ArticleAnnals of laboratory medicine2018
Clinical Implications of Quantitative JAK2 V617F Analysis using Droplet Digital PCR in Myeloproliferative Neoplasms.
Article in Annals of laboratory medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 7 citations in OpenAlex.
- Comparative Evaluation of Quantitative Real-Time PCR and a Laboratory-Developed Chip-Based Real-Time Digital PCR forDiagnostics (Basel, Switzerland) · 2026Article
- [Guideline development for MRD diagnostics in AML as a blueprint for solid tumors].Pathologie (Heidelberg, Germany) · 2026Review
- Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2Global medical genetics · 2024Article
- Digital PCR: A Reliable Tool for Analyzing and Monitoring Hematologic Malignancies.International journal of molecular sciences · 2020Review
- Superiority of Droplet Digital PCR Over Real-Time Quantitative PCR forDiagnostics (Basel, Switzerland) · 2020Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundJAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. Mutation quantification is useful for classifying patients with MPN into subgroups and for prognostic prediction. Droplet digital PCR (ddPCR) can provide accurate and reproducible quantitative analysis of DNA. This study was designed to verify the correlation of ddPCR with pyrosequencing results in the diagnosis of MPN and to investigate clinical implications of the mutational burden.
methodsPeripheral blood or bone marrow samples were obtained from 56 patients newly diagnosed with MPN or previously diagnosed with MPN but not yet indicated for JAK2 inhibitor treatment between 2012 and 2016. The JAK2 V617F mutation was detected by pyrosequencing as a diagnostic work-up. The same samples were used for ddPCR to determine the correlation between assays and establish a detection sensitivity cut-off. Clinical and hematologic aspects were reviewed.
resultsForty-two (75%) and 46 (82.1%) patients were positive for JAK2 V617F by pyrosequencing and ddPCR, respectively. The mean mutated allele frequency at diagnosis was 37.5±30.1% and was 40.7±31.2% with ddPCR, representing a strong correlation (r=0.9712, P<0.001). Follow-up samples were available for 12 patients, including eight that were JAK2 V617F-positive. Of these, mutational burden reduction after treatment was observed in six patients (75%), consistent with trends of hematologic improvement.
conclusionsQuantitative analysis of the JAK2 V617F mutation using ddPCR was highly correlated with pyrosequencing data and may reflect the clinical response to treatment.
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