Adenoma/genetics; Female; Humans; Intracellular Signaling Peptides and Proteins/genetics; Middle Aged; Mutation; Pedigree; Phenotype; Pituitary Neoplasms/genetics; Young Adult
Résumé :
[en] 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. [es] Los adenomas hipofisarios clínicamente relevantes son 3-5 veces más frecuentes de lo que inicialmente se pensaba. La mayoría son casos esporádicos, pero su presentación puede ser familiar dentro de síndromes conocidos: neoplasia endocrina múltiple (MEN) 1 y complejo de Carney. Cuando se expresan dos o más casos en la misma familia en ausencia de los síndromes anteriores, hablamos de adenomas hipofisarios familiares aislados (familial isolated pituitary adenomas [FIPA]), que suponen un 1-2% de todos los adenomas hipofisarios. Las mutaciones del gen AIP (aryl hydrocarbon receptor-interacting protein) pueden justificar el 15% de las familias con FIPA (el 50% de acromegalia familiar), pero su base genética continúa en estudio. Además, estas mutaciones de AIP se detectan en adenomas aislados en población joven (< 30 años). Se describen las características descritas en los FIPA detallando el estudio de una familia española, en este caso AIP negativa. También se detallan los hallazgos descritos en adenomas esporádicos en población joven con la presentación de una paciente de 19 años acromegálica con mutación de AIP intrónica. Los estudios multicéntricos han permitido conocer aspectos como las mutaciones de AIP, pero continúan siendo necesarios para conocer otros genes involucrados en los FIPA y los adenomas esporádicos que se presentan en edades tempranas.
Disciplines :
Endocrinologie, métabolisme & nutrition
Auteur, co-auteur :
Fajardo-Montanana, C.
Daly, Adrian ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Riesgo-Suarez, P.
Gomez-Vela, J.
Tichomirowa, M. A.
Camara-Gomez, R.
Beckers, Albert ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Langue du document :
Espagnol
Titre :
Mutaciones de AIP en adenomas hipofisarios familiares y esporadicos: experiencia local y revision de la literatura.
Titre traduit :
[en] AIP mutations in familial and sporadic pituitary adenomas: local experience and review of the literature
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