Diagnostic value of R-banding Technique, Dual-color Fluore- scence In Situ Hybridization and Quantitative Real-time PCR in Acute Promyelocytic Leukemia

Abstract

To explore the diagnostic value of R-banding technique (RT), dual-color fluorescence in situ hybridization (D-FISH) and quantitative real-time PCR (RT-PCR) for acute promyelocytic leukemia. The cytogenetic characteristics and PML/RARα fusion gene in 340 patients with suspectable APL were analyzed by using 3 detection methods. MICM (morphology, immunology, cytogenetic and molecular biology) was used as diagnostic standard of APL, and the diagnostic value of RT, D-FISH and RT-PCR was evaluated by comparing the detection results of RT, D-FISH and RT-PCR as well as their combination. For the diagnosis of APL, the sensitivity of RT, D-FISH and RT-PCR was 81.3% (78/96), 95.0% (91/96) and 96.9% (93/96) respectively. RT failed to detect 18 cases, the results of D-FISH showed 5 cases with false positive and 2 cases with false negative, the RT-PCR showed 4 cases with false positive, 3 cases with false negative. The sensitivity and specificity of combined detection of 3 methods were 99.97% and 100% respectively. The 3 detection methods alone all have certain defects for diagnosis of APL, but their combined detection is helpful to improve the definitive diagnostic rate and can decrease misdiagnosis rate and missed diagnostic rate.