Observational studyGenetics in medicine : official journal of the American College of Medical Genetics2020
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Observational study in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1-5 and beyond.Endocrine oncology (Bristol, England) · 2026Review
- Characterization of metabolic and imaging profiles in the diagnosis of succinate dehydrogenase- related hereditary pheochromocytomas and paragangliomas.Urologic oncology · 2025Article
- SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.Endocrine-related cancer · 2024Review
- Molecular Genetics of Pheochromocytoma/Paraganglioma.Current opinion in endocrine and metabolic research · 2024Article
- Management of Pheochromocytomas and Paragangliomas.The Surgical clinics of North America · 2024Review
- Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.Nature reviews. Endocrinology · 2024Review
- Update on the genetics of paragangliomas.Endocrine-related cancer · 2023Review
- UK recommendations forJournal of medical genetics · 2023Article
- Long-term follow-up of patients undergoing laparoscopic surgery for phaeochromocytoma.BJS open · 2022Article
- Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.The Journal of clinical endocrinology and metabolism · 2022Article
- Overview of the 2022 WHO Classification of Neuroendocrine Neoplasms.Endocrine pathology · 2022Review
- Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.Endocrine connections · 2022Article
- Perioperative Management of Pheochromocytomas and Sympathetic Paragangliomas.Journal of the Endocrine Society · 2022Review
- A novel liquid biopsy (NETest) identifies paragangliomas and pheochromocytomas with high accuracy.Endocrine-related cancer · 2021Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
purposeMinimal data exist regarding the efficacy of screening protocols for individuals with SDHx germline pathogenic variants with hereditary paraganglioma-pheochromocytoma syndrome. This study aimed to evaluate the SDHx-related tumor detection rate in individuals undergoing clinical screening protocols.
methodsA multicenter retrospective longitudinal observational study was conducted. Individuals with germline SDHx pathogenic variants underwent clinical whole-body imaging and biochemical testing.
resultsTwo hundred sixty-three individuals with SDHx germline pathogenic variants completed 491 imaging screens. Individuals with SDHB germline pathogenic variants were most common (n = 188/263, 72%), followed by SDHD (n = 35/263, 13%) and SDHC (n = 28/263, 11%). SDHx-related tumors were found in 17% (n = 45/263) of the cohort. Most SDHx-related tumors were identified on baseline imaging screen (n = 39/46, 85%). Individuals with SDHD pathogenic variants had the highest tumor detection rate (n = 14/35, 40%). Of imaging screens identifying SDHx-related paraganglioma/pheochromocytoma, 29% (n = 12/41) had negative biochemical testing. Secondary actionable findings were identified in 15% (n = 75/491) of imaging screens.
conclusionCurrent SDHx screening protocols are effective at identifying SDHx-related tumors. Tumor detection rates vary by SDHx gene and screening has the potential to uncover actionable secondary findings. Imaging is an essential part of the screening process as biochemical testing alone does not detect all disease.
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