Mutations associated with succinate dehydrogenase d-related malignant paragangliomas

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Henri J.L.M. Timmers - , Eunice Kennedy Shriver National Institute of Child Health and Human Development, Radboud University Nijmegen (Autor:in)
  • Karel Pacak - , Eunice Kennedy Shriver National Institute of Child Health and Human Development (Autor:in)
  • Jérôme Bertherat - , Assistance publique – Hôpitaux de Paris, INSERM - Institut national de la santé et de la recherche médicale, Universität Paris Descartes 5 (Autor:in)
  • Jacques W.M. Lenders - , Radboud University Nijmegen (Autor:in)
  • Michèle Duet - , Université Paris Cité (Autor:in)
  • Graeme Eisenhofer - , National Institutes of Health (NIH) (Autor:in)
  • Constantine A. Stratakis - , Eunice Kennedy Shriver National Institute of Child Health and Human Development (Autor:in)
  • Patricia Niccoli-Sire - , Assistance publique - Hôpitaux de Marseille (Autor:in)
  • Patrice Tran Ba Huy - , Université Paris Cité (Autor:in)
  • Nelly Burnichon - , Hopital Europeen Georges-Pompidou (Autor:in)
  • Anne Paule Gimenez-Roqueplo - , Hopital Europeen Georges-Pompidou, Université Paris Cité, INSERM - Institut national de la santé et de la recherche médicale, College de France (Autor:in)

Abstract

Objective: Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential. Recently, however, malignant PGLs were also reported among a small minority of Dutch carriers of the SDHD founder mutation D92Y. The aim of the study was to investigate which SDHD mutations are associated with malignant PGL. Design: Case histories; collaborative study between referral centres in France, the USA, and the Netherlands. Patients: Six unrelated patients with metastatic PGLs of either sympathetic or parasympathetic origin. Measurements: Assessment of SDHD mutations underlying malignant PGL. Results: Germline SDHD mutations underlying metastatic PGL were G148D, Y114X, L85X, W43X, D92Y, and IVS2+5G→A. Conclusion: Our findings indicate that malignant SDHD-related PGL is associated with several mutations besides D92Y.

Details

OriginalspracheEnglisch
Seiten (von - bis)561-566
Seitenumfang6
FachzeitschriftClinical endocrinology
Jahrgang68
Ausgabenummer4
PublikationsstatusVeröffentlicht - Apr. 2008
Peer-Review-StatusJa
Extern publiziertJa

Externe IDs

PubMed 17973943

Schlagworte