Searchable abstracts of presentations at key conferences in endocrinology

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 head┬ľneck 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...