International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Détails
Télécharger: 34021277_BIB_5A5B625D1D0B.pdf (1281.47 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_5A5B625D1D0B
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Périodique
Nature reviews. Endocrinology
ISSN
1759-5037 (Electronic)
ISSN-L
1759-5029
Statut éditorial
Publié
Date de publication
07/2021
Peer-reviewed
Oui
Volume
17
Numéro
7
Pages
435-444
Langue
anglais
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Publication Status: ppublish
Résumé
Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might carry SDHx mutations have not yet been agreed. Thus, we established an international consensus algorithm of clinical, biochemical and imaging screening at diagnosis and during surveillance for both adults and children. An international panel of 29 experts from 12 countries was assembled, and the Delphi method was used to reach a consensus on 41 statements. This Consensus Statement covers a range of topics, including age of first genetic testing, appropriate biochemical and imaging tests for initial tumour screening and follow-up, screening for rare SDHx-related tumours and management of elderly people who have an SDHx mutation. This Consensus Statement focuses on the management of asymptomatic SDHx mutation carriers and provides clinicians with much-needed guidance. The standardization of practice will enable prospective studies in the near future.
Mots-clé
Adult, Aged, Algorithms, Asymptomatic Diseases, Child, Consensus, Genetic Carrier Screening/methods, Genetic Carrier Screening/standards, Genetic Testing/standards, Germ-Line Mutation, Heterozygote, Humans, Internationality, Mass Screening/methods, Mass Screening/standards, Monitoring, Physiologic/methods, Monitoring, Physiologic/standards, Succinate Dehydrogenase/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/05/2021 16:20
Dernière modification de la notice
23/11/2022 7:11