title: Overview of genetic testing in patients with pituitary adenomas.
abstract: Clinically-relevant pituitary adenomas occur with a prevalence of one case per 1000-1300 of the general population. Although most are sporadic, there are several inherited conditions that incur an increased risk of developing a pituitary adenoma. Multiple endocrine neoplasia type 1 and Carney complex (due to mutations in MEN1 and PRKAR1A, respectively) are established pituitary adenoma predisposition conditions, while multiple endocrine neoplasia type 4 (due to CDKN1B mutations) is an emerging rare condition. Familial isolated pituitary adenomas (FIPA) is a novel condition not associated with these multiple endocrine neoplasias. Mutations in the aryl hydrocarbon receptor interacting protein gene account for about 15% of FIPA kindreds and are associated with about 10-20% of macroadenomas that occur in children, adolescents and young adults. When treating a pituitary adenoma patient, relevant familial and clinical factors such as associated tumors or syndromic features should be assessed at the outset in order to guide the correct choice of genetic testing in appropriate individuals.
authors.affiliation: Service d'endocrinologie, centre hospitalier universitaire de Liège, université de Liège, domaine universitaire du Sart-Tilman, Belgium. albert.beckers@chu.ulg.ac.be
authors.forename: Albert
authors.initials: A
authors.lastname: Beckers
authors.forename: Liliya
authors.initials: L
authors.lastname: Rostomyan
authors.forename: Adrian F
authors.initials: AF
authors.lastname: Daly
mesh_terms: D000236:Adenoma / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005820:Genetic Testing / Q000379:methods* / Q000639:trends; D006801:Humans; D010911:Pituitary Neoplasms / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult