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[家族性孤立性垂体腺瘤(FIPA)的临床与遗传学特征]

[Clinical and genetic characterization of FIPA (familial isolated pituitary adenomas)].

作者信息

Beckers A, Apetrii P, Daly A, Tichomirova M, Vanbellingen J F, Georges M, Bours V

机构信息

Service d'Endocrinologie, CHU de Liège, Liège, Belgique.

出版信息

Rev Med Liege. 2009;64 Spec No:15-9.

Abstract

Pituitary adenomas are common brain tumours at autopsy and radiological series of unselected population. Historically, few epidemiologic data regarding the prevalence of clinically apparent pituitary adenomas have been available. Recently, a cross-sectional study conducted in Liège, Belgium, noted that clinically-apparent pituitary adenomas occurred with a prevalence of 1:1064 inhabitants, which is 3.5-5 times the previously reported prevalence. Pituitary adenomas occur predominantly as sporadic tumors, but also in a familial setting or associated to some familial/isolated tumoral syndromes. The recent characterization of the novel clinical entity FIPA (Familial Isolated Pituitary Adenomas) increased the prevalence of familial pituitary adenomas which account now for about 5% of pituitary tumors. Distinct genetic mechanisms are continuously identified and increase our understanding of the complex clinical presentation and sometimes unpredictable evolution of pituitary adenomas.

摘要

垂体腺瘤是尸检和未选择人群的放射学系列中常见的脑肿瘤。从历史上看,关于临床明显垂体腺瘤患病率的流行病学数据很少。最近,在比利时列日进行的一项横断面研究指出,临床明显的垂体腺瘤患病率为每1064名居民中有1例,这是先前报道患病率的3.5至5倍。垂体腺瘤主要以散发性肿瘤形式出现,但也存在于家族性背景中或与某些家族性/孤立性肿瘤综合征相关。新型临床实体FIPA(家族性孤立性垂体腺瘤)的最新特征增加了家族性垂体腺瘤的患病率,目前家族性垂体腺瘤约占垂体肿瘤的5%。不同的遗传机制不断被发现,这增进了我们对垂体腺瘤复杂临床表现以及有时不可预测的病程演变的理解。

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