Genetics: AIP mutations in young patients with sporadic pituitary macroadenoma.

摘要

Screening for ATP mutations in patients <30 years of age with sporadic pituitary macroadenoma could improve clinical management of this population, according to results of a study published in the European Journal of Endocrinology.Mutations in the AIP gene, which encodes the aryl hydrocarbon receptor interacting protein, are frequent in patients with familial isolated pituitary adenomas (FIPA) but have also been reported in patients with other pituitary adenoma subtypes. Tumors arising from AIP mutations are large (macroadenomas) and occur at a young age.To evaluate the use of focused genetic screening, Tichomirowa et al. studied 163 patients with sporadic pituitary macroadenoma (>10mm maximal diameter on MRI) diagnosed when patients were aged <30 years. Other genetic causes or FIPA had been excluded.