title: A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.
abstract: The identification of 9 susceptibility genes for paraganglioma/pheochromocytoma between 2001 and 2010 has led to the development of routine genetic tests. To study the evolution in genetic screening for paraganglioma/pheochromocytoma over the past decade, we carried out a retrospective study on the tests performed in our laboratory from January 2001 to December 2010. A genetic test for paraganglioma/pheochromocytoma was assessed for 2 499 subjects, 1 620 index cases, and 879 presymptomatic familial genetic tests. A germline mutation in a PGL/PCC susceptibility gene was identified in 363 index cases (22.4%): 269 in SDHx genes (137 in SDHB, 100 in SDHD, 30 in SDHC, 2 in SDHA), 64 in VHL, 23 in RET, and 7 in TMEM127. A presymptomatic paraganglioma/pheochromocytoma test was positive in 427 subjects. Advances in molecular screening techniques led to an increase in the total number of mutation-carriers diagnosed each year. Overall, during the last decade, our laboratory identified a germline mutation in 44.7% of patients with a suspect hereditary PGL/PCC and in 8% of patients with an apparently sporadic PGL/PCC. During the past decade, the discoveries of new paraganglioma/pheochromocytoma susceptibility genes and the subsequent progress of molecular screening techniques have enabled us to diagnose a hereditary paraganglioma/pheochromocytoma in about 22% of patients tested in routine practice. This genetic testing is of major importance for the follow-up of affected patients and for the genetic counselling of their families.
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, 20 rue Leblanc, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Buffet
authors.forename: A
authors.initials: A
authors.lastname: Venisse
authors.forename: V
authors.initials: V
authors.lastname: Nau
authors.forename: I
authors.initials: I
authors.lastname: Roncellin
authors.forename: V
authors.initials: V
authors.lastname: Boccio
authors.forename: N
authors.initials: N
authors.lastname: Le Pottier
authors.forename: M
authors.initials: M
authors.lastname: Boussion
authors.forename: C
authors.initials: C
authors.lastname: Travers
authors.forename: C
authors.initials: C
authors.lastname: Simian
authors.forename: N
authors.initials: N
authors.lastname: Burnichon
authors.forename: N
authors.initials: N
authors.lastname: Abermil
authors.forename: J
authors.initials: J
authors.lastname: Favier
authors.forename: X
authors.initials: X
authors.lastname: Jeunemaitre
authors.forename: A-P
authors.initials: AP
authors.lastname: Gimenez-Roqueplo
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000266:history; D049674:History, 21st Century; D006801:Humans; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics*; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor