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 18 Fluoro-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.
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 pheochromocytomapatients, 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 18 Fluoro-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.
Authors: Carsten Christof Boedeker; Hartmut P H Neumann; Christian Offergeld; Wolfgang Maier; Maurizio Falcioni; Ansgar Berlis; Joerg Schipper Journal: Skull Base Date: 2009-01
Authors: Giorgio Treglia; Fabrizio Cocciolillo; Chiara de Waure; Francesco Di Nardo; Maria Rosaria Gualano; Paola Castaldi; Vittoria Rufini; Alessandro Giordano Journal: Eur J Nucl Med Mol Imaging Date: 2012-02-23 Impact factor: 9.236