Superiority of Droplet Digital PCR Over Real-Time Quantitative PCR for Allele Mutational Burden Assessment in Myeloproliferative Neoplasms: A Retrospective Study.

mutational status is an essential diagnostic index in myeloproliferative neoplasms (MPNs). Although widely used for detection of mutation in peripheral blood (PB), sensitive real-time quantitative PCR (qPCR) presents some methodological limitations. Recently, emerging alternative technologies, like digital droplet PCR (ddPCR), have been reported to overcome some of qPCR's technical drawbacks. The purpose of this study was to compare the diagnostic utility of ddPCR to qPCR for detection and quantification in samples from MPNs patients. Sensitivity and specificity of qPCR and ddPCR in the detection of the mutation were assessed by using a calibrator panel of mutated DNA on 195 positive MPN samples. Based on our results, ddPCR proved to be a suitable, precise, and sensitive method for detection and quantification of the mutation.