCR for quantitative evaluation of MRD. Overall a very good performance was obtained with no non-specific amplifications and 100% correlation with commercial HemaVision kits. In comparison with HemaVision kits this assay allows identification of the most frequent 8 fusion genes at a considerably lower price per patient.
Keywords: Fusion genes,multiplex RT-PCR,acute leukemia
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Jardan D, Talmaci R, Jardan C, Coriu D, Colita A, Colita A, et al. Multiplex PCR approach for detection of fusion genes in acute lymphoblastic and myeloid leukemia. Rev Romana Med Lab. 2012;20(1):15-20
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