A comparison of qPCR and ddPCR used for quantification of the JAK2 V617F allele burden in Ph negative MPNs

Philadelphia-negative myeloproliferative neoplasms (MPNs) are a diverse group of diseases whose common feature is the presence of V617F mutation of the JAK2 gene. In the era of novel therapeutic strategies in MPNs, such as JAK-inhibitor therapy, there is a growing need for establishing high sensitiv...

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Bibliographic Details
Published in:Annals of hematology 2018-12, Vol.97 (12), p.2299-2308
Main Authors: Link-Lenczowska, Dorota, Pallisgaard, Niels, Cordua, Sabrina, Zawada, Magdalena, Czekalska, Sylwia, Krochmalczyk, Dorota, Kanduła, Zuzanna, Sacha, Tomasz
Format: Article
Language:English
Subjects:
Adult
Aged
Alleles
Amino Acid Substitution
Female
Hematologic Neoplasms - blood
Hematologic Neoplasms - drug therapy
Hematologic Neoplasms - genetics
Hematology
Humans
Janus Kinase 2 - blood
Janus Kinase 2 - genetics
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Mutation, Missense
Myeloproliferative Disorders - blood
Myeloproliferative Disorders - drug therapy
Myeloproliferative Disorders - genetics
Oncology
Original
Original Article
Philadelphia Chromosome
Real-Time Polymerase Chain Reaction - methods
Rituximab - administration & dosage
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Summary:Philadelphia-negative myeloproliferative neoplasms (MPNs) are a diverse group of diseases whose common feature is the presence of V617F mutation of the JAK2 gene. In the era of novel therapeutic strategies in MPNs, such as JAK-inhibitor therapy, there is a growing need for establishing high sensitive quantitative methods, which can be useful not only at diagnosis but also for monitoring therapeutic outcomes, such as minimal residual disease (MRD). In this study, we compared the qPCR and ddPCR methods and their clinical utility for diagnosis, prognostication, and treatment monitoring of MPNs with JAK2 V617F mutation in 63 MPN patients of which 6 were subjected to ruxolitinib treatment. We show a high conformance between the two methods (correlation coefficient r  = 0.998 ( p  
ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-018-3451-1