Paragangliomas in patients with mutations of the SDHD gene

Abstract

OBJECTIVE: Paragangliomas represent neoplasms of neural crest origin that arise from paraganglia. Mutations in the gene encoding succinate dehydrogenase subunit D (SDHD) are responsible for a percentage of hereditary paragangliomas. We previously described a group of 271 pheochromocytoma patients, 11 of whom had mutations of the SDHD gene. The objective of this study was to find out whether those 11 patients had additional paragangliomas. STUDY DESIGN: Ten patients participated in our clinical screening program that included MRI of the skull base and neck, thorax, and abdomen, as well as an 18Fluoro-DOPA positron emission tomography (DOPA-PET). RESULTS: Five patients presented with head and neck paragangliomas, 1 patient with a thoracic paraganglioma, and 2 patients with intraabdominal paragangliomas. CONCLUSIONS: The screening for paragangliomas in patients with mutations of the SDHD gene offers the chance to diagnose those tumors in an early stage. SIGNIFICANCE: Because morbidity after surgical resection increases with tumor size, early surgery will minimize the potential risks.