A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation
复制标题
DOI：
10.1007/s10689-012-9593-8
复制
发表时间：
2013-09-01
期刊：
影响因子：
2.2
通讯作者：
Gille, Johan J. P.
中科院分区：
文献类型：
--
作者：
Menko, Fred H.;Johannesma, Paul C.;Gille, Johan J. P.
Birt-Hogg-Dub综合征(BHD)是一种常染色体显性遗传性疾病，由卵泡蛋白基因突变引起，以皮肤纤维毛囊瘤、肺囊肿、气胸和肾癌为特征。我们在一位表现为自发性气胸的患者中发现了一种新的FLCN突变，c.499C>；T(p.Gln167X)。随后，诊断出典型的皮肤特征和无症状的肾癌。可能，从头开始的FLCN突变是罕见的。然而，如果有一个或多个综合征特征的散发性患者不考虑BHD，他们可能会被低估。对肾脏肿瘤的遗传学和免疫组织化学分析表明，这些特征与Flcn的肿瘤抑制作用相一致。突变的Flcn在肿瘤中表达的发现可能表明突变的Flcn的残留功能，这一概念将在未来的研究中探索。
Birt-Hogg-Dub, syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novo FLCN mutation, c.499C > T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.