Clinical and genetic aspects of familial isolated pituitary adenomas
Clinics
;
67(supl.1): 37-41, 2012. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-623129
ABSTRACT
Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Neoplasias Hipofisárias
/
Adenoma
/
Neoplasia Endócrina Múltipla Tipo 1
/
Peptídeos e Proteínas de Sinalização Intracelular
/
Mutação
Tipo de estudo:
Estudo prognóstico
/
Fatores de risco
/
Revisões Sistemáticas Avaliadas
Limite:
Humanos
Idioma:
Inglês
Revista:
Clinics
Assunto da revista:
Medicina
Ano de publicação:
2012
Tipo de documento:
Artigo
País de afiliação:
Bélgica
/
Brasil
/
Bulgária
Instituição/País de afiliação:
Medical University, Sofia/BG
/
University of Brasilia/BR
/
University of Liège/BE
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