TY - JOUR
T1 - Superiority of droplet digital PCR over real-time quantitative PCR for JAK2 V617F allele mutational burden assessment in myeloproliferative neoplasms
T2 - A retrospective study
AU - Rocca, Francesco La
AU - Grieco, Vitina
AU - Ruggieri, Vitalba
AU - Zifarone, Emanuela
AU - Villani, Oreste
AU - Zoppoli, Pietro
AU - Russi, Sabino
AU - Laurino, Simona
AU - Falco, Geppino
AU - Calice, Giovanni
AU - Marinaccio, Anna
AU - Natalicchio, Maria Iole
AU - Albano, Francesco
AU - Musto, Pellegrino
N1 - Funding Information:
Funding: This work was supported by current research funds, Italian Ministry of Health, to IRCCS-CROB, Rionero in Vulture, Potenza, Italy.
Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/2/1
Y1 - 2020/2/1
N2 - JAK2 V617F mutational status is an essential diagnostic index in myeloproliferative neoplasms (MPNs). Although widely used for detection of JAK2 V617F 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 JAK2 V617F 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 JAK2 positive MPN samples. Based on our results, ddPCR proved to be a suitable, precise, and sensitive method for detection and quantification of the JAK2 V617F mutation.
AB - JAK2 V617F mutational status is an essential diagnostic index in myeloproliferative neoplasms (MPNs). Although widely used for detection of JAK2 V617F 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 JAK2 V617F 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 JAK2 positive MPN samples. Based on our results, ddPCR proved to be a suitable, precise, and sensitive method for detection and quantification of the JAK2 V617F mutation.
KW - Droplet digital PCR
KW - JAK2
KW - Myeloproliferative neoplasms
KW - QPCR
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U2 - 10.3390/diagnostics10030143
DO - 10.3390/diagnostics10030143
M3 - Article
AN - SCOPUS:85081325424
VL - 10
JO - Diagnostics
JF - Diagnostics
SN - 2075-4418
IS - 3
M1 - 143
ER -