Familial isolated pituitary adenoma (FIPA), defined as the occurrence of at least two cases of
pituitary adenoma in a family that does not exhibit features of syndromic diseases, such as
Carney complex or
Multiple Endocrine Neoplasia type 1 or 4, is a rare autosomal dominant disease with low penetrance. About 20 % of the families with FIPA harbor inactivating mutation in
aryl hydrocarbon receptor-interacting protein gene (AIP) associated with loss of heterozygosity of the same genetic locus (11q13) in the
tumor. Rarely different types of extra-
pituitary tumors have been described in the setting of AIP mutation-positive FIPA. We present the case of a patient who was diagnosed with
acromegaly due to the AIP mutation c.241C>T (p.R81X) at the age of 34 years, and treated by transsphenoidal surgery. At the age of 43 years she was diagnosed with a
meningioma, and at age 46 had recurrence of the somatotropinoma. Genetic studies demonstrated loss of the normal allele (by sequencing and microsatellite analysis) in
DNA from the
pituitary adenoma but not from the
meningioma, suggesting a selective involvement of AIP mutation in the pathogenesis of the
pituitary adenoma, and a casual association with the
meningioma. Further investigations are required to define the exact role of AIP in non-pituitary
tumorigenesis.