Dataset Information

Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations.

ABSTRACT:

Background

The incidence of non-small cell lung cancer (NSCLC) in Uygur population is gradually increasing recently. In view of the great diagnostic and prognostic values of cell-free DNAs (cfDNA) detection, this study focus on a liquid biopsy to explore the value of cfDNA mutation in healthy and NSCLC patients in 2 ethnicities.

Methods

The concentration and sequencing of cfDNA in NSCLC and healthy subjects was assessed with a standard information analysis procedure, including detection, annotation, and statistical analysis. Gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses were conducted to analyze the function of mutant genes and related pathways. Totally, 133 subjects, including 35 Uygur NSCLC patients, 10 Uygur healthy subjects, 63 cases of Han NSCLC patients and 25 Han health control, were admitted to the hospital.

Results

There were a lower proportion of adenocarcinoma and higher percentage of smoking rate for Uygur patients. For cfDNA level between NSCLC and healthy subjects, Han patients exhibited sharp increase while there was no statistical difference in Uygur population. In addition, the mutation frequency of cfDNA in Han patients (72.6%) was significantly higher than Uygur patients (45.7%). There were 5 gene mutations only found in Han patients and ABCC11 showed a higher mutation frequency in Uygur population as a common one. Finally, Go and Kyoto Encyclopedia of Genes and Genomes analysis showed apprent functional enrichments and pathway changes between 2 ethnicities.

Conclusion

There existed distinct distributions of cancer subtypes, smoking proportion, cfDNA level, and mutation patterns between Han and Uygur patients. The results may be a useful tool in NSCLC patients' diagnosis as well as individualized therapy between ethnicities in future.

SUBMITTER: Wang Y

PROVIDER: S-EPMC7850657 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations.

Wang Yuli Y Li Jing J Huang Jian J Wu Chaoqun C Li Li L Gong Ping P

Medicine 20210101 4

<h4>Background</h4>The incidence of non-small cell lung cancer (NSCLC) in Uygur population is gradually increasing recently. In view of the great diagnostic and prognostic values of cell-free DNAs (cfDNA) detection, this study focus on a liquid biopsy to explore the value of cfDNA mutation in healthy and NSCLC patients in 2 ethnicities.<h4>Methods</h4>The concentration and sequencing of cfDNA in NSCLC and healthy subjects was assessed with a standard information analysis procedure, including det ...[more]

PMID: 33530206

Similar Datasets

Project description:BackgroundEarly-stage non-small cell lung cancer (NSCLC) has a high recurrence rate despite proper management, including curative surgery. Circulating tumor cells (CTCs) are believed to play a key role in the distant metastasis of lung cancer. Immunofluorescence imaging studies of CTCs have revealed that they are associated with the prognosis of NSCLC. However, the mutational profiling of CTCs from early-stage NSCLC has not been extensively explored. We hypothesized that CTCs could be detected by mutational analysis using panel sequencing and would have distinct mutations associated with distant metastasis compared to those of primary cancer tissue in early-stage NSCLC. Thus, this study examined the DNA from CTCs using targeted panel sequencing to identify mutations and compared them with mutations found in primary cancer tissue in patients with resectable early-stage NSCLC.MethodsOverall, 45 patients with resectable NSCLC were prospectively enrolled from September to December 2023. Matched whole blood samples and primary cancer tissues were collected during curative surgery. Then, 405-gene targeted panel sequencing was performed on DNA from primary cancer tissues and CTCs.ResultsIn this study, 37 patients (82%) had adenocarcinoma, and 30 (67%) were classified as having pathologic stage 1 disease. Mutated genes were detected in all (100%) and 31 patients (69%) for primary cancer tissue and CTCs from panel sequencing, respectively. The partial concordance rate of mutations between primary cancer tissue and CTCs was 17.8%, with the top 10 mutated genes differing significantly. Among primary cancer tissue samples, mutated genes differed by stage and histologic type; these findings were not observed in CTCs. CTCs predominantly displayed mutations in tumor suppressor genes, whereas primary cancer tissues exhibited mutations in both oncogenes and tumor suppressor genes.ConclusionsCTCs exhibited unique mutations, showing low concordance with mutations found in primary cancer tissue. CTCs may possess specific mutations independent from those of primary cancer tissue in early-stage NSCLC.

Dataset Information

Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations.

Background

Methods

Results

Conclusion

Publications

Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations.

Similar Datasets

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