ArticleAnnals of hematology2018
Non-driver mutations in patients with JAK2V617F-mutated polycythemia vera or essential thrombocythemia with long-term molecular follow-up.
Article in Annals of hematology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 45 citations in OpenAlex.
- Trial
- Molecular Abnormalities and Associated Clinical Features in Polycythemia Vera.Medical sciences (Basel, Switzerland) · 2026Review
- Impact ofTurkish journal of haematology : official journal of Turkish Society of Haematology · 2024Article
- Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.Cancers · 2024Review
- JAK2V617F variant allele frequency, non-driver mutations, single-nucleotide variants and polycythemia vera outcome.Journal of cancer research and clinical oncology · 2023Article
- Association of Myelofibrosis Phenotypes with Clinical Manifestations, Molecular Profiles, and Treatments.Cancers · 2023Review
- Review
- Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology.Diagnostics (Basel, Switzerland) · 2023Review
- Review
- Review
- Towards a Personalized Definition of Prognosis in Philadelphia-Negative Myeloproliferative Neoplasms.Current hematologic malignancy reports · 2022Review
- Article
- Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720-2A>G variant.Journal of clinical laboratory analysis · 2022Article
- Genetic Background of Polycythemia Vera.Genes · 2022Review
- Article
- Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.International journal of molecular sciences · 2021Review
- Recent advances in prognostication and treatment of polycythemia vera.Faculty reviews · 2021Review
- Polycythemia Vera (PV): Update on Emerging Treatment Options.Therapeutics and clinical risk management · 2021Review
- The 2020 revision of the guidelines for the management of myeloproliferative neoplasms.The Korean journal of internal medicine · 2021Review
- Leukemic evolution of polycythemia vera and essential thrombocythemia: genomic profiles predict time to transformation.Blood advances · 2020Article
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8 authors at 2 institutions in 1 country.
Funding
Abstract
JAK2V617F monitoring and NGS of non-driver genes was performed in 100 patients with polycythemia vera (PV) or essential thrombocythemia (ET) with long molecular follow-up. Patients who did not progress to myelofibrosis (MF) or acute myeloid leukemia (AML) after more than 10 years (n = 50) showed a low frequency of mutations at first sample (18%) and an incidence rate of 1.7 new mutations × 100 person-years. Mutations were detected at first sample in 83% of PV/ET patients who later progressed to AML (n = 12) with these patients having a rate of 25.6 mutations × 100 person-years. Presence of mutations at diagnosis was the unique risk factor for acquiring a new genetic event (HR 2.7, 95% CI 1.1-6.8, p = 0.03) after correction for age, PV diagnosis, and total duration of hydroxyurea (HU) exposure. Patients with additional mutation at first sample showed a higher probability of developing cytopenia under HU therapy and a higher risk of AML (HR 12.2, 95% CI 2.6-57.1, p = 0.001) with mutations in ASXL1 (p < 0.0001), TP53 (p = 0.01), SRSF2 (p < 0.0001), IDH1/2 (p < 0.0001), and RUNX1 (p < 0.0001) being associated with a higher probability of AML. Myelofibrotic transformation was more frequent in patients with additional mutations, especially in SF3B1 (p = 0.02) and IDH1/2 (p < 0.0001) although a persistently high or a progressive increase of the JAK2V617F allele burden while receiving cytoreduction was the strongest predictor of MF transformation (HR 10.8, 95% CI 2.4-49.1, p = 0.002). In conclusion, NGS may be useful to identify a minority of PV and ET patients with high genetic instability and increased risk of AML transformation.
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