[AIP mutations in familial and sporadic pituitary adenomas: local experience and review of the literature].

Abstract

Clinically relevant pituitary adenomas occur 3-5 times more frequently than previously thought. The majority are isolated cases, but their presentation can be familial in the setting of known syndromes such as multiple endocrine neoplasia (MEN)-1 and Carney complex. When 2 or more cases of pituitary adenomas occur in the same family in the absence of the above-mentioned syndromes, a diagnosis of FIPA (familial isolated pituitary adenomas) is made, which accounts for 1-2% of all pituitary adenomas. Mutations of the gene AIP (aryl hydrocarbon receptor-interacting protein) may account for 15% of FIPA families (50% of familial acromegaly), and as such the genetic causes continue to be studied. Also mutations in AIP can be detected in sporadic adenomas among young populations (< 30 years of age). We describe the characteristics of FIPA, detailing the study of a spanish family, in this case AIP mutation negative. Also, the reported findings in sporadic adenomas in the young population are detailed, accompanied by the description of a 19- year old patient with an intronic AIP mutation. Multicenter studies have provided understanding of aspects such as mutations in AIP; however, further studies are necessary to identify other genes involved in FIPA and sporadic pituitary adenomas occurring at a young age.

• Authors: Carmen Fajardo-Montañana, Adrian F Daly, Pedro Riesgo-Suárez, José Gómez-Vela, María A Tichomirowa, Rosa Camara-Gómez, Albert Beckers
• Journal: Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion (Endocrinol Nutr) 2009 Aug-Sep Vol. 56 Issue 7 Pg. 369-77 ISSN: 1575-0922 [Print] Spain
• Vernacular Title: Mutaciones de AIP en adenomas hipofisarios familiares y esporádicos: experiencia local y revisión de la literatura.
• PMID: 19883897 (Publication Type: Case Reports, English Abstract, Journal Article, Review)

Chemical References

• Intracellular Signaling Peptides and Proteins
• aryl hydrocarbon receptor-interacting protein

Topics

• Adenoma (genetics)
• Female
• Humans
• Intracellular Signaling Peptides and Proteins (genetics)
• Middle Aged
• Mutation
• Pedigree
• Phenotype
• Pituitary Neoplasms (genetics)
• Young Adult