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A molecular signature predicts hematologic evolution in polycythemia vera patients

dc.rights.licenseopenen_US
hal.structure.identifierBiologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
dc.contributor.authorMANSIER, Olivier
hal.structure.identifierGénétique, génomique fonctionnelle et biotechnologies (UMR 1078) [GGB]
dc.contributor.authorLIPPERT, Eric
hal.structure.identifierGénomes, biologie cellulaire et thérapeutiques [GenCellDis (U944 / UMR7212)]
dc.contributor.authorBENAJIBA, Lina
dc.contributor.authorRANTA, Dana
dc.contributor.authorGIRODON, François
dc.contributor.authorIANOTTO, Jean-Christophe
dc.contributor.authorCHAUVEAU, Aurélie
hal.structure.identifierUniversité Paris-Est Créteil Val-de-Marne - Faculté de médecine [UPEC Médecine]
dc.contributor.authorROY, Lydia
hal.structure.identifierCentre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers [CRCI2NA]
dc.contributor.authorBOYER, Françoise
dc.contributor.authorMÉDIAVILLA, Clémence
hal.structure.identifierInstitut Universitaire du Cancer de Toulouse - Oncopole [IUCT Oncopole - UMR 1037]
dc.contributor.authorTAVITIAN, Suzanne
dc.contributor.authorDIVOUX, Marion
dc.contributor.authorFANET, Mélinda
hal.structure.identifierInstitut Mondor de Recherche Biomédicale [IMRB]
dc.contributor.authorSLOMA, Ivan
hal.structure.identifierInstitut Universitaire du Cancer de Toulouse - Oncopole [IUCT Oncopole - UMR 1037]
dc.contributor.authorDE MAS, Véronique
dc.contributor.authorDENIS, Guillaume
dc.contributor.authorNUNES GOMES, Christopher
dc.contributor.authorCALMETTES, Claire
dc.contributor.authorBARRACO, Fiorenza
dc.contributor.authorHUET, Sarah
dc.contributor.authorVACHERET, Fabienne
dc.contributor.authorMERCIER, Mélanie
dc.contributor.authorPARRY, Anne
dc.contributor.authorLEGROS, Laurence
hal.structure.identifierGénomes, biologie cellulaire et thérapeutiques [GenCellDis (U944 / UMR7212)]
dc.contributor.authorSORET-DULPHY, Juliette
dc.contributor.authorARGENTIN, Joris
dc.contributor.authorSUREAU, Léa
hal.structure.identifierHopital Saint-Louis [AP-HP] [AP-HP]
dc.contributor.authorVERGER, Emmanuelle
hal.structure.identifierCentre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers [CRCI2NA]
dc.contributor.authorORVAIN, Corentin
hal.structure.identifierMicro et Nanomédecines Translationnelles [MINT]
dc.contributor.authorRIOU, Jérémie
hal.structure.identifierGénomes, biologie cellulaire et thérapeutiques [GenCellDis (U944 / UMR7212)]
dc.contributor.authorKILADJIAN, Jean-Jacques
hal.structure.identifierHopital Saint-Louis [AP-HP] [AP-HP]
dc.contributor.authorCASSINAT, Bruno
hal.structure.identifierCentre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers [CRCI2NA]
dc.contributor.authorUGO, Valérie
hal.structure.identifierInnate Immunity and Immunotherapy [CRCI2NA / Eq 4]
dc.contributor.authorLUQUE PAZ, Damien
dc.date.accessioned2025-09-01T07:44:12Z
dc.date.available2025-09-01T07:44:12Z
dc.date.issued2025-06-18
dc.identifier.issn0887-6924en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/207537
dc.description.abstractEnGenetic analyses have been included in scoring systems to improve the prognostic stratification of hematologic malignancies. Until now, molecular risk scores have not been included into the practical management of patients with polycythemia vera (PV). In this work, we studied 439 PV patients recruited from 15 French centers and described their mutational landscape using high-throughput sequencing. We detected an additional mutation in 53.3% of patients, 22.7% of them having 2 or more mutations. A Bayesian approach identified preferential associations between mutations. Based on these associations, we identified high molecular risk abnormalities in PV (PV-HMR), consisting in mutations in SRSF2 , IDH1/2 , EZH2 or NFE2 genes, copy number variations (CNV) and carrying 2 or more non-driver mutations. These PV-HMR were associated with decreased overall survival (OS) and/or transformation-free survival (TFS). Notably, ASXL1 mutations were not associated with a pejorative impact on OS or TFS when isolated. Based on these results, we developed a genomic 3-tier classification that efficiently predicted OS and more importantly TFS independently of age, sex, history of thrombosis and leukocyte and platelet counts. This model outperformed the IWG-PV and MIPSS-PV scoring systems in predicting the hematologic evolution of PV patients, which was confirmed in 2 external cohorts.
dc.language.isoENen_US
dc.title.enA molecular signature predicts hematologic evolution in polycythemia vera patients
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41375-025-02660-0en_US
dc.subject.halSciences du Vivant [q-bio]/Canceren_US
dc.subject.halSciences du Vivant [q-bio]/Génétique/Génétique humaineen_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologie/Hématologieen_US
dc.identifier.pubmed40533498en_US
bordeaux.journalLeukemiaen_US
bordeaux.hal.laboratoriesBiologie des maladies cardiovasculaires (BMC) - UMR 1034en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcehal
hal.identifierhal-05186384
hal.version1
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcehal
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Leukemia&rft.date=2025-06-18&rft.eissn=0887-6924&rft.issn=0887-6924&rft.au=MANSIER,%20Olivier&LIPPERT,%20Eric&BENAJIBA,%20Lina&RANTA,%20Dana&GIRODON,%20Fran%C3%A7ois&rft.genre=article


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