Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

Research output: Contribution to journalReview articleContributedpeer-review

Contributors

  • David Taïeb - , Aix-Marseille Université (Author)
  • George B Wanna - , Icahn School of Medicine at Mount Sinai (Author)
  • Maleeha Ahmad - , Stanford Medicine (Author)
  • Charlotte Lussey-Lepoutre - , Sorbonne Paris North University (Author)
  • Nancy D Perrier - , University of Texas at Austin (Author)
  • Svenja Nölting - , University Hospital Zurich (Author)
  • Laurence Amar - , Université Paris Cité (Author)
  • Henri J L M Timmers - , Radboud University Medical Center (Author)
  • Zachary G Schwam - , Icahn School of Medicine at Mount Sinai (Author)
  • Anthony L Estrera - , Memorial Hermann Hospital Heart and Vascular Institute (Author)
  • Michael Lim - , Stanford Medicine (Author)
  • Erqi Liu Pollom - , Stanford Medicine (Author)
  • Lucas Vitzthum - , Stanford Medicine (Author)
  • Isabelle Bourdeau - , University Hospital Carl Gustav Carus Dresden (Author)
  • Ruth T Casey - , University of Cambridge (Author)
  • Frédéric Castinetti - , Aix-Marseille Université (Author)
  • Roderick Clifton-Bligh - , University of Sydney (Author)
  • Eleonora P M Corssmit - , Leiden University Medical Centre (LUMC) (Author)
  • Ronald R de Krijger - , University Medical Center (UMC) Utrecht (Author)
  • Jaydira Del Rivero - , National Cancer Institute (Author)
  • Graeme Eisenhofer - , Institute of Clinical Chemistry and Laboratory Medicine, Department of internal Medicine 3, University Hospital Carl Gustav Carus Dresden (Author)
  • Hans K Ghayee - , University of Florida (Author)
  • Anne-Paule Gimenez-Roqueplo - , Université Paris Cité (Author)
  • Ashley Grossman - , University of Oxford (Author)
  • Alessio Imperiale - , University of Strasbourg (Author)
  • Jeroen C Jansen - , Leiden University Medical Centre (LUMC) (Author)
  • Abhishek Jha - , National Institutes of Health (NIH) (Author)
  • Michiel N Kerstens - , University Medical Center Groningen (Author)
  • Henricus P M Kunst - , Radboud University Medical Center (Author)
  • James K Liu - , Rutgers - The State University of New Jersey, New Brunswick (Author)
  • Eamonn R Maher - , University of Cambridge (Author)
  • Daniele Marchioni - , University and Hospital Trust of Verona (Author)
  • Leilani B Mercado-Asis - , University of Santo Tomas Hospital (Author)
  • Ozgur Mete - , University of Toronto (Author)
  • Mitsuhide Naruse - , Medical Center and Endocrine Center (Author)
  • Naris Nilubol - , National Cancer Institute (Author)
  • Neeta Pandit-Taskar - , Memorial Sloan-Kettering Cancer Center (Author)
  • Frédéric Sebag - , Aix-Marseille Université (Author)
  • Akiyo Tanabe - , National Center for Global Health and Medicine (Author)
  • Jiri Widimsky - , General University Hospital in Prague (Author)
  • Leah Meuter - , Stanford Medicine (Author)
  • Jacques W M Lenders - , Radboud University Medical Center (Author)
  • Karel Pacak - , National Institutes of Health (NIH) (Author)

Abstract

Patients with germline SDHD pathogenic variants (encoding succinate dehydrogenase subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck paragangliomas, which, in almost 20% of patients, might coexist with paragangliomas arising from other locations (eg, adrenal medulla, para-aortic, cardiac or thoracic, and pelvic). Given the higher risk of tumour multifocality and bilaterality for phaeochromocytomas and paragangliomas (PPGLs) because of SDHD pathogenic variants than for their sporadic and other genotypic counterparts, the management of patients with SDHD PPGLs is clinically complex in terms of imaging, treatment, and management options. Furthermore, locally aggressive disease can be discovered at a young age or late in the disease course, which presents challenges in balancing surgical intervention with various medical and radiotherapeutic approaches. The axiom-first, do no harm-should always be considered and an initial period of observation (ie, watchful waiting) is often appropriate to characterise tumour behaviour in patients with these pathogenic variants. These patients should be referred to specialised high-volume medical centres. This consensus guideline aims to help physicians with the clinical decision-making process when caring for patients with SDHD PPGLs.

Details

Original languageEnglish
Pages (from-to)345-361
Number of pages17
JournalThe Lancet. Diabetes & endocrinology
Volume11
Issue number5
Publication statusPublished - May 2023
Peer-reviewedYes

External IDs

PubMedCentral PMC10182476
Scopus 85152526589

Keywords

Keywords

  • Humans, Adrenal Gland Neoplasms/diagnosis, Germ-Line Mutation/genetics, Paraganglioma/diagnosis, Pheochromocytoma/diagnosis, Succinate Dehydrogenase/genetics, Practice Guidelines as Topic