Real-Time PCR and Droplet Digital PCR: two techniques for detection of theJAK2V617Fmutation in Philadelphia-negative chronic myeloproliferative neoplasms

    loading  Checking for direct PDF access through Ovid

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.

Related Topics

    loading  Loading Related Articles