Analysis of Genetic Alterations In 843 Korean Acute Leukemia Patients by Multiplex RT-PCR Assay (HemaVision) and Karyotyping

Abstract Abstract 4845 Background: The importance of molecular tests has been increased for diagnosis, classification and MRD monitoring in acute leukemia. Recently, multiplex RT-PCR assays (HemaVision) for simultaneous detection of 28 leukemia-associated translocations was introduced and has been used for molecular screening of leukemic patients. We analyzed the results of multiplex RT-PCR assay (HemaVision) and karyotyping in Korean acute leukemia patients. Methods: From April 2007 to March 2010, multiplex RT-PCR assay (HemaVision, DNA Technology A/S, Denmark) was performed in 843 Korean acute leukemia cases (AML 566 vs. ALL 277 and adults 596 vs. pediatrics 237) for screening leukemia-associated translocations. All results were compared with chromosome analysis results by conventional karyotyping. Results: Three hundreds fifty-one cases (41.6%) were positive in multiplex RT-PCR. In AML cases, 221 cases (39.0%) revealed positive results and RUNX1-RUNX1T1 85 cases (38.5%), PML-RARA 74 cases (33.5%), CBFB-MYH11 25 cases (11.3%) and MLL-related 19 cases (8.6%) were frequently detected. In contrast, 130 cases (46.9%) revealed positive results in 277 ALL cases and BCR-ABL1 68 cases (52.3%), ETV6-RUNX1 28 cases (21.5%), TCF3-PBX1 15 cases (11.5%), MLL-related 10 cases (7.7%) were frequently detected. In comparison to karyotyping, 337 cases (96.0%) revealed abnormal karyotype and 14 cases (4.0%) revealed normal karyotype in 351 cases that revealed positive results by multiplex RT-PCR assay. In 492 cases that revealed negative results by multiplex RT-PCR assay, 278 cases (56.5%) revealed abnormal karyotype and 214 cases (43.5%) revealed normal karyotype. Overall 629 cases (74.6%) were detected genetic alterations by multiplex RT-PCR assay and/or karyotyping. Conclusion: Most acute leukemias may have a genetic alteration in their leukemogenesis. Both multiplex RT-PCR assay and karyotyping are essential for screening leukemia-associated genetic alterations. Disclosures: No relevant conflicts of interest to declare.