ArticleThe Journal of molecular diagnostics : JMD2011
Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of JAK2 exon 12 mutations--clinical relevance in the monitoring of polycythemia.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2Annals of hematology · 2025Article
- Genetic Background of Polycythemia Vera.Genes · 2022Review
- Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.Life (Basel, Switzerland) · 2021Review
- Diagnosis of exon 12-positive polycythemia vera rescued by NGS.Clinical case reports · 2020Article
- The Role of New Technologies in Myeloproliferative Neoplasms.Frontiers in oncology · 2019Review
- Analysis of the reannealing- instead of melting-curve in the detection of JAK2 V617F mutation by HRM method.Journal of blood medicine · 2019Article
- Summary and Review of the Abstracts on Philadelphia-Negative Myeloproliferative Neoplasms Presented at Haematocon 2017.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2018Article
- Validating the Sensitivity of High-Resolution Melting Analysis for JAK2 V617F Mutation in the Clinical Setting.Journal of clinical laboratory analysis · 2016Article
- Monitoring Minimal Residual Disease in the Myeloproliferative Neoplasms: Current Applications and Emerging Approaches.BioMed research international · 2016Review
- High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.Familial cancer · 2015Article
- Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods.PloS one · 2015Article
- Clinical and biological characterization of patients with low (0.1-2%) JAK2V617F allele burden at diagnosis.Haematologica · 2014Article
- Investigation of genetic disturbances in oxygen sensing and erythropoietin signaling pathways in cases of idiopathic erythrocytosis.Genetics research international · 2013Article
- A highly sensitive quantitative real-time PCR assay for determination of mutant JAK2 exon 12 allele burden.PloS one · 2012Article
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
JAK2 exon 12 mutations are found in myeloproliferative disorders characterized by erythrocytosis. Lying in a 33-bp region and conserving the open reading frame, they often present a low allelic burden (<10%), which excludes screening with techniques such as allele-specific PCR or different sequencing protocols. High-resolution melting (HRM), a fast in-tube method, seems the most accurate routine technique for that. We describe a reliable and powerful nested HRM technique, independent of DNA preparation and with technical sensitivity of 100% (95% CI, 93% to 100%) and specificity of 96.7% (95% CI, 89.7% to 96.7%). Screening a cohort of 10 idiopathic erythrocytosis, 28 polycythemia vera, and 7 secondary erythrocytosis cases allowed the detection of 15 mutants, including 9 different mutations, of which 3 were unreported, all in the polycythemia vera group, and presented a characteristic profile: pure erythrocytosis associated with low serum erythropoietin. Threshold detection level ranged from 1% to 3% allelic burden, depending on the mutation. All of the HRM positive signals were found mutated by sequencing. Six of them (40%), however, required cloning before sequencing, because of low allelic burden. Classic techniques such as genomic sequencing may therefore miss patients with mutations. Given its sensitivity, HRM (and nested HRM) can be used in routine diagnosis and seems to be the most efficient of current techniques for detection of JAK2 exon 12 mutations.
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