International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers

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,SDHCandSDHD), which encode the four subunits of the SDH enzyme. When a pathogenicSDHxmutation 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 carrySDHxmutations 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 rareSDHx-related tumours and management of elderly people who have anSDHxmutation. This Consensus Statement focuses on the management of asymptomaticSDHxmutation carriers and provides clinicians with much-needed guidance. The standardization of practice will enable prospective studies in the near future.

Overview publication

TitleInternational consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
DateJuly 1st, 2021
Issue nameNature Reviews Endocrinology
Issue numberv17.7 p435-444
DOI10.1038/s41574-021-00492-3
AuthorsAmar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo A & Lussey-Lepoutre C
MTGsMTG1 MTG4
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