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Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
D. Taïeb, GB. Wanna, M. Ahmad, C. Lussey-Lepoutre, ND. Perrier, S. Nölting, L. Amar, HJLM. Timmers, ZG. Schwam, AL. Estrera, M. Lim, EL. Pollom, L. Vitzthum, I. Bourdeau, RT. Casey, F. Castinetti, R. Clifton-Bligh, EPM. Corssmit, RR. de Krijger,...
Language English Country England, Great Britain
Document type Journal Article, Review, Research Support, N.I.H., Intramural
Grant support
P30 CA008748
NCI NIH HHS - United States
ZIA HD008735
Intramural NIH HHS - United States
- MeSH
- Pheochromocytoma * diagnosis genetics therapy MeSH
- Humans MeSH
- Adrenal Gland Neoplasms * diagnosis genetics therapy MeSH
- Paraganglioma * diagnosis genetics therapy MeSH
- Practice Guidelines as Topic MeSH
- Succinate Dehydrogenase genetics MeSH
- Germ-Line Mutation genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Research Support, N.I.H., Intramural MeSH
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.
Cancer Genetics Laboratory Kolling Institute University of Sydney Sydney NSW Australia
Department of Endocrinology Aix Marseille University Conception University Hospital Marseille France
Department of Endocrinology Royal North Shore Hospital Sydney NSW Australia
Department of Endocrinology University Medical Center Groningen Groningen Netherlands
Department of Internal Medicine Radboud University Medical Center Nijmegen Netherlands
Department of Laboratory Medicine and Pathobiology University of Toronto Toronto ON Canada
Department of Neurosurgery Stanford University School of Medicine Palo Alto CA USA
Department of Neurosurgical Surgery Rutgers New Jersey Medical School Newark NJ USA
Department of Nuclear Medicine Pitié Salpêtrière Hospital Sorbonne University Paris France
Department of Otorhinolaryngology Leiden University Medical Centre Leiden Netherlands
Department of Pathology University Medical Center Utrecht Utrecht Netherlands
Department of Physician Assistant Studies Stanford University School of Medicine Palo Alto CA USA
Department of Radiation Oncology Stanford University School of Medicine Palo Alto CA USA
Department of Surgical Oncology MD Anderson Cancer Center Houston TX USA
Endocrine Pathology Society Toronto ON Canada
Green Templeton College University of Oxford Oxford UK
INSERM U1251 Aix Marseille University Conception University Hospital Marseille France
Medical Center and Endocrine Center Ijinkai Takeda General Hospital Kyoto Japan
NET Unit Royal Free Hospital London UK
Princess Máxima Center for Pediatric Oncology Utrecht Netherlands
Surgical Oncology Program National Cancer Institute National Institutes of Health Bethesda MD USA
Université Paris Cité Inserm PARCC Equipe Labellisée par la Ligue contre le Cancer Paris France
References provided by Crossref.org
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- $a Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants / $c D. Taïeb, GB. Wanna, M. Ahmad, C. Lussey-Lepoutre, ND. Perrier, S. Nölting, L. Amar, HJLM. Timmers, ZG. Schwam, AL. Estrera, M. Lim, EL. Pollom, L. Vitzthum, I. Bourdeau, RT. Casey, F. Castinetti, R. Clifton-Bligh, EPM. Corssmit, RR. de Krijger, J. Del Rivero, G. Eisenhofer, HK. Ghayee, AP. Gimenez-Roqueplo, A. Grossman, A. Imperiale, JC. Jansen, A. Jha, MN. Kerstens, HPM. Kunst, JK. Liu, ER. Maher, D. Marchioni, LB. Mercado-Asis, O. Mete, M. Naruse, N. Nilubol, N. Pandit-Taskar, F. Sebag, A. Tanabe, J. Widimsky, L. Meuter, JWM. Lenders, K. Pacak
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- $a 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.
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