ArticleThe Journal of clinical endocrinology and metabolism2022
Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.
Article in The Journal of clinical endocrinology and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025.Endocrine journal · 2026Guideline
- Comprehensive Genomic Analysis in Hereditary Adrenal and Extra-Adrenal Paragangliomas.Endocrine pathology · 2026Article
- Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.Langenbeck's archives of surgery · 2026Article
- Article
- Succinate dehydrogenase-deficient cancer cells have increased susceptibility to Ym155-induced DNA damage.Endocrine-related cancer · 2026Article
- Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry.Research square · 2026Article
- Clinical and Genetic Characteristics of Pheochromocytoma and Paraganglioma: A Single-Center Experience Including a Rare VHL Variant.Journal of clinical medicine · 2026Article
- Tumor risks and surveillance outcomes inEndocrine oncology (Bristol, England) · 2026Article
- Article
- Prognostic significance of Ki-67 in assessing the risk of progression, relapse or metastasis in pheochromocytomas and paragangliomas.Annals of medicine · 2025Article
- Update on Systemic Therapies for Metastatic/Unresectable Pheochromocytomas and Paragangliomas and Future Directions.Cancers · 2025Review
- Genetic Testing Referral Rates for Pheochromocytoma and Paraganglioma in an Academic Tertiary Centre.Clinical endocrinology · 2025Article
- Functional Suppression of a Prolactinoma by a Dopamine-Secreting Paraganglioma.JCEM case reports · 2025Article
- International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.Nature reviews. Endocrinology · 2024Review
- SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.Endocrine-related cancer · 2024Review
- Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.Diagnostics (Basel, Switzerland) · 2024Review
- Paragangliomas of the Head and Neck: A Review of the Latest Diagnostic and Treatment Methods.Medicina (Kaunas, Lithuania) · 2024Review
- Loss of tumor suppressor TMEM127 drives RET-mediated transformation through disrupted membrane dynamics.eLife · 2024Article
- Loss of Tumour Suppressor TMEM127 Drives RET-mediated Transformation Through Disrupted Membrane Dynamics.bioRxiv : the preprint server for biology · 2024Article
- Current prospects of hereditary adrenal tumors: towards better clinical management.Hereditary cancer in clinical practice · 2024Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundPractice guidelines to identify individuals with hereditary pheochromocytomas and paragangliomas (PPGLs) advocate for sequential gene testing strategy guided by specific clinical features and predate the routine use of multigene panel testing (MGPT).
objectiveTo describe results of MGPT for hereditary PPGL in a clinically and ancestrally diverse cohort.
settingCommercial laboratory based in the United States.
methodsClinical data and test results were retrospectively reviewed in 1727 individuals who had targeted MGPT from August 2013 through December 2019 because of a suspicion of hereditary PPGL.
resultsOverall, 27.5% of individuals had a pathogenic or likely pathogenic variant (PV), 9.0% had a variant of uncertain significance, and 63.1% had a negative result. Most PVs were identified in SDHB (40.4%), followed by SDHD (21.1%), SDHA (10.1%), VHL (7.8%), SDHC (6.7%), RET (3.7%), and MAX (3.6%). PVs in FH, MEN1, NF1, SDHAF2, and TMEM127 collectively accounted for 6.5% of PVs. Clinical predictors of a PV included extra-adrenal location, early age of onset, multiple tumors, and positive family history of PPGL. Individuals with extra-adrenal PGL and a positive family history were the most likely to have a PV (85.9%). Restricting genetic testing to SDHB/C/D misses one-third (32.8%) of individuals with PVs.
conclusionOur data demonstrate a high diagnostic yield in individuals with and without established risk factors, a low inconclusive result rate, and a substantial contribution to diagnostic yield from rare genes. These findings support universal testing of all individuals with PPGL and the use of concurrent MGPT as the ideal platform.
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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.