Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene.
prolactinoma agressivo na infância relacionado à mutaçào no gene da proteina ARYL hidrocarbona (AIP)

The objective of this study was to describe a familial screening for AIP mutations in the context of aggressive prolactinoma in childhood. A 12-year-oldboy, presented headaches and bilateral hemianopsia. He had adequate height andweight for his age (50(th) percentile), Tanner stage G1 P1. His bone age was 10years. Prolactin was 10.560 ng/mL (3-25), FSH and LH were undetectable, IGF-1,TSH, Free T4, ACTH, and cortisol were within normal ranges. MRI showed apituitary macroadenoma, 5.3 X 4.0 X 3.5 cm with compression of the optic chiasm, bilateral cavernous sinus invasion, encasement of carotids, and extension toclivus. Surgical debulking was performed. Resistance to cabergoline wascharacterized and he was submitted to two surgeries and radiotherapy.Immunohistochemical evaluation included prolactin, ACTH, GH, FSH, LH,AIP, c-erbB2, Ki-67, and p53. Genomic DNA was isolated from the index case and 48relatives, PCR and sequencing were performed.A germline A195V mutation in AIP wasidentified in the index case and in five asymptomatic relatives. Germlinemutations in the AIP gene may be involved in the predisposition to pituitaryadenoma formation, as cause or co-factor in pathogenesis of aggressive tumors in young patients.