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

被引：114

作者：

Amar, Laurence ^{[1
,2
]}

Pacak, Karel ^{[3
]}

Steichen, Olivier ^{[4
]}

Akker, Scott A. ^{[5
]}

Aylwin, Simon J. B. ^{[6
]}

Baudin, Eric ^{[7
,8
]}

Buffet, Alexandre ^{[2
,9
]}

Burnichon, Nelly ^{[2
,9
]}

Clifton-Bligh, Roderick J. ^{[10
,11
]}

Dahia, Patricia L. M. ^{[12
]}

Fassnacht, Martin ^{[13
]}

Grossman, Ashley B. ^{[14
,15
,16
]}

Herman, Philippe ^{[17
]}

Hicks, Rodney J. ^{[18
]}

Januszewicz, Andrzej ^{[19
]}

Jimenez, Camilo ^{[20
]}

Kunst, Henricus P. M. ^{[21
,22
]}

Lewis, Dylan ^{[6
]}

Mannelli, Massimo ^{[23
]}

Naruse, Mitsuhide ^{[24
,25
]}

Robledo, Mercedes ^{[26
,27
]}

Taieb, David ^{[28
]}

Taylor, David R. ^{[6
]}

Timmers, Henri J. L. M. ^{[29
]}

Treglia, Giorgio ^{[30
,31
,32
]}

Tufton, Nicola ^{[5
]}

Young, William F. ^{[33
]}

Lenders, Jacques W. M. ^{[29
,34
]}

Gimenez-Roqueplo, Anne-Paule ^{[2
,9
]}

Lussey-Lepoutre, Charlotte ^{[2
,35
]}

机构：

[1] Paris Univ, Hop Europeen Georges Pompidou, AP HP, Hypertens Unit, Paris, France

[2] INSERM, PARCC, Equipe Labellisee Ligue Canc, Paris, France

[3] Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD USA

[4] Sorbonne Univ, Hop Tenon, AP HP, Dept Internal Med, Paris, France

[5] St Bartholomews Hosp, Barts Hlth NHS Trust, London, England

[6] Kings Coll Hosp NHS Fdn Trust, London, England

[7] Gustave Roussy Inst, Villejuif, France

[8] Paris Saclay Univ, Villejuif, France

[9] Hop Europeen Georges Pompidou, AP HP, Genet Dept, Paris, France

[10] Royal North Shore Hosp, Dept Endocrinol, St Leonards, NSW, Australia

[11] Univ Sydney, Sydney Med Sch, Fac Med & Hlth, Sydney, NSW, Australia

[12] Univ Texas Hlth Sci Ctr San Antonio, Dept Med, Mays Canc Ctr, San Antonio, TX 78229 USA

[13] Univ Wurzburg, Univ Hosp, Div Endocrinol & Diabet, Dept Internal Med, Wurzburg, Germany

[14] Churchill Hosp, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[15] Royal Free Hosp, NET Unit, London, England

[16] Barts & London Queen Marys Sch Med & Dent, Ctr Endocrinol, London, England

[17] Univ Paris, Lariboisiere Hosp, AP HP, ENT Unit, Paris, France

[18] Univ Melbourne, Peter MacCallum Canc Ctr, Melbourne, Vic, Australia

[19] Natl Inst Cardiol, Dept Hypertens, Warsaw, Poland

[20] Univ Texas MD Anderson Canc Ctr, Dept Endocrine Neoplasia & Hormonal Disor, Houston, TX 77030 USA

[21] Radboud Univ Nijmegen, Med Ctr, Dept ENT, Nijmegen, Netherlands

[22] Maastricht Univ, Med Ctr, Maastricht, Netherlands

[23] Univ Florence, Dept Expt & Clin Biomed Sci, Florence, Italy

[24] Ijinkai Takeda Gen Hosp, Endocrine Ctr, Kyoto, Japan

[25] NHO Kyoto Med Ctr, Clin Res Inst, Kyoto, Japan

[26] Spanish Natl Canc Res Ctr CNIO, Hereditary Endocrine Canc Group, Madrid, Spain

[27] Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain

[28] Aix Marseille Univ, La Timone Univ Hosp, European Ctr Res Med Imaging, Marseille, France

[29] Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Nijmegen, Netherlands

[30] Ente Osped Cantonale, Bellinzona, Switzerland

[31] Univ Svizzera Italiana, Fac Biomed Sci, Lugano, Switzerland

[32] Univ Lausanne, Fac Biol & Med, Lausanne, Switzerland

[33] Mayo Clin, Div Endocrinol Diabet Metab & Nutr, Rochester, MN USA

[34] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dresden, Germany

[35] Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Nucl Med Dept, Paris, France

来源：

NATURE REVIEWS ENDOCRINOLOGY | 2021年 / 17卷 / 07期

关键词：

GASTROINTESTINAL STROMAL TUMORS; CAROTID-BODY TUMORS; HIGH-ALTITUDE; MATERNAL TRANSMISSION; CLINICAL UTILITY; PARAGANGLIOMA; PHEOCHROMOCYTOMA; GENE; METANEPHRINES; PENETRANCE;

D O I：

10.1038/s41574-021-00492-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This Consensus Statement discusses the management of asymptomatic individuals with 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. These individuals are at increased risk of phaeochromocytoma and/or paraganglioma. 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.

引用

页码：435 / 444

页数：10

共 82 条

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