International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Details
Serval ID
serval:BIB_5A5B625D1D0B
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Journal
Nature reviews. Endocrinology
ISSN
1759-5037 (Electronic)
ISSN-L
1759-5029
Publication state
Published
Issued date
07/2021
Peer-reviewed
Oui
Volume
17
Number
7
Pages
435-444
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Publication Status: ppublish
Abstract
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.
Keywords
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
Yes
Create date
28/05/2021 16:20
Last modification date
23/11/2022 7:11