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

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 yea...

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Autores: Garrote, Marta, López-Guerra, Mónica, García Pagán, Juan Carlos, Arellano-Rodrigo, Eduardo, Ferrer-Marín, Francisca, Hernández-Boluda, Juan Carlos, Bellosillo Paricio, Beatriz, Nomdedeu, Meritxell, Hernández-Gea, Virginia, Triguero, Ana, Guijarro, Francesca, Álamo, José, Baiges, Anna, Turon, Fanny, Colomer Pujol, Dolors, Cervantes, Francisco, Alvarez-Larrán, Alberto
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/61256
Acceso en línea:http://hdl.handle.net/10230/61256
http://dx.doi.org/10.1007/s00277-023-05610-x
Access Level:acceso abierto
Palabra clave:Trombosi
Policitèmia
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spelling Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronologyGarrote, MartaLópez-Guerra, MónicaGarcía Pagán, Juan CarlosArellano-Rodrigo, EduardoFerrer-Marín, FranciscaHernández-Boluda, Juan CarlosBellosillo Paricio, BeatrizNomdedeu, MeritxellHernández-Gea, VirginiaTriguero, AnaGuijarro, FrancescaÁlamo, JoséBaiges, AnnaTuron, FannyColomer Pujol, DolorsCervantes, FranciscoAlvarez-Larrán, AlbertoTrombosiPolicitèmiaTo 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.Springer202420242024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/61256http://dx.doi.org/10.1007/s00277-023-05610-xreponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésAnn Hematol. 2024 Mar;103(3):737-47© 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/.http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/612562026-05-29T05:05:01Z
dc.title.none.fl_str_mv Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology
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
spellingShingle Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology
Garrote, Marta
Trombosi
Policitèmia
title_short Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology
title_full Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology
title_fullStr Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology
title_full_unstemmed Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology
title_sort 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.creator.none.fl_str_mv Garrote, Marta
López-Guerra, Mónica
García Pagán, Juan Carlos
Arellano-Rodrigo, Eduardo
Ferrer-Marín, Francisca
Hernández-Boluda, Juan Carlos
Bellosillo Paricio, Beatriz
Nomdedeu, Meritxell
Hernández-Gea, Virginia
Triguero, Ana
Guijarro, Francesca
Álamo, José
Baiges, Anna
Turon, Fanny
Colomer Pujol, Dolors
Cervantes, Francisco
Alvarez-Larrán, Alberto
author Garrote, Marta
author_facet Garrote, Marta
López-Guerra, Mónica
García Pagán, Juan Carlos
Arellano-Rodrigo, Eduardo
Ferrer-Marín, Francisca
Hernández-Boluda, Juan Carlos
Bellosillo Paricio, Beatriz
Nomdedeu, Meritxell
Hernández-Gea, Virginia
Triguero, Ana
Guijarro, Francesca
Álamo, José
Baiges, Anna
Turon, Fanny
Colomer Pujol, Dolors
Cervantes, Francisco
Alvarez-Larrán, Alberto
author_role author
author2 López-Guerra, Mónica
García Pagán, Juan Carlos
Arellano-Rodrigo, Eduardo
Ferrer-Marín, Francisca
Hernández-Boluda, Juan Carlos
Bellosillo Paricio, Beatriz
Nomdedeu, Meritxell
Hernández-Gea, Virginia
Triguero, Ana
Guijarro, Francesca
Álamo, José
Baiges, Anna
Turon, Fanny
Colomer Pujol, Dolors
Cervantes, Francisco
Alvarez-Larrán, Alberto
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Trombosi
Policitèmia
topic Trombosi
Policitèmia
description 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.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/61256
http://dx.doi.org/10.1007/s00277-023-05610-x
url http://hdl.handle.net/10230/61256
http://dx.doi.org/10.1007/s00277-023-05610-x
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Ann Hematol. 2024 Mar;103(3):737-47
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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