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Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview

1
Department of Endocrinology, Hospital Universitario Donostia, 20014 Donostia, Euskadi, Spain
2
Department of Endocrinology, Centre Hospitalaire Universitaire de Liège, Liège Université, 4000 Liège, Belgium
*
Authors to whom correspondence should be addressed.
Ismene Bilbao Garay and Adrian F. Daly contributed equally.
J. Clin. Med. 2020, 9(6), 2003; https://doi.org/10.3390/jcm9062003
Received: 10 June 2020 / Revised: 23 June 2020 / Accepted: 24 June 2020 / Published: 26 June 2020
Clinically-relevant pituitary adenomas occur in about 1:1000 of the general population, but only about 5% occur in a known genetic or familial setting. Familial isolated pituitary adenomas (FIPA) are one of the most important inherited settings for pituitary adenomas and the most frequent genetic cause is a germline mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene. AIP mutations lead to young-onset macroadenomas that are difficult to treat. Most are growth hormone secreting tumors, but all other secretory types can exist and the clinical profile of affected patients is variable. We present an overview of the current understanding of AIP mutation-related pituitary disease and illustrate various key clinical factors using examples from one of the largest AIP mutation-positive FIPA families identified to date, in which six mutation-affected members with pituitary disease have been diagnosed. We highlight various clinically significant features of FIPA and AIP mutations, including issues related to patients with acromegaly, prolactinoma, apoplexy and non-functioning pituitary adenomas. The challenges faced by these AIP mutation-positive patients due to their disease and the long-term outcomes in older patients are discussed. Similarly, the pitfalls encountered due to incomplete penetrance of pituitary adenomas in AIP-mutated kindreds are discussed. View Full-Text
Keywords: Familial isolated pituitary adenoma; AIP; GPR101; acromegaly; prolactinoma; pituitary apoplexy; genetics Familial isolated pituitary adenoma; AIP; GPR101; acromegaly; prolactinoma; pituitary apoplexy; genetics
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Bilbao Garay, I.; Daly, A.F.; Egaña Zunzunegi, N.; Beckers, A. Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview. J. Clin. Med. 2020, 9, 2003.

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