Authors: Catrin Lloyd Ashley Grossman
Publish Date: 2013/12/24
Volume: 46, Issue: 3, Pages: 387-396
Abstract
Pituitary adenomas are monoclonal neoplasms that may secrete excessive quantities of their endogenous hormones or may not be associated with any obvious syndrome in which case they are known as nonfunctioning pituitary adenomas Around 2 have been said to occur in a familial setting in the absence of any other tumor now described as familial isolated pituitary adenomas FIPA Some 15–30 of such families harbor inactivating germline mutations in the aryl hydrocarbon receptorinteracting protein AIP gene along with 20 of pediatric seemingly sporadic cases AIP mutants are referred to as having pituitary adenoma predisposition and present with early onset aggressive macroadenomas most of which secrete somatotropin Evidence from transfection studies implies that AIP acts as a tumor suppressor although whether this is mediated through an interaction with the aryl hydrocarbon receptor phosphodiesterases or with cell cycle regulators such as survivin or RET remains controversial However at present an interaction with the cyclic AMP pathway seems most plausible Recently evidence has shown that AIP may act at the cell surface causing changes in integrin function The presence of AIP mutations in a significant proportion of FIPA families as well as in apparently sporadic cases particularly in young patients suggests a need to screen such patients for AIP mutations to enable better clinical management However the absence of AIP mutations in over half of such cases highlights the need to search for further gene mutations
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