Cancer gene mutations in congenital pulmonary airway malformation patients
Cancer gene mutations in congenital pulmonary airway malformation patients
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DOI：
10.1183/23120541.00196-2018
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发表时间：
2019-02-01
影响因子：
4.6
通讯作者：
Garcia-Barcelo, Maria-Merce
中科院分区：
文献类型：
--
作者：
Hsu, Jacob Shujui;Zhang, Ruizhong;Garcia-Barcelo, Maria-Merce
背景：患有先天性肺气道畸形（CPAM）的新生儿可能会出现严重的呼吸窘迫或无症状。虽然手术切除是有症状的 CPAM 的最终治疗方法，但由于存在肿瘤发展的风险，可能会建议对无症状的 CPAM 进行预防性择期手术。然而，预防性手术的实施颇有争议，因为需要更多证据将 CPAM 与癌症联系起来。对 CPAM 发病机制的巨大了解导致了疾病管理的不确定性和争议。由于发育基因控制出生后细胞生长并促进癌症发展，我们假设 CPAM 可能是由控制气道发育的基因中的种系突变引起的。方法：对 19 名患者及其未受影响父母的外显子组进行测序。结果：癌症基因中的突变数量超过预期（错误发现率 q 值）
Background: Newborns affected with congenital pulmonary airway malformations (CPAMs) may present with severe respiratory distress or remain asymptomatic. While surgical resection is the definitive treatment for symptomatic CPAMs, prophylactic elective surgery may be recommended for asymptomatic CPAMs owing to the risk of tumour development. However, the implementation of prophylactic surgery is quite controversial on the grounds that more evidence linking CPAMs and cancer is needed. The large gap in knowledge of CPAM pathogenesis results in uncertainties and controversies in disease management. As developmental genes control postnatal cell growth and contribute to cancer development, we hypothesised that CPAMs may be underlain by germline mutations in genes governing airways development.Methods: Sequencing of the exome of 19 patients and their unaffected parents.Results: A more than expected number of mutations in cancer genes (false discovery rate q-value