INTRODUCTIONMyeloproliferative neoplasms (MPN) are stem cell‐derived clonal disorders that include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). Nearly all patients with PV and about 50%‐60% with ET and PMF present with the somatic mutation V617F in the JAK2 protein, affecting proliferation of haematopoietic cells. Detection of JAK2 V617F in DNA extracted from peripheral blood (PB) is hence included as part of the diagnostics workup of MPNs.Droplet digital PCR (ddPCR) is an end‐point measurement using limiting dilution from partition of target DNA into droplets and Poisson statistics, allowing detection and quantification of the mutated allele burden in 1 run, without the need of a standard curve or a reference gene. Several studies have demonstrated the concordance between real‐time quantitative PCR (qPCR) and ddPCR in identifying JAK2 mutations in patients with MPN using DNA extracted from PB.Liquid biopsies, also called cell‐free DNA (cfDNA), are now widely used for identification of many physiological and pathological conditions. cfDNA comprises fragments of DNA released from cells and is present in concentrations as low as 1.8‐4.4 ng/mL in plasma from healthy individuals. Elevated concentrations are detected in patients with various malignancies due to additional circulating tumour DNA (ctDNA). ctDNA can be distinguished from
International Journal of Laboratory Hematology – Wiley
Published: Jan 1, 2018
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