title: Clinical and genetic aspects of familial isolated pituitary adenomas.
abstract: Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.
authors.affiliation: Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Belgium.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Vasilev
authors.forename: Adrian
authors.initials: A
authors.lastname: Daly
authors.forename: Luciana
authors.initials: L
authors.lastname: Naves
authors.forename: Sabina
authors.initials: S
authors.lastname: Zacharieva
authors.forename: Albert
authors.initials: A
authors.lastname: Beckers
mesh_terms: D000172:Acromegaly / Q000235:genetics; D000236:Adenoma / Q000235:genetics*; D005820:Genetic Testing; D049912:Growth Hormone-Secreting Pituitary Adenoma / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C103265:aryl hydrocarbon receptor-interacting protein