Multiplex PCR approach for detection of fusion genes in acute lymphoblastic and myeloid leukemia PCR multiplex pentru detectia genelor de fuziune in leucemia acuta mieloida si limfoblastica

Acute leukemias are a group of heterogeneous diseas es 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 a re continuing to be discovered in leukemia patients. Many of these fusion genes are believed to be pathognom onic to disease and can be used as prognostic factors for t he 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-RAR α, AML1-ETO, CBF β-MYH11, BCR-ABL, MLL-AF4, E2A-PBX1, SIL-TAL and TEL AML1.Results: Our multiplex PCR assay allowed multi plexing of primers for detection of 8 most common f usion genes in acute leukemia. This allowed risk stratifi cation for 36.5% of the patients. Furthermore ident ification of these fusion genes allowed MRD monitoring using nes ted PCR or real-time PCR for quantitative evaluatio n of MRD. Overall a very good performance was obtained w ith no non-specific amplifications and 100% correla tion with commercial HemaVision kits. In comparison with HemaVision kits this assay allows identification o f the most frequent 8 fusion genes at a considerably lowe r price per patient.