ArticleBlood advances2020
Leukemic evolution of polycythemia vera and essential thrombocythemia: genomic profiles predict time to transformation.
Article in Blood advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 70 citations in OpenAlex.
- Molecular Abnormalities and Associated Clinical Features in Polycythemia Vera.Medical sciences (Basel, Switzerland) · 2026Review
- Review
- Comprehensive High-Sensitivity Mutation Profiling in MPNs: Diagnostic and Prognostic Implications.Cancers · 2026Article
- NGS and emerging molecular scenarios in chronic myeloproliferative neoplasms: a case of double mutated polycythemia vera.Annals of hematology · 2026Article
- Risk of Transformation to Acute Myeloid Leukaemia and Myelodysplastic Syndromes in Patients With Myeloproliferative Neoplasms Over Attained Age and Time Since Diagnosis: A Nationwide Cohort Study.European journal of haematology · 2026Article
- Article
- Unraveling the role ofHemaSphere · 2026Review
- Myeloid sarcoma transformed from myeloproliferative neoplasm: A case report and review of literature.World journal of clinical oncology · 2026Article
- Polycythemia Vera Transforming to Pure Erythroid Leukemia: A Diagnostic Mimic of Thrombotic Microangiopathy With High-Risk TP53 Biology.Case reports in hematology · 2026Article
- Article
- Article
- Article
- Article
- Polycythaemia vera.Nature reviews. Disease primers · 2025Review
- Pathogenesis and management of high molecular risk myeloproliferative neoplasms.Haematologica · 2025Review
- Prevention and treatment of transformation of myeloproliferative neoplasms to acute myeloid leukemia.Haematologica · 2025Review
- Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2Annals of hematology · 2025Article
- Polycythemia vera and essential thrombocythemia in children, still a challenge for pediatricians.European journal of pediatrics · 2025Article
- Review
- Acute Myeloid Leukemia in Older Patients: From New Biological Insights to Targeted Therapies.Current oncology (Toronto, Ont.) · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
25 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Among myeloproliferative neoplasms, polycythemia vera (PV) and essential thrombocythemia (ET) are the 2 entities associated with the most chronic disease course. Leukemic evolution occurs rarely but has a grim prognosis. The interval between diagnosis and leukemic evolution is highly variable, from a few years to >20 years. We performed a molecular evaluation of 49 leukemic transformations of PV and ET by targeted next-generation sequencing. Using a hierarchical classification, we identified 3 molecular groups associated with a distinct time to leukemic transformation. Short-term transformations were mostly characterized by a complex molecular landscape and mutations in IDH1/2, RUNX1, and U2AF1 genes, whereas long-term transformations were associated with mutations in TP53, NRAS, and BCORL1 genes. Studying paired samples from chronic phase and transformation, we detected some mutations already present during the chronic phase, either with a significant allele burden (short-term transformation) or with a very low allele burden (especially TP53 mutations). However, other mutations were not detected even 1 year before leukemic transformation. Our results suggest that the leukemic transformation of PV and ET may be driven by distinct time-dependent molecular mechanisms.
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