ArticleEuropean journal of human genetics : EJHG2013
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands.Journal of neurological surgery. Part B, Skull base · 2025Article
- Proteomic characterization of head and neck paraganglioma and its molecular classification.Frontiers in molecular neuroscience · 2024Article
- Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.Endocrine connections · 2022Article
- High throughput proteomic and metabolic profiling identified target correction of metabolic abnormalities as a novel therapeutic approach in head and neck paraganglioma.Translational oncology · 2021Article
- Article
- International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.Nature reviews. Endocrinology · 2021Review
- Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management.Biomedicines · 2021Article
- Natural History and Management of Familial Paraganglioma Syndrome Type 1: Long-Term Data from a Large Family.Journal of clinical medicine · 2020Article
- Article
- A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.Neoplasma · 2019Review
- Mathematical Models for Tumor Growth and the Reduction of Overtreatment.Journal of neurological surgery. Part B, Skull base · 2019Article
- Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.European journal of human genetics : EJHG · 2018Article
- Age and Tumor Volume Predict Growth of Carotid and Vagal Body Paragangliomas.Journal of neurological surgery. Part B, Skull base · 2017Article
- Radiological Surveillance Screening in Asymptomatic Succinate Dehydrogenase Mutation Carriers.Journal of the Endocrine Society · 2017Review
- Genetic and epigenetic patterns in patients with the head-and-neck paragangliomas associate with differential clinical characteristics.Journal of cancer research and clinical oncology · 2017Article
- Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.The Clinical biochemist. Reviews · 2017Review
- Current approaches and recent developments in the management of head and neck paragangliomas.Endocrine reviews · 2014Review
- Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.Familial cancer · 2014Observational
- A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary paraganglioma is a benign tumor syndrome with an age-dependent penetrance. Carriers of germline mutations in the SDHB or SDHD genes may develop parasympathetic paragangliomas in the head and neck region or sympathetic catecholamine-secreting abdominal and thoracic paragangliomas (pheochromocytomas). In this study, we aimed to establish paraganglioma risk in 101 asymptomatic germline mutation carriers and evaluate the results of our surveillance regimen. Asymptomatic carriers of an SDHD or SDHB mutation were included once disease status was established by MRI diagnosis. Clinical surveillance revealed a head and neck paraganglioma in 28 of the 47 (59.6%) asymptomatic SDHD mutation carriers. Risk of tumor development was significantly lower in SDHB mutation carriers: 2/17 (11.8%, P=0.001). Sympathetic paragangliomas were encountered in two SDHD mutation carriers and in one SDHB mutation carrier. In conclusion, asymptomatic carriers of an SDHD mutation are at a high risk for occult parasympathetic paraganglioma. SDHB carrier risk is considerably lower, consistent with lower penetrance of SDHB mutations. For both syndromes, the risk of symptomless sympathetic paragangliomas is small.
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