Carmen Fajardo Montañana

TL;DR: Prisposition for aggressive disease in young patients, often in a familial setting, suggests that earlier diagnosis of AIPmut pituitary adenomas may have clinical utility.

TL;DR: AIP mutations, of which nine new mutations have been described here, occur in approximately 15% of FIPA families, and although pituitary tumors occurring in association with AIP mutations are predominantly somatotropinomas, other tumor types are also seen.

TL;DR: Germline AIPmut occur in 11.7% of patients <30 years with sporadic pituitary macroadenomas and in 20.5% of pediatric patients, and aIPmut mutation testing in this population should be considered in order to optimize clinical genetic investigation and management.

TL;DR: Two patients had germline sequence changes in CDKN1B, which led to functional alterations in the encoded p27 proteins in vitro, but their low incidence and lack of clear segregation with affected patients make CD KN1B sequencing unlikely to be of use in routine genetic investigation of FIPA kindreds.