Aryl hydrocarbon receptor interacting protein gene (AIP) mutations are rare in patients with hormone secreting or non-secreting pituitary adenomas.
OBJECTIVE
Recent data suggest that mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) are associated with pituitary adenomas. AIP is considered to be a tumour suppressor gene.


METHODS
110 Caucasian patients living in Germany with pituitary adenoma (55 hormone secreting, 55 non-functioning) were examined for AIP mutations.


RESULTS
Three patients (2.7%) harboured an AIP germline mutation. A heterozygous mutation, R16H (c.47G>A), was found in two patients and a heterozygous G>C change in the 3'UTR, 60 bp downstream of the termination codon, in one patient. All three patients suffered from non-functioning adenoma. Additionally, a silent polymorphism, D172D (c.516C>T), was found in 3 patients with non-functioning adenoma, in 2 patients with prolactinoma and in one patient with acromegaly.


CONCLUSIONS
AIP mutations are rare in sporadic pituitary adenomas in the German population and occur independently from a hormone secretion of the adenoma.
Buchbinder
S
S
University of Heidelberg, Department of Internal Medicine, Endocrinology, Metabolism and Clinical Chemistry Heidelberg, Germany.
Bierhaus
A
A
Zorn
M
M
Nawroth
P P
PP
Humpert
P
P
Schilling
T
T
D000236:Adenoma / Q000235:genetics* / Q000378:metabolism*; D000328:Adult; D017668:Age of Onset; D000368:Aged; D019943:Amino Acid Substitution; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010907:Pituitary Hormones / Q000378:metabolism; D010911:Pituitary Neoplasms / Q000235:genetics* / Q000378:metabolism*
D047908:Intracellular Signaling Peptides and Proteins; D010907:Pituitary Hormones; C103265:aryl hydrocarbon receptor-interacting protein