ArticleAnnals of surgical oncology2013
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.
Article in Annals of surgical oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 3 of them syntheses that pooled it.
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Who cites it
116 citing papers in PubMed, 3 syntheses or guidelines pooled it, 230 citations in OpenAlex.
- Clinical characteristics and prognosis ofJournal of medical genetics · 2026Pooled it
- What should we focus on in pregnancy complicated by pheochromocytoma? a bibliometric analysis (1990-2024).Frontiers in oncology · 2025Pooled it
- Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature.The lancet. Diabetes & endocrinology · 2021Pooled it
- The utility of genetic testing for pheochromocytoma and paraganglioma.Proceedings (Baylor University. Medical Center) · 2026Article
- Treatment Outcomes of Radiation Therapy of Paragangliomas of the Head and Neck at a Single Institution.International journal of particle therapy · 2026Article
- Rates of Hereditary Paraganglioma Syndromes and Secretory Head and Neck Paragangliomas: A Single-Institution Experience.Journal of neurological surgery. Part B, Skull base · 2026Article
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- Whole-Blood Expression of Candidate Genes Linked with Pheochromocytoma in Post-Surgery Patients: A Pilot Study.Biomedicines · 2026Article
- Tumor risks and surveillance outcomes inEndocrine oncology (Bristol, England) · 2026Article
- Sellar and parasellar paraganglioma mimicking pituitary macroadenoma in a young female: A rare case report.International journal of surgery case reports · 2025Article
- Right Ventricular Paraganglioma Mimicking Coronary Artery Aneurysm: A Diagnostic Conundrum.JACC. Case reports · 2025Article
- Incidental Adrenal Mass in a Patient With a Known History of Neurofibromatosis: A Case Report.Cureus · 2025Article
- Prognostic markers in pheochromocytomas/paragangliomas: the role of histopathology, SDHB, MAML3 and MCM6 expression.Journal of endocrinological investigation · 2025Article
- Genetic Testing Referral Rates for Pheochromocytoma and Paraganglioma in an Academic Tertiary Centre.Clinical endocrinology · 2025Article
- Hypercortisolism Due to Paraganglioma Secreting Adrenocorticotropin and Catecholamines.JCEM case reports · 2025Article
- Clinical, genetic, radiological characteristics and management of mediastinal paragangliomas: a literature review and case series.Endocrine-related cancer · 2025Review
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- Composite Pheochromocytoma-Paraganglioma With Ganglioneuroma: A Dual-Center Clinical Experience.Journal of the Endocrine Society · 2025Article
56 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundPheochromocytomas (PCC) and paragangliomas (PGL) are neuroendocrine tumors that, although rare, are an important cause of secondary hypertension because of the high morbidity and mortality. PCC/PGL are still thought of as the "tumor of tens," with 10 % being hereditary; however, recent population based studies suggest that up to 32 % of patients have a germline mutation in one of the known common susceptibility genes (including NF1, VHL, RET, SDHB, SDHD, and SDHC). Despite this, most patients in the United States are not referred for clinical genetic testing by their physicians. We aimed to examine the mutation prevalence in a clinic-based population in the United States.
methodsWe performed a retrospective chart review of 139 consecutive patients with PCC/PGL from the medical genetics clinic at the hospital of the University of Pennsylvania from January 2004 through February 2012.
resultsWe found a 41 % overall mutation detection rate. Twenty-six percent of the cohort had a mutation in the SDHB or SDHD genes. Of patients with at least one PGL tumor outside the adrenal gland, 53 % had an identified mutation.
conclusionsForty-one percent of the cohort had a heritable mutation. The most commonly mutated gene was SDHB, which carries the highest risk of malignancy. These data, together with American Society of Clinical Oncology guidelines suggesting that genetic testing be performed if the risk of a hereditable mutation is at least 10 % or if it will affect medical management, strongly suggest that all patients with PCC/PGL should undergo clinical genetic testing.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.