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The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high-risk clonal cytopenia of unknown significance.

dc.contributor.authorBRETT, Victor-Emmanuel
dc.contributor.authorLECHEVALIER, Nicolas
dc.contributor.authorTRIMOREAU, Franck
hal.structure.identifierBiologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
dc.contributor.authorDUSSIAU, Charles
dc.contributor.authorDIMICOLI-SALAZAR, Sophie
dc.contributor.authorCOSTER, Lucie
dc.contributor.authorLUQUET, Isabelle
hal.structure.identifierCentre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
dc.contributor.authorNADAL, Nathalie
hal.structure.identifierCHU d'Angers
dc.contributor.authorRIBOURTOUT, Bénédicte
hal.structure.identifierCentre de Recherche des Cordeliers [CRC (UMR_S_1138 / U1138)]
dc.contributor.authorCHAPIRO, Elise
hal.structure.identifierCHU GRENOBLE
dc.contributor.authorLEFEBVRE, Christine
dc.contributor.authorTONDEUR, Sylvie
hal.structure.identifierHôpital Paul Brousse
dc.contributor.authorBALDUCCI, Estelle
dc.contributor.authorNGUYEN-KHAC, Florence
hal.structure.identifierHôpital Paul Brousse
dc.contributor.authorBORIE, Claire
hal.structure.identifierHôpital Necker
dc.contributor.authorRADFORD-WEISS, Isabelle
hal.structure.identifierCHU Bretonneau
dc.contributor.authorBARIN, Carole
dc.contributor.authorECLACHE, Virginie
hal.structure.identifierBiologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
dc.contributor.authorMANSIER, Olivier
dc.contributor.authorBIDET, Audrey
dc.date.accessioned2023-03-10T07:47:59Z
dc.date.available2023-03-10T07:47:59Z
dc.date.issued2023-03-01
dc.identifier.issn1098-2264en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/172242
dc.description.abstractEnMyelodysplastic syndromes (MDS) are hematological malignancies classically defined by the presence of cytopenia(s) and dysmorphic myeloid cells. It is now known that MDS can be preceded by a pre-malignant condition called clonal cytopenia of unknown significance (CCUS), which associates a clonality marker with cytopenia in the absence of criteria of dysplasia. However, to date, it is not clear whether chromosomal abnormalities should be considered in the definition of CCUS or if they carry a prognostic impact in CCUS patients. In this study, we analyzed the clinico-biological features and outcomes of 34 patients who presented with one or more cytopenias, an absence of significant dysplasia, and a presence of a chromosomal abnormality (CA). We named this entity chromosomal abnormality with cytopenia of undetermined significance (CACtUS). We show that these patients are slightly older than MDS patients and that they more frequently presented with normocytic anemia. Most CACtUS patients exhibited only one unbalanced CA. The number and type of mutations were comparable between CACtUS patients and MDS patients. Regardless of the cytogenetic abnormality, the clinicobiological characteristics, overall survival, and risk of progression to high-risk (HR) MDS were similar between CACtUS patients and low-risk MDS patients. Thus, we suggest that CACtUS patients can be considered as HR-CCUS and should receive the follow-up regimen recommended for MDS patients.
dc.language.isoENen_US
dc.subjectArticle clinique
dc.subject.enHumans
dc.subject.enChromosome Aberrations
dc.subject.enMyelodysplastic Syndromes
dc.subject.enMutation
dc.subject.enHematologic Neoplasms
dc.subject.enChromosome Disorders
dc.subject.enAnemia
dc.title.enThe presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high-risk clonal cytopenia of unknown significance.
dc.title.alternativeGenes Chromosomes Canceren_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/gcc.23107en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed36412977en_US
bordeaux.journalGenes, Chromosomes & Canceren_US
bordeaux.page139-151en_US
bordeaux.volume62en_US
bordeaux.hal.laboratoriesBiologie des maladies cardiovasculaires (BMC) - UMR 1034en_US
bordeaux.issue3en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04022577
hal.version1
hal.date.transferred2023-03-10T07:48:02Z
hal.exporttrue
workflow.import.sourcepubmed
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