학술논문
Real-Time PCR and Droplet Digital PCR: two techniques for detection of the JAK2V617F mutation in Philadelphia-negative chronic myeloproliferative neoplasms.
Document Type
Article
Author
Source
Subject
*THROMBOCYTOSIS
*MYELOFIBROSIS
*CHRONIC myeloid leukemia
*POLYCYTHEMIA
*COMPARATIVE studies
*GENETIC mutation
*POLYMERASE chain reaction
*PROBABILITY theory
*STATISTICS
*DATA analysis
*RETROSPECTIVE studies
*DATA analysis software
*MANN Whitney U Test
*KRUSKAL-Wallis Test
*DIAGNOSIS
*GENETICS
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Language
ISSN
1751-5521
Abstract
Introduction: Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) are clonal disorders that present JAK2V617F mutation in 50-95% of cases. The main objective of this study was the comparison of two PCR methods, real-time (qPCR) and droplet digital PCR (DD-PCR) for detection of the JAK2V617F mutation, to assess analytic sensitivity, specificity, and feasibility of the two methods. Methods: Ninety-nine patients with MPN of 225 presenting the JAK2V617F mutation by qPCR have been evaluated by DD-PCR also. Results: We demonstrated an absolute concordance in terms of specificity between the two methods, DD-PCR showing a higher sensitivity (half a log higher than qPCR). As expected, a progressive increase of mutant allele burden was observed from essential thrombocythemia (ET) to polycythemia vera (PV) and primary myelofibrosis (PMF) to secondary myelofibrosis (SMF). Conclusion: In conclusion, our study showed that DD-PCR could represent a new and promising technological evolution for detection of JAK2 mutation in MPNs. [ABSTRACT FROM AUTHOR]