Real-Time PCR and Droplet Digital PCR: two techniques for detection of the JAK2V617F mutation in Philadelphia-negative chronic myeloproliferative neoplasms

Summary 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 t...

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Published in:International journal of laboratory hematology 2015-12, Vol.37 (6), p.766-773
Main Authors: Fontanelli, G., Baratè, C., Ciabatti, E., Guerrini, F., Grassi, S., Del Re, M., Morganti, R., Petrini, I., Arici, R., Barsotti, S., Metelli, M. R., Danesi, R., Galimberti, S.
Format: Article
Language:English
Subjects:
Droplet Digital PCR
Essential thrombocythemia
myelofibrosis
polycythemia vera
Real-Time PCR
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Summary:Summary 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.
ISSN:1751-5521
1751-553X
DOI:10.1111/ijlh.12404