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首页> 外文期刊>Case Reports in Genetics >Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene
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Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene

机译：由FLCL基因的新型突变引起的Birt-Hogg-Dubé综合征

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Background. Birt-Hogg-Dubé syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and bilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon. This case presents a young female presenting with only cystic lung disease and kidney tumors, identified as having a never before identified heterozygous mutation in the folliculin (FLCN) gene which is the likely cause of her syndrome. Case Presentation. A 34-year-old female was found to have bilateral renal masses, 2.4 cm on the right and 7.6 cm on the left, as well as multiple, small cysts in the lungs. Chest imaging further characterized the lung cysts as being basilar predominant with the largest measuring 1.6cm. The left kidney mass was resected with a partial nephrectomy with final pathologic diagnosis of an oncocytoma. Genetic testing was undertaken as she did not have characteristic skin findings. A previously undescribed mutation in the FLCN gene (c.780-2A>G) was identified with no matches in the human genetic mutation database (HGMD). Review of that database identified over 160 separate mutations in the FLCN gene. Extensive history did not identify any family members who had similar disease processes suggesting that this could be a spontaneous mutation in the proband. Conclusions. This case highlights that the traditional view of Birt-Hogg-Dubé syndrome as having a strong familial component may be incorrect and that spontaneous mutation may be more common than previously thought. Also notable is the fact that this patient had no characteristically described fibrofolliculomas that traditionally are the hallmark of the condition. This case suggests that genetic testing should be obtained in all suspected cases of Birt-Hogg-Dubé syndrome as the patient may not present with the typical skin findings and may also present with no family history consistent with this disorder.
机译：背景。 Birt-Hogg-Dubé综合征是一种遗传性疾病，其特征是皮肤纤维滤泡瘤，囊性肺部疾病和双侧肾肿瘤。它也与其他器官特别是甲状腺和结肠的肿瘤形成有关。该病例介绍了一位年轻女性，仅表现为囊性肺部疾病和肾脏肿瘤，被鉴定为从未发现过卵泡素（FLCN）基因杂合突变，这可能是她的综合征的病因。案例介绍。一名34岁的女性被发现有双侧肾脏肿块，右侧有2.4 cm，左侧有7.6 cm，并且在肺部有多个小囊肿。胸部成像进一步将肺囊肿定性为基底囊肿，最大的为1.6cm。通过部分肾切除术切除左肾肿块，最终病理诊断为肿瘤细胞瘤。由于她没有特征性的皮肤发现，因此进行了基因测试。在人类基因突变数据库（HGMD）中，没有发现FLCN基因先前未描述的突变（c.780-2A> G）。对该数据库的审查确定了FLCN基因中160多个独立的突变。广泛的历史未发现任何具有相似疾病过程的家庭成员，这表明这可能是先证者的自发突变。结论。该病例突出表明，传统的Birt-Hogg-Dubé综合征具有强烈的家族成分的观点可能是错误的，并且自发突变可能比以前认为的更为普遍。同样值得注意的是，该患者没有特征性描述的纤维滤泡瘤，传统上是该疾病的标志。该病例表明，在所有疑似Birt-Hogg-Dubé综合征的病例中均应进行基因检测，因为该患者可能没有典型的皮肤表现，也可能没有与此病相符的家族史。

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