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Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
  1. Nelly Burnichon1,2,3,
  2. Jean-Michaël Mazzella1,
  3. Delphine Drui4,
  4. Laurence Amar2,3,5,
  5. Jérôme Bertherat2,6,7,
  6. Isabelle Coupier8,
  7. Brigitte Delemer9,
  8. Isabelle Guilhem10,
  9. Philippe Herman11,
  10. Véronique Kerlan12,
  11. Antoine Tabarin13,
  12. Nelly Wion14,
  13. Khadija Lahlou-Laforet15,
  14. Judith Favier2,3,
  15. Anne-Paule Gimenez-Roqueplo1,2,3,7
  1. 1Service de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France
  2. 2Faculté de Médecine, Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France
  3. 3INSERM, UMR970, Paris-Centre de Recherche Cardiovasculaire, Paris, France
  4. 4Service d'Endocrinologie, Centre Hospitalier Universitaire de Nantes, Hôpital Nord Laënnec, Nantes, France
  5. 5Unité d'Hypertension artérielle, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France
  6. 6Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Service d'Endocrinologie “Centre de référence maladies rares de la surrénale”, Paris, France
  7. 7Centre Expert National COMETE-Cancer de la surrénale, Paris, France
  8. 8Service de Génétique Médicale, unité d'Oncogénétique, Centre Hospitalier Universitaire de Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, Cedex, France
  9. 9Centre Hospitalier Universitaire de Reims, Département d'Endocrinologie, Diabétologie et Nutrition, Reims, France
  10. 10Service d'Endocrinologie-Diabétologie-Nutrition, Centre Hospitalier Universitaire de Rennes, Hôpital Sud, Rennes, France
  11. 11Assistance Publique-Hôpitaux de Paris, Hôpital Lariboisière, Département d'Oto-rhino-laryngologie et de Chirurgie de la tête et du cou, Paris, France
  12. 12Service d'Endocrinologie-Diabétologie-Nutrition, Centre Hospitalier Universitaire de Brest, Hôpital de la Cavale Blanche, Brest, France
  13. 13Département d'Endocrinologie, Centre Hospitalier Universitaire de Bordeaux, Hôpital de Haut-Lévêque, Pessac, France
  14. 14Centre Hospitalier Universitaire de Grenoble, Hôpital Nord, Service d'Endocrinologie-Diabétologie-Nutrition, Grenoble, France
  15. 15Service de Psychiatrie de l'Adulte et du Sujet Agé, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Unité de Psychiatrie de Liaison, Paris, France
  1. Correspondence to Dr Nelly Burnichon, INSERM U970, Team 13, PARCC HEGP, 56 rue Leblanc, Paris F-75015, France; nelly.burnichon{at}


Background Germline mutations in the SDHD tumour suppressor gene (11q23.1) predispose to phaeochromocytomas and paragangliomas (PPGL) mainly on a paternal transmission. However, PPGL have been recently reported in three carriers of a maternally inherited SDHD mutation.

Objective To assess the risk of PPGL occurrence on maternal transmission of SDHD mutation.

Methods Pedigrees of 80 SDHD-related families have been reviewed. 35 asymptomatic subjects carrying a maternally transmitted SDHD mutation were identified. 20 of them accepted to benefit from a PPGL imaging screening.

Results A unique histologically proven biochemically negative phaeochromocytoma has been diagnosed in a 35-year-old woman. Molecular investigations carried out on tumour tissue revealed that the loss of heterozygosity encompassed the paternally derived q arm and the maternally derived p arm of chromosome 11.

Conclusions This study demonstrates that the risk of developing PPGL for a subject carrying a germline SDHD mutation on the maternal allele remains a rare scenario but does exist. Our data suggest an adjustment of current genetic counselling and clinical care recommendations for at-risk subjects. A targeted familial genetic test should be proposed from the age of 18 years to every subject having a mother carrying a germline SDHD mutation and a first medical workup, including imaging, should be recommended to SDHD-positive mutation carriers.

  • Adrenal disorders
  • Cancer: endocrine
  • Genetics
  • Genetic screening/counselling
  • Molecular genetics

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  • Contributors NB, J-MM, KL-L, JF and A-PGR contributed to the project design, analysis of the data and/or the drafting of the manuscript. DD, LA, JB, IC, BD, IG, PH, VK, AT and NW recruited patients and family members, clinically characterised the subject and collected the samples. NB and JF performed the biochemical and molecular genetic studies. All authors critically revised the manuscript text and approved the final version. A-PGR supervised the study.

  • Funding NB is supported by the Cancer Research for Personalised Medicine project (Site de Recherche Intégré sur le Cancer).

  • Competing interests None declared.

  • Ethics approval Comité de Protection des Personnes Ile de France II.

  • Provenance and peer review Not commissioned; externally peer reviewed.