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Article Dans Une Revue Nature Reviews Endocrinology Année : 2021

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

1 HEGP - Hôpital Européen Georges Pompidou [APHP]
2 PARCC (UMR_S 970/ U970) - Paris-Centre de Recherche Cardiovasculaire
3 NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
4 CHU Tenon [AP-HP]
5 St Bartholomew's Hospital
6 KCH - King's College Hospital
7 IGR - Institut Gustave Roussy
8 Médecine nucléaire
9 RNSH - Royal North Shore Hospital
10 The University of Sydney
11 UTSA - The University of Texas at San Antonio
12 University of Würzburg
13 Churchill Hospital
14 Royal Free Hospital [London, UK]
15 Barts & The London School of Medicine and Dentistry
16 Hôpital Lariboisière-Fernand-Widal [APHP]
17 University of Melbourne
18 WARSAW - Cardiology - Institute of Cardiology
19 The University of Texas M.D. Anderson Cancer Center [Houston]
20 Radboud University Medical Center [Nijmegen]
21 MUMC - Maastricht University Medical Centre
22 UniFI - Università degli Studi di Firenze = University of Florence
23 Kyoto Medical Center
24 CNIO - Spanish National Cancer Research Center
25 Grupo de Medicina Xenómica - Centro de Investigación Biomédica en Red de Enfermedades Raras - CIBERER [Santiago de Compostela, Spain]
26 TIMONE - Hôpital de la Timone [CHU - APHM]
27 EOC - Ente Ospedaliero Cantonale
28 CHUV - Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital [Lausanne]
29 USI - Università della Svizzera italiana = University of Italian Switzerland
30 Mayo Clinic
31 TU Dresden - Technische Universität Dresden = Dresden University of Technology
32 CHU Pitié-Salpêtrière [AP-HP]
Olivier Steichen
Eric Baudin
Martin Fassnacht
Andrzej Januszewicz
Mitsuhide Naruse
David Taïeb
William F Young
  • Fonction : Auteur

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.
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Dates et versions

hal-03241032 , version 1 (28-05-2021)

Identifiants

Citer

Laurence Amar, Karel Pacak, Olivier Steichen, Scott A Akker, Simon J B Aylwin, et al.. International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nature Reviews Endocrinology, In press, ⟨10.1038/s41574-021-00492-3⟩. ⟨hal-03241032⟩
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