Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA)

被引：63

作者：

Chahal, Harvinder S. ^{[1
]}

Chapple, J. Paul ^{[1
]}

Frohman, Lawrence A. ^{[2
]}

Grossman, Ashley B. ^{[1
]}

Korbonits, Marta ^{[1
]}

机构：

[1] Queen Mary Univ London, Dept Endocrinol, Barts & London Sch Med, London EC1M 6BQ, England

[2] Univ Illinois, Sect Endocrinol Metab & Diabet, Chicago, IL USA

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2010年 / 21卷 / 07期

基金：

英国医学研究理事会;

关键词：

ARYL-HYDROCARBON-RECEPTOR; INTERACTING-PROTEIN GENE; X-ASSOCIATED PROTEIN-2; HEAT-SHOCK-PROTEIN; CO-CHAPERONE XAP2; AH RECEPTOR; CELL-CYCLE; ENDOCRINE NEOPLASIA; DIOXIN RECEPTOR; AIP GENE;

D O I：

10.1016/j.tem.2010.02.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial pituitary adenomas can occur in MEN1 and Carney complex, as well as in the recently characterized familial isolated pituitary adenoma (FIPA) syndrome. FIPA is an autosomal dominant disease with incomplete penetrance, characterized by early-onset disease, often aggressive tumor growth and a predominance of somatotroph and lactotroph adenomas. In 20% of FIPA families, heterozygous mutations have been described in the aryl hydrocarbon receptor interacting (AIP) gene, whereas in other families the causative gene(s) are unknown. It has been suggested that AIP is a tumor suppressor gene and although experimental data support this hypothesis, the exact molecular mechanism by which its disruption leads to tumorigenesis is unclear. Here we discuss the clinical, genetic and molecular features of patients with FIPA.

引用

页码：419 / 427

页数：9

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