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Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression

dc.rights.licenseopenen_US
dc.contributor.authorCOTTIN, Laurane
dc.contributor.authorRIOU, Jérémie
dc.contributor.authorORVAIN, Corentin
dc.contributor.authorIANOTTO, Jean Christophe
dc.contributor.authorBOYER, Françoise
dc.contributor.authorRENARD, Maxime
dc.contributor.authorTRUCHAN-GRACZYK, Matgorzata
dc.contributor.authorMURATI, Anne
dc.contributor.authorJOUANNEAU-COURVILLE, Rébecca
dc.contributor.authorALLANGBA, Olivier
hal.structure.identifierBiologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
dc.contributor.authorMANSIER, Olivier
dc.contributor.authorBURRONI, Barbara
dc.contributor.authorROUSSELET, Marie-Christine
dc.contributor.authorQUINTIN-ROUÉ, Isabelle
dc.contributor.authorMARTIN, Antoine
dc.contributor.authorSADOT-LEBOUVIER, Sophie
dc.contributor.authorDELNESTE, Yves
dc.contributor.authorCHRÉTIEN, Jean-Marie
dc.contributor.authorHUNAULT-BERGER, Mathilde
dc.contributor.authorBLANCHET, Odile
dc.contributor.authorLIPPERT, Eric
dc.contributor.authorUGO, Valérie
dc.contributor.authorLUQUE PAZ, Damien
dc.date.accessioned2020-10-19T14:46:44Z
dc.date.available2020-10-19T14:46:44Z
dc.date.issued2020
dc.identifier.issn1365-2141en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/11442
dc.description.abstractEnIn myeloproliferative neoplasms (MPN), JAK2V617F allele burden measurement has an impact on prognosis that helps in patient monitoring. Less is known about its usefulness in CALR-mutated cases. Additional mutations found by next-generation sequencing have also shown an impact on prognosis that may drive therapeutic choices, especially in myelofibrosis, but few studies focused on CALR-mutated patients. We performed a molecular evaluation combining next-generation sequencing with a myeloid panel and CALR allele burden measurement at diagnosis and during follow-up in a cohort of 45 patients with CALR-mutated essential thrombocythaemia. The bone marrow histology was also blindly reviewed in order to apply the WHO2016 classification. The most frequently mutated gene was TET2 (11/21 mutations). CALR type 1-like patients appear to have a more complex molecular landscape. We found an association between disease progression and CALR allele burden increase during follow-up, independently of additional mutations and WHO2016-reviewed diagnosis. Patients with disease progression at the time of follow-up showed a significant increase in CALR allele burden (+16·7%, P = 0·005) whereas patients without disease progression had a stable allele burden (+3·7%, P = 0·194). This result argues for clinical interest in CALR allele burden monitoring.
dc.language.isoENen_US
dc.subjectCALR
dc.subjectMyeloproliferative neoplasms
dc.subjectNext-generation sequencing
dc.subject.enClinique
dc.title.enSequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/bjh.16276en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed31710700en_US
bordeaux.journalBritish Journal of Haematologyen_US
bordeaux.page935–944en_US
bordeaux.volume188en_US
bordeaux.hal.laboratoriesBiologie des maladies cardiovasculaires - U1034en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
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