Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • David Taïeb - , Aix-Marseille Université (Autor:in)
  • Svenja Nölting - , Universitätsspital Zürich (Autor:in)
  • Nancy D Perrier - , University of Texas at Austin (Autor:in)
  • Martin Fassnacht - , University Hospital Olomouc (Autor:in)
  • Jorge A Carrasquillo - , Memorial Sloan-Kettering Cancer Center (Autor:in)
  • Ashley B Grossman - , University of Oxford (Autor:in)
  • Roderick Clifton-Bligh - , University of Sydney (Autor:in)
  • George B Wanna - , Icahn School of Medicine at Mount Sinai (Autor:in)
  • Zachary G Schwam - , Icahn School of Medicine at Mount Sinai (Autor:in)
  • Laurence Amar - , Université Paris Cité (Autor:in)
  • Isabelle Bourdeau - , Universitätsklinikum Carl Gustav Carus Dresden (Autor:in)
  • Ruth T Casey - , University of Cambridge (Autor:in)
  • Joakim Crona - , Uppsala University (Autor:in)
  • Cheri L Deal - , University of Montreal (Autor:in)
  • Jaydira Del Rivero - , National Cancer Institute (Autor:in)
  • Quan-Yang Duh - , UCSF Medical Center at Mount Zion (Autor:in)
  • Graeme Eisenhofer - , Institut für Klinische Chemie und Laboratoriumsmedizin, Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus Dresden (Autor:in)
  • Tito Fojo - , Columbia University Irving Medical Center (CUIMC) (Autor:in)
  • Hans K Ghayee - , University of Florida (Autor:in)
  • Anne-Paule Gimenez-Roqueplo - , Université Paris Cité (Autor:in)
  • Antony J Gill - , University of Sydney (Autor:in)
  • Rodney Hicks - , St. Vincent's Hospital Melbourne (Autor:in)
  • Alessio Imperiale - , Université de Strasbourg (Autor:in)
  • Abhishek Jha - , National Institutes of Health (NIH) (Autor:in)
  • Michiel N Kerstens - , University Medical Center Groningen (Autor:in)
  • Ronald R de Krijger - , Universitätsklinikum Utrecht (Autor:in)
  • André Lacroix - , Centre de recherche du Centre hospitalier de l'Université de Montréal (CRCHUM) (Autor:in)
  • Ivica Lazurova - , University Hospital Olomouc (Autor:in)
  • Frank I Lin - , National Cancer Institute (Autor:in)
  • Charlotte Lussey-Lepoutre - , Université Paris Cité (Autor:in)
  • Eamonn R Maher - , University of Cambridge (Autor:in)
  • Ozgur Mete - , University of Toronto (Autor:in)
  • Mitsuhide Naruse - , National Hospital Organization Kyoto Medical Center (Autor:in)
  • Naris Nilubol - , National Cancer Institute (Autor:in)
  • Mercedes Robledo - , Hereditary Endocrine Cancer Group. Spanish National Cancer Research Center (CNIO) (Autor:in)
  • Frédéric Sebag - , Aix-Marseille Université (Autor:in)
  • Nalini S Shah - , Seth GS Medical College and KEM Hospital (Autor:in)
  • Akiyo Tanabe - , National Center for Global Health and Medicine (Autor:in)
  • Geoffrey B Thompson - , Division of Endocrine Surgery (Autor:in)
  • Henri J L M Timmers - , Radboud University Medical Center (Autor:in)
  • Jiri Widimsky - , Allgemeine Fakultätskrankenhaus Prag (Autor:in)
  • William J Young - , Medizinische Klinik und Poliklinik 3 (Autor:in)
  • Leah Meuter - , Stanford Medicine (Autor:in)
  • Jacques W M Lenders - , Radboud University Medical Center (Autor:in)
  • Karel Pacak - , National Institutes of Health (NIH) (Autor:in)

Abstract

Adult and paediatric patients with pathogenic variants in the gene encoding succinate dehydrogenase (SDH) subunit B (SDHB) often have locally aggressive, recurrent or metastatic phaeochromocytomas and paragangliomas (PPGLs). Furthermore, SDHB PPGLs have the highest rates of disease-specific morbidity and mortality compared with other hereditary PPGLs. PPGLs with SDHB pathogenic variants are often less differentiated and do not produce substantial amounts of catecholamines (in some patients, they produce only dopamine) compared with other hereditary subtypes, which enables these tumours to grow subclinically for a long time. In addition, SDHB pathogenic variants support tumour growth through high levels of the oncometabolite succinate and other mechanisms related to cancer initiation and progression. As a result, pseudohypoxia and upregulation of genes related to the hypoxia signalling pathway occur, promoting the growth, migration, invasiveness and metastasis of cancer cells. These factors, along with a high rate of metastasis, support early surgical intervention and total resection of PPGLs, regardless of the tumour size. The treatment of metastases is challenging and relies on either local or systemic therapies, or sometimes both. This Consensus statement should help guide clinicians in the diagnosis and management of patients with SDHB PPGLs.

Details

OriginalspracheEnglisch
Seiten (von - bis)168-184
Seitenumfang17
FachzeitschriftNature reviews. Endocrinology
Jahrgang20
Ausgabenummer3
Frühes Online-Datum14 Dez. 2023
PublikationsstatusVeröffentlicht - März 2024
Peer-Review-StatusJa

Externe IDs

Scopus 85180214116
Mendeley 35a850f2-b9ed-3a9f-9148-c6f10a7dea22

Schlagworte

Ziele für nachhaltige Entwicklung

Schlagwörter

  • Paraganglioma/genetics, Adrenal Gland Neoplasms/genetics, Humans, Succinate Dehydrogenase/genetics, Adult, Germ-Line Mutation/genetics, Pheochromocytoma/genetics, Child

Bibliotheksschlagworte