The added values of multiplex reverse transcriptase‐PCR followed by mutation screening in the initial evaluation of acute leukemia

• DOI: 10.1111/ijlh.12521
• Publication Date: 2016-06-20T05:47:14Z
• Authors: B. Kim; Y.‐U. Cho; M.‐H. Bae; S. Jang; E.‐J. Seo; H.‐S. Chi; C.‐J. Park
• Keywords: Multiplex

Summary Introduction This study investigates the benefits of using multiplex reverse transcriptase‐ PCR ( RT ‐ ) in addition to standard karyotyping during initial evaluation acute leukemia. Methods A total 1114 consecutive specimens from patients with leukemia were tested a commercial kit (HemaVision, DNA Diagnostic). NPM 1 and CEBPA mutations selectively myeloid AML negativity. Results In optimal cytogenetics, frequency recurrent translocations was 31.3%, cryptic detected 2.1% samples. The concordance rate between 97.5%. established functions, we demonstrated additional , including successful molecular characterization, even cytogenetically suboptimal (5.7%); detection submicroscopic aberrations (1.0%); rare but potentially significant or variants (2.5%); selection candidates for mutation analysis (68.3%); finally exclusion lymphoblastic mixed phenotype (22.5%). Conclusion We reconfirmed accuracy reliability diagnosing advantages this system Thus, is worth considering diagnostic testing leukemias.