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Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

dc.rights.licenseopenen_US
dc.contributor.authorFAIVRE, Laurence
dc.contributor.authorCRÉPIN, Jean-Charles
dc.contributor.authorRÉDA, Manon
dc.contributor.authorNAMBOT, Sophie
dc.contributor.authorCARMIGNAC, Virginie
dc.contributor.authorABADIE, Caroline
dc.contributor.authorMIRAULT, Tristan
dc.contributor.authorFAURE-CONTER, Cécile
dc.contributor.authorMAZEREEUW-HAUTIER, Juliette
dc.contributor.authorMAZA, Aude
dc.contributor.authorPUZENAT, Eve
dc.contributor.authorCOLLONGE-RAME, Marie-Agnès
dc.contributor.authorBURSZTEJN, Anne-Claire
dc.contributor.authorPHILIPPE, Christophe
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.contributor.authorCHEVARIN, Martin
dc.contributor.authorABASQ-THOMAS, Claire
dc.contributor.authorAMIEL, Jeanne
dc.contributor.authorARPIN, Stéphanie
dc.contributor.authorBARBAROT, Sébastien
dc.contributor.authorBAUJAT, Geneviève
dc.contributor.authorBESSIS, Didier
dc.contributor.authorBOURRAT, Emmanuelle
dc.contributor.authorBOUTE, Odile
dc.contributor.authorCHASSAING, Nicolas
dc.contributor.authorCOUBES, Christine
dc.contributor.authorDEMEER, Bénédicte
dc.contributor.authorEDERY, Patrick
dc.contributor.authorEL CHEHADEH, Salima
dc.contributor.authorGOLDENBERG, Alice
dc.contributor.authorHADJ-RABIA, Smail
dc.contributor.authorHAYE, Damien
dc.contributor.authorISIDOR, Bertrand
dc.contributor.authorJACQUEMONT, Marie-Line
dc.contributor.authorVAN KIEN, Philippe Khau
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorLEHALLE, Daphné
dc.contributor.authorLAMBERT, Laetitia
dc.contributor.authorMARTIN, Ludovic
dc.contributor.authorMARUANI, Annabel
dc.contributor.authorMORICE-PICARD, Fanny
dc.contributor.authorPETIT, Florence
dc.contributor.authorPHAN, Alice
dc.contributor.authorPINSON, Lucile
dc.contributor.authorROSSI, Massimiliano
dc.contributor.authorTOURAINE, Renaud
dc.contributor.authorVANLERBERGHE, Clémence
dc.contributor.authorVINCENT, Marie
dc.contributor.authorVINCENT-DELORME, Catherine
dc.contributor.authorWHALEN, Sandra
dc.contributor.authorWILLEMS, Marjolaine
dc.contributor.authorMARLE, Nathalie
dc.contributor.authorVERKARRE, Virginie
dc.contributor.authorDEVALLAND, Christine
dc.contributor.authorDEVOUASSOUX-SHISHEBORAN, Mojgan
dc.contributor.authorABAD, Marine
dc.contributor.authorRIOUX-LECLERCQ, Nathalie
dc.contributor.authorBONNIAUD, Bertille
dc.contributor.authorDUFFOURD, Yannis
dc.contributor.authorMARTEL, Jehanne
dc.contributor.authorBINQUET, Christine
dc.contributor.authorKUENTZ, Paul
dc.contributor.authorVABRES, Pierre
dc.date.accessioned2024-01-09T15:32:05Z
dc.date.available2024-01-09T15:32:05Z
dc.date.issued2023-11-01
dc.identifier.issn1399-0004en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/186983
dc.description.abstractEnThe PIK3CA-related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associated with an increased risk of Wilms tumor (WT). In PROS, abdominal ultrasound surveillance has been advocated to detect WT. We aimed to determine the risk of embryonic and other types of tumors in patients with PROS in order to evaluate surveillance relevance. We searched the clinical charts from 267 PROS patients for the diagnosis of cancer, and reviewed the medical literature for the risk of cancer. In our cohort, six patients developed a cancer (2.2%), and Kaplan Meier analyses estimated cumulative probabilities of cancer occurrence at 45 years of age was 5.6% (95% CI = 1.35%-21.8%). The presence of the PIK3CA variant was only confirmed in two out of four tumor samples. In the literature and our cohort, six cases of Wilms tumor/nephrogenic rests (0.12%) and four cases of other cancers have been reported out of 483 proven PIK3CA patients, in particular the p.(His1047Leu/Arg) variant. The risk of WT in PROS being lower than 5%, this is insufficient evidence to recommend routine abdominal imaging. Long-term follow-up studies are needed to evaluate the risk of other cancer types, as well as the relationship with the extent of tissue mosaicism and the presence or not of the variant in the tumor samples.
dc.language.isoENen_US
dc.subject.enCancer
dc.subject.enPIK3CA
dc.subject.enPIK3CA-related overgrowth spectrum (PROS)
dc.subject.enWilms tumor
dc.title.enLow risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
dc.title.alternativeClin Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/cge.14410en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed37580112en_US
bordeaux.journalClinical Geneticsen_US
bordeaux.page554-563en_US
bordeaux.volume104en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue5en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
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