Prolactinoma agressivo na infância relacionado à mutação no gene da proteína ARYL hidrocarbono (AIP)

Translated title of the contribution: Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene

Luciana Ansaneli Naves, Marie Lise Jaffrain-Rea, Sergio Alberto Cunha Vêncio, Clausmir Zaneti Jacomini, Luiz Augusto Casulari, Adrian F. Daly, Albert Beckers

Research output: Contribution to journalArticle

Abstract

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-old boy, presented headaches and bilateral hemianopsia. He had adequate height and weight for his age (50th percentile), Tanner stage G1 P1. His bone age was 10 years. 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 a pituitary 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 to clivus. Surgical debulking was performed. Resistance to cabergoline was characterized and he was submitted to two surgeries and radiotherapy. Immunohistochemical evaluation included prolactin, ACTH, GH, FSH, LH,AIP, c-erb B2, Ki-67, and p53. Genomic DNA was isolated from the index case and 48 relatives, PCR and sequencing were performed. A germline A195V mutation in AIP was identified in the index case and in five asymptomatic relatives. Germline mutations in the AIP gene may be involved in the predisposition to pituitary adenoma formation, as cause or co-factor in pathogenesis of aggressive tumors in young patients.

Original languagePortuguese
Pages (from-to)761-767
Number of pages7
JournalArquivos Brasileiros de Endocrinologia e Metabologia
Volume54
Issue number8
DOIs
Publication statusPublished - Nov 2010

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Receptor-Interacting Protein Serine-Threonine Kinases
Prolactinoma
Germ-Line Mutation
Hydrocarbons
Prolactin
Adrenocorticotropic Hormone
Posterior Cranial Fossa
Hemianopsia
Optic Chiasm
Cavernous Sinus
Pituitary Neoplasms
Insulin-Like Growth Factor I
Genes
Headache
Hydrocortisone
Reference Values
Radiotherapy
Weights and Measures
Bone and Bones
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

Cite this

Naves, L. A., Jaffrain-Rea, M. L., Vêncio, S. A. C., Jacomini, C. Z., Casulari, L. A., Daly, A. F., & Beckers, A. (2010). Prolactinoma agressivo na infância relacionado à mutação no gene da proteína ARYL hidrocarbono (AIP). Arquivos Brasileiros de Endocrinologia e Metabologia, 54(8), 761-767. https://doi.org/10.1590/S0004-27302010000800017

Prolactinoma agressivo na infância relacionado à mutação no gene da proteína ARYL hidrocarbono (AIP). / Naves, Luciana Ansaneli; Jaffrain-Rea, Marie Lise; Vêncio, Sergio Alberto Cunha; Jacomini, Clausmir Zaneti; Casulari, Luiz Augusto; Daly, Adrian F.; Beckers, Albert.

In: Arquivos Brasileiros de Endocrinologia e Metabologia, Vol. 54, No. 8, 11.2010, p. 761-767.

Research output: Contribution to journalArticle

Naves, Luciana Ansaneli ; Jaffrain-Rea, Marie Lise ; Vêncio, Sergio Alberto Cunha ; Jacomini, Clausmir Zaneti ; Casulari, Luiz Augusto ; Daly, Adrian F. ; Beckers, Albert. / Prolactinoma agressivo na infância relacionado à mutação no gene da proteína ARYL hidrocarbono (AIP). In: Arquivos Brasileiros de Endocrinologia e Metabologia. 2010 ; Vol. 54, No. 8. pp. 761-767.
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