Familial Isolated Pituitary Adenomas: From Genetics to Therapy

被引：14

作者：

Guaraldi, Federica ^{[1
]}

Salvatori, Roberto ^{[2
]}

机构：

[1] Johns Hopkins Sch Med, Dept Pathol, Baltimore, MD 21218 USA

[2] Johns Hopkins Sch Med, Dept Med, Div Endocrinol, Baltimore, MD USA

来源：

CTS-CLINICAL AND TRANSLATIONAL SCIENCE | 2011年 / 4卷 / 01期

关键词：

pituitary adenomas; familial isolated pituitary adenomas; AIP gene; ARYL-HYDROCARBON-RECEPTOR; INTERACTING-PROTEIN GENE; MULTIPLE ENDOCRINE NEOPLASIA; CLINICAL-FEATURES; CHROMOSOME; 11Q13; YOUNG-PATIENTS; AIP MUTATIONS; TYPE-1; MEN1; AH-RECEPTOR; EXPRESSION;

D O I：

10.1111/j.1752-8062.2010.00254.x

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

According to autopsy and radiological data, pituitary adenomas (PAs) develop in approximately 15% to 20% of the population. The great majority of PAs arise sporadically and affect adults. Rarely they are diagnosed in children and adolescents. Approximately 5% of cases are thought to be familial. Inherited conditions associated with pituitary tumors include multiple endocrine neoplasia type 1 (MEN-1) and type 4 (MEN-4), (CNC) Carney Complex, and familial isolated PA (FIPA) syndrome. FIPA is an autosomal dominant condition, defined by the presence of two or more patients affected by PAs in the same kindred, and no other associated condition. Germline mutations of the aryl hydrocarbon receptor interacting protein gene located on chromosome 11q13 have been reported in 15%-40% of FIPA cases. In the remaining cases, genetic defect are unidentified. This article focuses on FIPA clinical, pathological, genetic features, and therapeutic management. Clin Trans Sci 2011; Volume 4: 55-62

引用

页码：55 / 62

页数：8

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