[Familial pituitary adenomas].
Familial pituitary adenomas are found in multitumoral syndromes such as multiple endocrine neoplasia type 1 (NEM1) and type 4 (NEM4) and the Carney complex (CNC); it remains at present the only known condition in the category of familial isolated pituitary adenomas (FIPA). Familial adenomas account for 3-5% of all pituitary adenomas. Their pathogenesis is known in part: mutations of the menin gene in NEM1 (80%), of the CDKN1B gene in NEM4 (several cases described), of the PRKR1A gene in CNC (50%) and the AIP gene in 15% of FIPA cases (50% of the FIPA cases with a homogeneous somatotropic phenotype). The clinical course of familial adenoma with NEM1 or FIPA is more aggressive than that of sporadic adenoma, with more macroadenomas and more patients diagnosed younger. Familial pituitary adenomas are distinguished from the sporadic forms in their genetic, epidemiologic and clinical characteristics. They require a differentiated management, especially concerning screening.
Burlacu
Maria Cristina
MC
Service d'endocrinologie, CHU de Liège, Université de Liège, Domaine universitaire du Sart-Tilman, B-4000 Liège, Belgique.
Tichomirowa
Maria
M
Daly
Adrian
A
Beckers
Albert
A
D000236:Adenoma / Q000235:genetics*; D050760:Cyclin-Dependent Kinase Inhibitor p27; D049912:Growth Hormone-Secreting Pituitary Adenoma / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010911:Pituitary Neoplasms / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics
C436291:CDKN1B protein, human; D047908:Intracellular Signaling Peptides and Proteins; C105373:MEN1 protein, human; C104647:PRKRA protein, human; D011518:Proto-Oncogene Proteins; D016601:RNA-Binding Proteins; C103265:aryl hydrocarbon receptor-interacting protein; D050760:Cyclin-Dependent Kinase Inhibitor p27