ArticleJournal of cancer research and clinical oncology2017
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Article in Journal of cancer research and clinical oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Metastatic Disease in Phaeochromocytomas and Paragangliomas in Various Genotypes-A Systematic Review and Meta-analysis.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Outcomes of SDHB Pathogenic Variant Carriers.The Journal of clinical endocrinology and metabolism · 2024Pooled it
- Article
- 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
- Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.Endocrine connections · 2025Article
- Rare Pretracheal Paraganglioma Treated With Presurgical Embolization Followed by Surgical Resection.Annals of thoracic surgery short reports · 2025Article
- Metastatic Malignant Paraganglioma of Rare Sites Failed on Conventional Treatments Demonstrating Beneficial Response toWorld journal of nuclear medicine · 2025Article
- Late Onset Malignant Metastatic Transformation of Benign Pheochromocytoma.Journal of community hospital internal medicine perspectives · 2025Article
- A Rare Case of a Middle Mediastinal Mass With Intense and Diffuse Contrast Enhancement.Cureus · 2024Article
- Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.Journal of the Endocrine Society · 2024Article
- Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.Nature reviews. Endocrinology · 2024Review
- Case report: A novel somaticFrontiers in endocrinology · 2024Article
- Retroperitoneal Paraganglioma Treated With Tumor Resection and Replacement of the Inferior Vena Cava.Cureus · 2023Article
- Novel and recurrent genetic variants ofFrontiers in genetics · 2023Article
- An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germlineFrontiers in endocrinology · 2023Article
- Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?Endocrine oncology (Bristol, England) · 2023Article
- SDHB reduction promotes oral lichen planus by impairing mitochondrial respiratory function.Annals of translational medicine · 2022Article
- Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.The Journal of clinical endocrinology and metabolism · 2022Article
- Personalized Management of Pheochromocytoma and Paraganglioma.Endocrine reviews · 2022Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeSuccinate dehydrogenase subunit B (SDHB) gene mutations are associated with an aggressive clinical disease course of pheochromocytoma/paraganglioma (PHEO/PGL). Limited information is available concerning PHEO/PGL penetrance among SDHB mutation carriers with regards to primary tumor location, specific mutation type, and gender. We assessed PHEO/PGL penetrance in SDHB mutation carriers and described the clinical presentation and disease course.
methodsAsymptomatic relatives (N = 611) of 103 index patients were tested for SDHB mutations. Mutation carriers (N = 328) were offered PHEO/PGL screening, of which 241 participated and were included in penetrance analysis. For additional disease outcome analysis, the 103 index patients and 40 screened individuals who developed PHEO/PGL were included. Clinical data were collected between October 2004 and June 2016.
resultsForty (16.60%) of the 241 screened individuals developed PHEO/PGL during the study. The penetrance estimate in this population was 49.80% (95% CI 29-74.9) at 85 years. A significantly higher age-related penetrance of disease was observed in males compared to females, with 50% penetrance achieved at age 74 vs. not reached. Age-related penetrance analysis demonstrated 4 mutations (Ile127Ser, IVS1+1G>T, Exon 1 deletion, Arg90X) presenting with a slower rate of disease development (50% penetrance ages, respectively: not achieved, 70, 63, 61 years) compared to Arg46X and Val140Phe mutations (50% penetrance at 38 years).
conclusionsHere, we found a higher estimated penetrance compared to several other studies, and a striking difference in age-related penetrance between male and female SDHB mutation carriers with no association between mutation and gender or tumor location.
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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.