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Adrenal tumors

when to search for a germline abnormality?

Gimenez-Roqueplo, Anne-Paulea,b,c,d

doi: 10.1097/CCO.0000000000000525
ENDOCRINE TUMORS: Edited by Christiane Jungels

Purpose of review Over the last 20 years, the genetic landscape of adrenal tumours has been transformed by the identification of multiple susceptibility genes for the various tumour types. We review these recent developments here, and describe current recommendations for genetic testing in patients with tumours of the adrenal medulla and extra-adrenal paraganglia or the adrenal cortex.

Recent findings Phaeochromocytomas (adrenal medulla tumours) and paragangliomas, aldosterone-producing adenomas, primary macronodular adrenal hyperplasia, primary pigmented nodular adrenocortical disease and adrenocortical carcinoma (adrenal cortex tumours) may all be caused by a germline mutation in a specific gene, regardless of the presence/absence of a family history or syndromic disease at initial diagnosis. Dedicated genetic testing is now indicated in all these conditions, and in patients with clinical features suggestive of a specific inherited disease.

Summary Genetic testing should be considered in all patients with adrenal tumours, and is crucial for correct management. The identification of a germline mutation in a susceptibility gene guides treatment in patients with adrenal cancer and will facilitate risk-adapted screening/surveillance protocols in mutation carriers.

aINSERM, UMR970, Equipe Génétique et Métabolisme des cancers rares

bEquipe Labellisée Ligue Contre le Cancer

cFaculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité

dAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France

Correspondence to Pr Anne-Paule Gimenez-Roqueplo, Service de Génétique, Hôpital Européen Georges Pompidou, 20–40 rue Leblanc, F-75015 Paris, France. Tel: +33 1 56 09 38 81; fax: +33 1 56 09 38 84; e-mail:

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