Clinical and genetic aspects of familial isolated pituitary adenomas
AUTOR(ES)
Vasilev, Vladimir, Daly, Adrian, Naves, Luciana, Zacharieva, Sabina, Beckers, Albert
FONTE
Clinics
DATA DE PUBLICAÇÃO
2012
RESUMO
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.
Documentos Relacionados
- Pituitary adenomas: clinical, surgical, immunohistochemical aspects, invasive and proliferative cellular nuclear antigen (PCNA) relationship
- Study of major genetic factors involved in pituitary tumorigenesis and their impact on clinical and biological characteristics of sporadic somatotropinomas and non-functioning pituitary adenomas
- Pituitary Hyperfunction: Physiopathology and Clinical Aspects
- Genetic aspects of familial osteoarthritis.
- Pituitary Adenomas