Genetic, molecular and clinical features of familial isolated pituitary adenomas.
Pituitary adenomas occur in a familial setting in about 5% of all cases, and over half of these are due to multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC). Non-MEN1/CNC familial pituitary tumours of all tumour phenotypes, known as familial isolated pituitary adenomas (FIPA), were first described in the late 1990s. Clinical features of FIPA differ from those of sporadic pituitary adenomas, as patients with FIPA have a younger age at diagnosis and larger tumours. About 15% of patients with FIPA have mutations in the aryl hydrocarbon receptor-interacting protein gene (AIP), which indicates that FIPA may have a diverse genetic pathophysiology. This article describes the clinical features of FIPA, the tumour pathologies found in this setting and the genetic/molecular data that have recently been reported in FIPA.
Daly
Adrian F
AF
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Tichomirowa
Maria A
MA
Beckers
Albert
A
D000818:Animals; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism; D010911:Pituitary Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism
D047908:Intracellular Signaling Peptides and Proteins; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; C103265:aryl hydrocarbon receptor-interacting protein