ArticleOncotarget2017
The relevance of a low JAK2V617F allele burden in clinical practice: a monocentric study.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Association of JAK2V617F allele burden and clinical correlates in polycythemia vera: a systematic review and meta-analysis.Annals of hematology · 2024Pooled it
- A comparison of qPCR and ddPCR used for quantification of the JAK2 V617F allele burden in Ph negative MPNs.Annals of hematology · 2018Trial
- Mathematical modeling ofProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2Annals of hematology · 2025Article
- Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2Global medical genetics · 2024Article
- Engineering a humanized animal model of polycythemia vera with minimalHaematologica · 2024Article
- Inflammation as a driver of hematological malignancies.Frontiers in oncology · 2024Review
- Molecular Studies for the Early Detection of Philadelphia-Negative Myeloproliferative Neoplasms.International journal of molecular sciences · 2023Review
- A Comparison of Bone Marrow Morphology and Peripheral Blood Findings in Low and High LevelDiagnostics (Basel, Switzerland) · 2023Article
- Targeted sequencing of candidate gene regions for myelofibrosis in dogs.Journal of veterinary internal medicine · 2022Article
- Review
- Clonal hematopoiesis with JAK2V617F promotes pulmonary hypertension with ALK1 upregulation in lung neutrophils.Nature communications · 2021Article
- Sex-Related Differences in Chronic Myeloid Neoplasms: From the Clinical Observation to the Underlying Biology.International journal of molecular sciences · 2021Review
- Frequency of Zygosity in Jak-2 Positive Patients with Polycythemia Vera-Pakistan's Perspective.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Evaluation of the JAK2V617F Mutational Burden in Patients with Philadelphia Chromosome Negative Myeloproliferative Neoplasms: A Single-center Experience.Balkan journal of medical genetics : BJMG · 2019Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since low JAK2V617F allele burden (AB) has been detected also in healthy subjects, its clinical interpretation may be challenging in patients with chronic myeloproliferative neoplasms (MPNs). We tested 1087 subjects for JAK2V617F mutation on suspicion of hematological malignancy. Only 497 (45.7%) patients were positive. Here we present clinical and laboratory parameters of a cohort of 35/497 patients with an AB ≤ 3%.Overall, 22/35 (62.9%) received a WHO-defined diagnosis of MPN and in 14/35 cases (40%) diagnosis was supported by bone marrow (BM) histology (''Histology-based'' diagnosis). In patients that were unable or refused to perform BM evaluation, diagnosis relied on prospective clinical observation (12 cases, 34.3%) and molecular monitoring (6 cases, 17.1%) (''Clinical-based'' or ''Molecular-based'' diagnosis, respectively). In 11/35 (31.4%) patients, a low JAK2V617F AB was not conclusive of MPN. The probability to have a final hematological diagnosis (ET/PV/MF) was higher in patients with thrombocytosis than in patients with polyglobulia (73.7% vs 57.1%, respectively). The detection of AB ≥ 0.8% always corresponded to an overt MPN phenotype. The repetition of JAK2V617F evaluation over time timely detected the spontaneous expansion (11 cases) or reduction (4 cases) of JAK2V617F-positive clones and significantly oriented the diagnostic process.Our study confirms that histology is relevant to discriminate small foci of clonal hematopoiesis with uncertain clinical significance from a full blown disease. Remarkably, our data suggest that a cut-off of AB ≥ 0.8% is very indicative for the presence of a MPN. Monitoring of the AB over time emerged as a convenient and non-invasive method to assess clonal hematopoiesis expansion.
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