Mutations AIP chez les jeunes patients en dessous de 30 ans avec adénome hypophysaire agressif

in Annales d'Endocrinologie (2010, September), 71(5), 397

Genetics of Cushing's Syndrome

in Neuroendocrinology (2010), 92((supp. 1)), 6-10

Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often ... [more ▼]

Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often due to ectopic ACTH-secreting neuroendocrine neoplasms or ACTH-independent adrenal cortisol hypersecretion. CS is a serious chronic disease leading to a several-fold increase in cardiovascular morbidity and mortality. Multiple genetic alterations have been described in the setting of sporadic corticotropinoma formation. Changes in the expression profiles have been demonstrated in growth factors and their receptors, cell-cycle regulators and in various genes related to hormonal gene transcription, synthesis and secretion. Sporadic adrenal adenomas and carcinomas may demonstrate dysfunction in genes such as TP53 among others. Cushing's disease can be an inherited condition also. Multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenomas (FIPA) together account for 5% of pituitary adenomas. Cushing's disease occurs infrequently in an inherited setting in both of these conditions. To date only 2 cases of Cushing's disease have been described in association with mutations in AIP. One case of Cushing's disease has been reported as part of MEN4, a rare MEN1-like syndrome due to mutation in the CDKN1B gene. Carney complex (CNC) due to PRKAR1A mutations in most cases is associated with CS, mainly as a cause of bilateral adrenal hyperplasia. The cAMP signaling pathway is affected in this setting. In recent times the involvement of genes such as PDE11A, PDE8B and others have expanded the spectrum of the genetic pathophysiology of CS. [less ▲]

Caractéristiques cliniques et réponses thérapeutiques des patients avec adénome hypophysaire mutés pour AIP : étude internationale sur 96 cas

in Annales d'Endocrinologie (2010, September), 71(5), 346

Etude de la séquence hyperplasie-adénome dans la tumorigenèse de l'hypophyse : rôle des mutations du gène

in Annales d'Endocrinologie (2010, September), 71(5), 411

Caractérisation des facteurs associés à la perte d'expression de AIP dans les adénomes hypophysaires somatotropes

in Annales d'Endocrinologie (2010, September), 71(5), 406

Mutations AIP chez les jeunes patients en-dessous de 30 ans avec adénome hypophysaire agressif

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

Recherche de la mutation du gène CDKN1B dans les adénomes hypophysaires familiaux isolés (FIPA): analyse de 86 familles

in Annales d'Endocrinologie (2010, September), 71(5), 398

Hyperplasia of Intermediate Lobe may be related to mutation in the Aryl Hydrocarbon Protein Gene in a Context of Familial Isolated Pituitary Adenoma (FIPA)

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)

Hyperplasia-adenoma sequence in pituitary: role of AIP gene

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)

Factors associated with AIP expression in somatotropinomas and the possible influence of somatostatin analogues

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)