ArticlePituitary2012
Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor.
Article in Pituitary, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Risk of intracranial meningioma in patients with acromegaly: a systematic review.Frontiers in endocrinology · 2024Pooled it
- Clinical and Genetic Spectrum of Large AIP Deletions.Human mutation · 2026Article
- Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.European journal of endocrinology · 2025Article
- Coexisting sellar Rathke cleft cyst and planum sphenoidale meningioma: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Coexistence of meningioma and other intracranial benign tumors in non-neurofibromatosis type 2 patients: A case report and review of literature.World journal of clinical cases · 2022Article
- Pituitary Disease inJournal of clinical medicine · 2020Article
- New insights into the genomic landscape of meningiomas identified FGFR3 in a subset of patients with favorable prognoses.Oncotarget · 2019Article
- Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child.The Journal of clinical endocrinology and metabolism · 2019Article
- Phosphodiesterases and cAMP Pathway in Pituitary Diseases.Frontiers in endocrinology · 2019Review
- Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in anInternational journal of endocrinology · 2018Article
- A novel C-terminal nonsense mutation, Q315X, of the aryl hydrocarbon receptor-interacting protein gene in a Japanese familial isolated pituitary adenoma family.Endocrine pathology · 2014Article
- Association of craniopharyngioma and pituitary adenoma.Endocrine · 2013Review
- Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.Endocrine reviews · 2013Review
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Authors and funding
9 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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