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Submitted on February 23, 2006
Accepted on August 3, 2006
Section on Medical Neuroendocrinology, Reproductive Biology and Medicine Branch, National Institute of Child Health and Human Development, Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA and Division of Molecular Diagnostics, Departments of Pathology and Human Genetics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
* To whom correspondence should be addressed. E-mail: karel{at}mail.nih.gov.
Context: Adrenal and extra-adrenal paragangliomas are tumors of chromaffin cells that are usually benign, but which may also develop into malignant disease. Mutations of the gene for succinate dehydrogenase subunit B (SDHB) are associated with a high risk of malignancy, but establishing the precise contribution requires relatively large numbers of patients with well-defined malignancy.
Objective: We assessed the prevalence of SDHB mutations in a series of patients with malignant paraganglioma.
Design: SDHB mutation testing was carried out in 44 consecutive patients with malignant paraganglioma. Clinical characteristics of patients with malignant disease due to SDHB mutations were compared with those without mutations.
Results: Pathogenic SDHB mutations were found in 13 of the 44 (30%) patients. Close to a third of patients had metastases originating from an adrenal primary tumor compared with a little over two-thirds from an extra-adrenal tumor. Among the latter patients, the frequency of SDHB mutations was 48%.
Conclusion: This study establishes that missense, nonsense, frameshift and splice site mutations of the SDHB gene are associated with about one half of all malignancies originating from extra-adrenal paragangliomas. The high frequency of SDHB germline mutations among patients with malignant disease, particularly when originating from an extra-adrenal paraganglioma, may justify a high priority for SDHB germline mutation testing in these patients.
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