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Článek online

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

Taïeb, David
Autor Taïeb, David Department of Nuclear Medicine, Aix-Marseille University, La Timone University Hospital, Marseille, France
Nölting, Svenja
Autor Nölting, Svenja Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich and University of Zurich, Zurich, Switzerland Department of Medicine IV, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany
Perrier, Nancy D
Autor Perrier, Nancy D Department of Surgical Oncology, MD Anderson Cancer Center, Houston, TX, USA
Fassnacht, Martin
Autor Fassnacht, Martin ORCID Department of Medicine, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, Würzburg, Germany
Carrasquillo, Jorge A
Autor Carrasquillo, Jorge A ORCID Molecular Imaging and Therapy Service, Radiology Department, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Grossman, Ashley B
Autor Grossman, Ashley B ORCID Green Templeton College, University of Oxford, Oxford, UK NET Unit, Royal Free Hospital, London, UK
Clifton-Bligh, Roderick
Autor Clifton-Bligh, Roderick ORCID Department of Endocrinology, Royal North Shore Hospital and Cancer Genetics Laboratory, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia
Wanna, George B
Autor Wanna, George B Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Schwam, Zachary G
Autor Schwam, Zachary G Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Amar, Laurence
Autor Amar, Laurence ORCID Université Paris Cité, Inserm, PARCC, Equipe Labellisée par la Ligue contre le Cancer, Paris, France Hypertension Unit, Hôpital Européen Georges Pompidou, Assistance Publique - Hôpitaux de Paris, Paris, France

Nature reviews. Endocrinology. 2024 ; 20 (3) : 168-184. [pub] 20231214

Nat Rev Endocrinol
ISSN 1759-5037
Medvik
Zdroj

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.