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Research article
Xiaogang Zhao
Corresponding Author
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Introduction
To distinguish early stage lung cancer from benign disease of the lung nodules, especially the lesions with ground-glass opacity (GGO) or ground-glass nodule (GGN), we assessed gene mutations of the ctDNA in peripheral blood by using targeted next-generation sequencing (NGS).
Methods
Single lung nodule patients without mediastinal lymph nodes or symptoms hardly diagnosed by chest CT and biomarker of lung cancer were enrolled. All patients received minimally invasive surgery but refused preoperative biopsy. Gene mutations of pre-operative blood samples were detected by targeted NGS. Mutations with statistical differences were screened in lung cancer and benign disease grouped by postoperative pathology. Gene expression was determined by immunohistochemistry. Highly expressed genes were selected as biomarkers to verify the mutations in peripheral blood.
Results
In training set, RNF213, KMT2D, CSMD3 and LRP1B genes mutated more frequently in early stage lung cancer (25cases) than benign nodules (18cases) (P<0.05). High expressions of RNF213 gene in lung cancers and low expressions in benign diseases were evaluated by immunohistochemistry. RNF213 gene mutated in 25% lung cancer samples in the validation set of 28 samples and showed high specificity (100%) and low sensibility (25.9%). In GGO and GGN patients, RNF213 mutated more frequently in early stage lung cancer compared to benign diseases (P<0.05).
Conclusions
RNF213 gene mutation was observed more frequently in early stage lung cancer, but rather than benign nodules. Mutation of RNF213 gene in peripheral blood may be a high specificity biomarker and valuable for early diagnosis of lung cancer.
Keywords
Lung cancer; Early diagnosis; Targeted next generation sequencing (NGS); RNF213 gene; Circulating tumor DNA (ctDNA)
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A new preprint design is coming!
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This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Research article
Xiaogang Zhao
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 16 Jul, 2019
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Cancer Biology
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Introduction
To distinguish early stage lung cancer from benign disease of the lung nodules, especially the lesions with ground-glass opacity (GGO) or ground-glass nodule (GGN), we assessed gene mutations of the ctDNA in peripheral blood by using targeted next-generation sequencing (NGS).
Methods
Single lung nodule patients without mediastinal lymph nodes or symptoms hardly diagnosed by chest CT and biomarker of lung cancer were enrolled. All patients received minimally invasive surgery but refused preoperative biopsy. Gene mutations of pre-operative blood samples were detected by targeted NGS. Mutations with statistical differences were screened in lung cancer and benign disease grouped by postoperative pathology. Gene expression was determined by immunohistochemistry. Highly expressed genes were selected as biomarkers to verify the mutations in peripheral blood.
Results
In training set, RNF213, KMT2D, CSMD3 and LRP1B genes mutated more frequently in early stage lung cancer (25cases) than benign nodules (18cases) (P<0.05). High expressions of RNF213 gene in lung cancers and low expressions in benign diseases were evaluated by immunohistochemistry. RNF213 gene mutated in 25% lung cancer samples in the validation set of 28 samples and showed high specificity (100%) and low sensibility (25.9%). In GGO and GGN patients, RNF213 mutated more frequently in early stage lung cancer compared to benign diseases (P<0.05).
Conclusions
RNF213 gene mutation was observed more frequently in early stage lung cancer, but rather than benign nodules. Mutation of RNF213 gene in peripheral blood may be a high specificity biomarker and valuable for early diagnosis of lung cancer.
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
Figure 6
This is a list of supplementary files associated with this preprint. Click to download.
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