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ea0032p67 | Adrenal Medulla | ECE2013

Succinate dehydrogenase subunit B mutations modify human neuroblastoma cell metabolism and proliferation

Zampetti Benedetta , Rapizzi Elena , Ercolino Tonino , Fucci Rossella , Felici Roberta , Guasti Daniele , Giache Valentino , Bani Daniele , Chiarugi Alberto , Mannelli Massimo

Paragangliomas (PGLs) are rare neuroendocrine tumors. About 3040% of these tumors are mutated in different susceptibility genes, including those encoding the different subunits of the succinate dehydrogenase, a complex involved both in the tricarboxylic acid cycle and in the oxygen transport chain. The aim of this project was to investigate whether SDHB mutations may account for alterations in cell metabolism and functions. Since PGL cell lines are not available, we used...

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ea0026p361 | Adrenal medulla | ECE2011

Head and neck paragangliomas: genetic spectrum and clinical variability in 101 consecutive patients

Piccini Valentina , Rapizzi Elena , Bacca Alessandra , Di Trapani Giuseppe , Pulli Raffaele , Giache Valentino , Zampetti Benedetta , Canu Letizia , Faggiano Antongiulio , Deiana Luca , Mariotti Stefano , Ambrosio Maria Rosaria , Zatelli Maria Chiara , Parenti Gabriele , Colao Annamaria , Pratesi Carlo , Bernini Gianpaolo , Ercolino Tonino , Mannelli Massimo

Purpose: To genotype patients with headneck paragangliomas (HNPGL) and evaluate the percentage and types of germ-line mutations in patients classified according to family history (FH) and clinical presentation.Design: In total, 101 consecutive patients with HNPGL were examined for mutations in SDHB, SDHC, SDHD. SDHAF2 and VHL genes by PCR/sequencing.According to a careful FH, clinical, laboratory (including meta...

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Endocrine Abstracts

Succinate dehydrogenase subunit B mutations modify human neuroblastoma cell metabolism and proliferation

Head and neck paragangliomas: genetic spectrum and clinical variability in 101 consecutive patients

BiosciAbstracts