ArticleJournal of medical genetics2002
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers.
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Who cites it
109 citing papers in PubMed, 341 citations in OpenAlex.
- The value of a rapid contrast-enhanced angio-MRI protocol in the detection of head and neck paragangliomas in SDHx mutations carriers: a retrospective study on behalf of the PGL.EVA investigators.European radiology · 2016Trial
- Germline predisposition in multiple myeloma.iScience · 2025Article
- Multiple primary tumors in a patient with non‑small‑cell lung cancer harboring mutations inOncology letters · 2025Article
- Thyroid Paraganglioma: A Rare Manifestation of Paraganglioma Syndrome Associated With Pathogenic Variant inJCEM case reports · 2024Article
- Comprehensive Investigation of Angiogenesis, PASS Score and Immunohistochemical Factors in Risk Assessment of Malignancy for Paraganglioma and Pheochromocytoma.Diagnostics (Basel, Switzerland) · 2024Article
- The Management of Phaeochromocytomas and Paragangliomas in the Era of Precision Medicine: Where Are We Now? Evidence-Based Systemic Treatment Options and Future Cluster Oriented Perspectives.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Hypoxia-inducible factor in cancer: from pathway regulation to therapeutic opportunity.BMJ oncology · 2024Review
- Multi-Disciplinary Approach to Skull Base Paragangliomas.Brain sciences · 2023Article
- Pyruvate transamination and NAD biosynthesis enable proliferation of succinate dehydrogenase-deficient cells by supporting aerobic glycolysis.Cell death & disease · 2023Article
- Paraganglioma of the Head and Neck: A Review.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2023Review
- The impact of RNA binding proteins and the associated long non-coding RNAs in the TCA cycle on cancer pathogenesis.RNA biology · 2023Review
- Giant carotid chemodectoma treated with a combination of surgery and CyberKnife radiotherapy: a case report and review of the literature.Journal of medical case reports · 2022Review
- Application of the shear wave elastography in the assessment of carotid body tumors: A preliminary study.Frontiers in oncology · 2022Article
- Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management.Biomedicines · 2021Article
- From Diagnosis to Therapy-PET Imaging for Pheochromocytomas and Paragangliomas.Current urology reports · 2021Review
- Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency.Frontiers in endocrinology · 2021Review
- The LncRNA FEZF1-AS1 promotes tumor proliferation in colon cancer by regulating the mitochondrial protein PCK2.Oncology research · 2021Article
- Glutamine Metabolism in Cancer.Advances in experimental medicine and biology · 2021Article
- Mutation profiling in eight cases of vagal paragangliomas.BMC medical genomics · 2020Article
- Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.Journal of cancer research and clinical oncology · 2020Article
49 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundParagangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL).
methodsWe assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA.
resultsFifty-five subjects were grouped into 10 families and 37 non-familial cases. Five of the non-familial cases had multiple tumours. Germline SDHD mutations were identified in five of 10 (50%) familial and two of 37 ( approximately 5%) non-familial cases. R38X, P81L, H102L, Q109X, and L128fsX134 mutations were identified in the familial cases and P81L was identified in the non-familial cases. Both non-familial cases had multiple tumours. P81L and R38X mutations have previously been reported in other PGL families and P81L was suggested as a founder mutation. Allelic analyses of different chromosomes carrying these mutations did not show common disease haplotypes, strongly suggesting that R38X and P81L are potentially recurrent mutations. Germline SDHB mutations were identified in two of 10 (20%) familial and one of 33 ( approximately 3%) non-familial cases. P131R and M71fsX80 were identified in the familial cases and Q59X was identified in the one non-familial case. The non-familial case had a solitary tumour. No mutations could be identified in the SDHC gene in the remaining four families and 20 sporadic cases.
conclusionsMutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and approximately 8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.
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