Clinical and genetic aspects of familial isolated pituitary adenomas.

Clinics
V VasilevAlbert Beckers

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 pat...Continue Reading

Citations

Feb 15, 2018·Journal of Medical Genetics·Francisca CaimariUNKNOWN International FIPA consortium
Apr 24, 2019·Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia·Agne SidaraiteLoresa Kriauciuniene
Nov 5, 2016·Pituitary·Lucio VilarLuciana A Naves
Dec 29, 2018·Somatosensory & Motor Research·Hafiz Khuram RazaGuiyun Cui

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BETA
nuclear translocation

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