ArticleHaematologica2012
A novel, highly sensitive and rapid allele-specific loop-mediated amplification assay for the detection of the JAK2V617F mutation in chronic myeloproliferative neoplasms.
Article in Haematologica, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Advancements in somatic mutation detection through loop-mediated isothermal amplification (LAMP) in human tumors.Journal of applied genetics · 2026Review
- Comprehensive biomarker profiles in hematological malignancies: improving diagnosis, prognosis, and treatment.Biomarkers in medicine · 2025Review
- Versatility of reverse transcriptase loop-mediated isothermal amplification (RT-LAMP) from diagnosis of early pathological infection to mutation detection in organisms.Molecular biology reports · 2024Review
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- Marker-Assisted Selection for Pollen-Free Somatic Plants of Sugi (Japanese Cedar,Frontiers in plant science · 2021Article
- Superiority of Droplet Digital PCR Over Real-Time Quantitative PCR forDiagnostics (Basel, Switzerland) · 2020Article
- Detection of epidermal growth factor receptor T790M mutation by allele-specific loop mediated isothermal amplification.Journal of carcinogenesis · 2020Article
- The Q-LAMP Method Represents a Valid and Rapid Alternative for the Detection of theInternational journal of molecular sciences · 2019Article
- Loop Mediated Isothermal Amplification: A Promising Tool for Screening Genetic Mutations.Molecular diagnosis & therapy · 2019Review
- Novel Methodology for Rapid Detection of KRAS Mutation Using PNA-LNA Mediated Loop-Mediated Isothermal Amplification.PloS one · 2016Article
- Simple, rapid and accurate molecular diagnosis of acute promyelocytic leukemia by loop mediated amplification technology.Oncoscience · 2015Article
- JAK2V617F mRNA metabolism in myeloproliferative neoplasm cell lines.Blood cancer journal · 2014Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe identification of the JAK2V617F mutation is mandatory in the diagnostic work-up of Philadelphia chromosome-negative myeloproliferative neoplasms. Several molecular techniques to detect this mutation are currently available, but each of them has some limits. DESIGN AND
methodsWe set up a novel molecular method for the identification of the JAK2V617F mutation based on an allele-specific loop-mediated amplification, not polymerase chain reaction analysis. This innovative technique amplifies DNA targets under isothermal conditions with high specificity, efficiency and rapidity. The method does not require either a thermal cycler or gel separation and the DNA amplification reaction is visible to the naked eye and can be monitored by turbidimetry. This method was validated on DNA from cell lines as well as from patients with myeloproliferative neoplasms. The results were compared with those obtained by conventional polymerase chain reaction methods.
resultsThis assay detects, within 1 hour, the JAK2V617F mutation down to an allele burden of 0.1-0.01%. All samples positive by polymerase chain reaction (n=146) proved positive when tested by allele-specific loop-mediated amplification and none of the 80 negative controls gave false positive results. In addition, six patients with essential thrombocythemia previously diagnosed as being JAK2V617F negative by polymerase chain reaction analysis were found to be positive (at a low level) by allele-specific loop-mediated amplification. Furthermore, this assay discriminated the amount of JAK2V617F tumor allele within intervals of positivity, above 50%, between 50% and 10% and below 10%.
conclusionsAllele-specific loop-mediated amplification is a simple, robust and easily applicable method for the molecular diagnosis and monitoring of JAK2V617F mutation in patients with chronic myeloproliferative neoplasms.
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