Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology

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  • dc.contributor.author Garrote, Marta
  • dc.contributor.author López-Guerra, Mónica
  • dc.contributor.author García-Pagán, Joan Carles
  • dc.contributor.author Arellano-Rodrigo, Eduardo
  • dc.contributor.author Ferrer-Marín, Francisca
  • dc.contributor.author Hernández-Boluda, Juan Carlos
  • dc.contributor.author Bellosillo Paricio, Beatriz
  • dc.contributor.author Nomdedeu, Meritxell
  • dc.contributor.author Hernández-Gea, Virginia
  • dc.contributor.author Triguero, Ana
  • dc.contributor.author Guijarro, Francesca
  • dc.contributor.author Álamo, José
  • dc.contributor.author Baiges Aznar, Anna
  • dc.contributor.author Turon, Fanny
  • dc.contributor.author Colomer Pujol, Dolors
  • dc.contributor.author Cervantes, Francisco
  • dc.contributor.author Alvarez-Larrán, Alberto
  • dc.date.accessioned 2024-09-27T06:21:00Z
  • dc.date.available 2024-09-27T06:21:00Z
  • dc.date.issued 2024
  • dc.description.abstract To elucidate the role of splanchnic vein thrombosis (SVT) and genomic characteristics in prognosis and survival, we compared patients with polycythemia vera (PV) or essential thrombocythemia (ET) presenting SVT at diagnosis (n = 69, median age 43 years) or during follow-up (n = 21, median age 46 years) to a sex- and age-matched control group of PV/ET without SVT (n = 165, median age 48 years). The majority of patients presenting with SVT at diagnosis were classified as myeloproliferative neoplasm with heterozygous JAK2 mutation (87% of cases vs. 69% in PV/ET control group, p < 0.05), characterized by low JAK2 allele burden and no high-risk mutations. Despite this lower molecular complexity, patients presenting with SVT showed a higher risk of death (HR 3.0, 95% CI 1.5-6.0, p = 0.003) and lower event-free survival (HR 3.0, 95% CI 1.9-4.8, p < 0.001) than age- and sex-matched PV/ET controls. In patients presenting with SVT, molecular high-risk was associated with increased risk of venous re-thrombosis (HR 5.8, 95% CI 1.4-24.0, p = 0.01). Patients developing SVT during follow-up were more frequently allocated in molecular high-risk than those with SVT at diagnosis (52% versus 13%, p < 0.05). In the whole cohort of patients, molecular classification identified PV/ET patients at higher risk of disease progression whereas DNMT3A/TET2/ASXL1 mutations were associated with higher risk of arterial thrombosis. In conclusion, clinical and molecular characteristics are different in PV/ET patients with SVT, depending on whether it occurs at diagnosis or at follow-up. Molecular characterization by NGS is useful for assessing the risk of thrombosis and disease progression in young patients with PV/ET.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Garrote M, López-Guerra M, García-Pagán JC, Arellano-Rodrigo E, Ferrer-Marín F, Hernández-Boluda JC, et al. Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology. Ann Hematol. 2024 Mar;103(3):737-47. DOI: 10.1007/s00277-023-05610-x
  • dc.identifier.doi http://dx.doi.org/10.1007/s00277-023-05610-x
  • dc.identifier.issn 0939-5555
  • dc.identifier.uri http://hdl.handle.net/10230/61256
  • dc.language.iso eng
  • dc.publisher Springer
  • dc.relation.ispartof Ann Hematol. 2024 Mar;103(3):737-47
  • dc.rights © The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.other Trombosi
  • dc.subject.other Policitèmia
  • dc.title Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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