MP12-01 SYSTEMATIC GENETIC SCREENING IN A PROSPECTIVE GROUP OF DANISH PATIENTS WITH PHEOCHROMOCYTOMA

Abstract

You have accessJournal of UrologyAdrenal1 Apr 2016MP12-01 SYSTEMATIC GENETIC SCREENING IN A PROSPECTIVE GROUP OF DANISH PATIENTS WITH PHEOCHROMOCYTOMA Morten Steen Svarer Hansen, Niels Jacobsen, Anja L Frederiksen, Lars Lund, Marianne S Andersen, and Dorte Glintborg Morten Steen Svarer HansenMorten Steen Svarer Hansen More articles by this author , Niels JacobsenNiels Jacobsen More articles by this author , Anja L FrederiksenAnja L Frederiksen More articles by this author , Lars LundLars Lund More articles by this author , Marianne S AndersenMarianne S Andersen More articles by this author , and Dorte GlintborgDorte Glintborg More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2016.02.2441AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Recent guidelines recommend consideration of genetic screening in all newly diagnosed patients with pheochromocytoma. We wanted to evaluate results of systematic genetic screening in patients newly diagnosed with pheochromocytoma. METHODS All patients diagnosed with pheochromocytoma in the Region of Southern Denmark during 2006-2013 without previously recognized monogenetic aetiology were offered genetic screening for mutations in the genes von Hippel-Lindau tumor suppressor gene (VHL), rearranged during transfection protooncegene (RET), succinate dehydrogenase complex, subunit B (SDHB), SDH subunit C (SDHC) and SDH subunit D (SDHD). Systematic clinical and biochemical evaluation were performed in all patients. RESULTS Forty-one patients were included in the study and genetic data were available in 35/41 patients. Four patients had known monogenetic aetiology prior to the diagnosis of pheochromocytoma (VHL, n=2, neurofibromatosis type 1, n=2). These patients were all younger than 45 years of age at time of diagnosis of pheochromocytoma (ages: 12, 33, 34 and 43 years), 2/4 patients had bilateral tumors and one patient had positive family history of pheochromocytoma. Genetic screening did not identify any mutations in patients with sporadic pheochromocytoma (n=31). Patients with sporadic pheochromocytoma had a median age of 58 years (range 33-80 years), 3/31 patients had bilateral tumors, one patient had multiple tumors and no patients had positive family history of pheochromocytoma. Twenty-four (68.6%) patients were diagnosed with pheochromocytoma due to evaluation of adrenal incidentaloma. CONCLUSIONS Monogenetic aetiology was found in 4/35 (11.4 %) patients with pheochromocytoma. Systematic genetic screening did not identify additional mutations in patients newly diagnosed with pheochromocytoma. © 2016FiguresReferencesRelatedDetails Volume 195Issue 4SApril 2016Page: e125 Advertisement Copyright & Permissions© 2016MetricsAuthor Information Morten Steen Svarer Hansen More articles by this author Niels Jacobsen More articles by this author Anja L Frederiksen More articles by this author Lars Lund More articles by this author Marianne S Andersen More articles by this author Dorte Glintborg More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...