World Journal of Endocrine Surgery

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VOLUME 2 , ISSUE 3 ( September-December, 2010 ) > List of Articles

CASE REPORT

Novel Germline SDHB Mutation in a 35-Year-Old Male with Malignant Bladder Paraganglioma

Dina M Elaraj, Cord Sturgeon, Michael B Heller, Grazia Aleppo

Citation Information : Elaraj DM, Sturgeon C, Heller MB, Aleppo G. Novel Germline SDHB Mutation in a 35-Year-Old Male with Malignant Bladder Paraganglioma. World J Endoc Surg 2010; 2 (3):135-138.

DOI: 10.5005/jp-journals-10002-1038

Published Online: 01-12-2010

Copyright Statement:  Copyright © 2010; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

Objective

Up to 25% of pheochromocytomas and paragangliomas (PGL) are associated with germline mutations in RET, VHL, NF1, and subunits A, B, C, or D of succinate dehydrogenase (SDH). SDHB mutations are associated with malignant extra-adrenal PGL. Codon specific genotype-phenotype relationships have not been identified. Herein is described a case of malignant bladder paraganglioma from a novel W200R SDHB mutation. The literature is reviewed and clinical management is discussed.

Methods

Literature review was performed to analyze the relationship between SDHB and PGL, yielding 45 unique articles, which were reviewed and cross-referenced.

Results

SDHB mutations have a 50% penetrance by age 35, 1/3 of paragangliomas are multifocal, 31 to 48% are malignant, and 50 to 70% of these malignant PGL develop metastases.

Conclusion

Based on the aggressive nature of the SDHB mutation, we recommend preoperative staging, an aggressive treatment regimen, and intensive screening for recurrence.


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  1. Diagnosis and treatment of pheochromocytoma in urinary bladder. J Zhejiang Univ Sci B 2007;8:435-435.
  2. Paraganglioma of the urinary bladder. Neth J Med 2008;66: 163-163.
  3. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 2005;23:8812-8812.
  4. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 2009;94:2817-2817.
  5. Germline mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002;346:1459-1459.
  6. High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: Implications for genetic testing. J Clin Endocrinol Metab 2006;91:4505-4505.
  7. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 2007;92:3822-3822.
  8. Clinical presentations, biochemical phenotypes, and genotype phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 2007;92:779-779.
  9. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004;292:943-943.
  10. Clinical manifestations of familial paraganglioma and pheochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clin Endocrinol (Oxf) 2008;69:587-587.
  11. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2006;91:827-827.
  12. Mediastinal paragangliomas: Association with mutations in the succinate dehydrogenase genes and aggressive behavior. Endocr Relat Cancer 2009;16:291-291.
  13. Novel succinatedehydrogenase subunit B (SDHB) mutations in familial pheochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic pheochromocytomas. Oncogene 2003;22:1358-1358.
  14. Hereditary pheochromocytomas and paragangliomas: A study of five susceptibility genes. J Med Genet 2003;40:e75.
  15. Mutations in the SDHB gene are associated with extra-adrenal and malignant pheochromocytomas. Cancer Res 2003;63:5615-5615.
  16. Familial paraganglioma: A novel presentation of a case and response to therapy with radiolabelled MIBG. Hormones (Athens) 2004;3: 127-127.
  17. The SDH mutation database: An online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 2005;6:39.
  18. SDHB mutation analysis in familial and sporadic pheochromocytoma identifies a novel mutation. J Med Genet 2002;39:E64.
  19. Malignant head and neck paragangliomas in SDHB mutation carriers. Otolaryngol Head Neck Surg 2007;137:126-29.
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