title: Phaeochromocytoma, new genes and screening strategies.
abstract: Following recent advances in the genetics of phaeochromocytomas and paragangliomas, the members of the European Network for the Study of Adrenal Tumours (ENS@T) Phaeochromocytoma Working Group have decided to share their genotyping data and to propose European recommendations for phaeochromocytoma/functional paraganglioma (PH/FPGL) genetic testing. Germline DNA from 642 patients was analysed by ENS@T teams. In 166 patients (25.9%) the disease was familial and caused by germline mutations in VHL (56), SDHB (34), SDHD (31), RET (31) or NF1 (14), causing von Hippel-Lindau disease, SDHB- or SDHD-PH/FPGL syndromes, multiple endocrine neoplasia type 2 (MEN 2) and type 1 neurofibromatosis (NF1), respectively. In almost 60% of inherited cases it was possible to formulate a probable genetic diagnosis based on family history and/or typical syndromic presentation. Genetic testing revealed mutations in 12.7% of cases with an apparently sporadic presentation. Several clinical characteristics, such as young age at onset, the presence of bilateral, extra-adrenal or multiple tumours or a malignant tumour, should be seen as indications for genetic testing. The ENS@T Phaeochromocytoma Working Group recommends the genetic testing of all patients with PH and FPGL and suggests a practice algorithm for the management of their exploration.
authors.affiliation: Department of Genetics, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, France. anne.paule.gimenez-roqueplo@egp.aphp.fr
authors.forename: Anne-Paule
authors.initials: AP
authors.lastname: Gimenez-Roqueplo
authors.forename: Hendrik
authors.initials: H
authors.lastname: Lehnert
authors.forename: Massimo
authors.initials: M
authors.lastname: Mannelli
authors.forename: Hartmut
authors.initials: H
authors.lastname: Neumann
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Opocher
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.forename: Pierre-François
authors.initials: PF
authors.lastname: Plouin
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*; D000465:Algorithms; D052138:Genes, Neoplasm; D005819:Genetic Markers; D005820:Genetic Testing; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics; D018579:Patient Selection; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005819:Genetic Markers