【佳学基因检测】家族史在 Birt-Hogg-Dubé 综合征检测和管理中的相关性

基因变异引起的癫疯能医治吗介绍

综述肿瘤的正确化治疗及靶向药物选择《肿瘤靶向药物的敏感性及有效性》《Respiration》在. 2019;98(2):125-132.发表了一篇题目为《家族史在 Birt-Hogg-Dubé 综合征检测和管理中的相关性》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Elena Torricelli, Mariaelena Occhipinti, Edoardo Cavigli, Giorgia Tancredi, Elisabetta Rosi, Cesare Rossi, Michela Bonaguro, Luisa Candita, Laura Papi, Luca Novelli, Michela Bezzi, Elena Bargagli, Luca Voltolini, Massimo Pistolesi等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及正确治疗临床研究内容关键词：

纤维囊性肝病,肝体积测量,磁共振成像,生长抑素类似物, mTOR 抑制剂

肿瘤靶向治疗基因检测临床应用结果

基因解码基因检测的研究介绍：Birt-Hogg-Dubé 综合征 (BHDS) 是一种罕见的常染色体显性遗传疾病，其特征是滤泡蛋白 (FLCN) 基因失活、肺囊肿伴反复性自发性气胸、皮肤病灶以及发生肾恶性肿瘤的风险增加。 ：基因解码基因检测旨在调查有气胸家族史的患者中 BHDS 的真实患病率及其患病率。基因解码基因检测的研究方法：从 2014 年 7 月至 2016 年 12 月，基因解码基因检测连续研究了所有自发性气胸和相同情况的阳性家族史的患者，参考基因解码基因检测的机构。对可疑病例进行 BHDS 致病基因 FLCN 的遗传分析。 FLCN阳性病例进一步行血常规、胸片、胸部CT、腹部MRI及皮肤科评估。基因解码基因检测的研究结果：114例自发性气胸入院患者中，7例有气胸家族史，6/7（85.7 %) 患者以及 7/13 家庭成员的 FLCN 基因检测呈阳性。所有 FLCN 基因检测阳性的患者均发现肺囊肿。大多数患者（10/13，76.9%）有直径小于 1 cm 的微小肺囊肿。绝大多数囊肿位于实质内（12/13, 92.3%），位于下叶。 7/13（54%）患者发现皮肤病灶，4/13（31%）患者发现肾囊肿，1（1/13，7.7%）患者发现肾癌。基因解码基因检测的研究结论：虽然BHDS被认为是一种罕见病, BHDS 是自发性气胸的基础，比通常认为的更常见，尤其是当存在气胸家族史时。 BHDS 的诊断对于开始监测患者患肾恶性肿瘤的风险至关重要。关键词：Birt-Hogg-Dubé 综合征； CT检查;囊肿； FLCN蛋白；气胸;患病率；射线照相术；罕见病。

肿瘤发生与反复转移国际数据库描述：

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disorder characterized by inactivation of the gene Folliculin (FLCN), pulmonary cysts with recurrent spontaneous pneumothorax, dermatological lesions, and an increased risk of developing renal malignancies.Objectives: We aimed to investigate the real prevalence of BHDS and its prevalence among patients with a familial history of pneumothorax.Methods: From July 2014 to December 2016, we consecutively studied all patients with spontaneous pneumothorax and a positive family history for the same condition referring to our Institution. The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. FLCN-positive cases were further evaluated with routine blood tests, chest radiography, chest CT, abdominal MRI, and dermatological evaluation.Results: Among 114 patients admitted with spontaneous pneumothorax, 7 patients had a family history of pneumothorax, and 6/7 (85.7%) patients had positive genetic test for FLCN as well as 7/13 family members. Pulmonary cysts were found in all patients with a FLCN-positive genetic test. Most patients (10/13, 76.9%) had tiny pulmonary cysts less than 1 cm in diameter. The vast majority of cysts were intraparenchymal (12/13, 92.3%) and located in lower lobes. Dermatological lesions were found in 7/13 (54%) patients, renal cysts in 4/13 (31%) patients, and renal cancer in 1 (1/13, 7.7%) patient.Conclusions: Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies.Keywords: Birt-Hogg-Dubé syndrome; Computed tomography; Cysts; FLCN protein; Pneumothorax; Prevalence; Radiography; Rare diseases.