RNF213 gene mutation in circulating tumor DNA detected by targeted next‐generation sequencing in the assisted discrimination of early‐stage lung cancer from pulmonary nodules

Autor: Hubo Shi, Chengke Zhang, Chengjun Zhou, Yu Liu, Yuliang Li, Chuanliang Peng, Yingtao Hao, Yunshan Wang, Xiaogang Zhao, Jie Zhou, Li Peichao, Weiquan Zhang, Ning Jiang, Qifeng Sun, Wenhao Zhang
Rok vydání: 2020
Předmět:
Zdroj: Thoracic Cancer. 12:181-193
ISSN: 1759-7714
1759-7706
Popis: BACKGROUND To distinguish early-stage lung cancer from benign disease in pulmonary nodules, especially lesions with ground-glass opacity (GGO), we assessed gene mutations of ctDNA in peripheral blood using targeted next-generation sequencing (NGS). METHODS Single pulmonary nodule patients without mediastinal lymph nodes and symptoms that were hard to diagnose by chest CT and lung cancer biomarker measurement in multiple medical centers were enrolled into the study. All patients accepted minimally invasive surgery but refused preoperative biopsy. Gene mutations in preoperative blood samples were detected by targeted NGS. Mutations with significant differences between lung tumors and benign lesions, as grouped by postoperative pathology, were screened. Protein expression was determined by immunohistochemistry. Highly expressed genes were selected as biomarkers to verify the mutations in peripheral blood. RESULTS In the training set, the RNF213, KMT2D, CSMD3 and LRP1B genes were mutated more frequently in early-stage lung cancer (27 cases) than in benign nodules (15 cases) (P
Databáze: OpenAIRE
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