J Shanghai Jiaotong Univ Sci

J Shanghai Jiaotong Univ Sci ›› 2021, Vol. 26 ›› Issue (1): 40-46.doi: 10.1007/s12204-021-2258-8

• Medicine-Engineering Interdisciplinary Research • Previous Articles     Next Articles

Mutational Analysis of OCT4+ and OCT4- Circulating Tumour Cells by Single Cell Whole Exome Sequencing in Stage I Non-Small Cell Lung Cancer Patients

Mutational Analysis of OCT4+ and OCT4- Circulating Tumour Cells by Single Cell Whole Exome Sequencing in Stage I Non-Small Cell Lung Cancer Patients

YAN Bo (颜波), FU Shijie (傅世杰), CHANG Yuanyuan (常媛媛), GU Aiqin (顾爱琴), DONG Qianggang (董强刚), LI Rong (李榕)    

  1. (1. Department of Pulmonary Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, China;
    2. Department of Thoracic Surgery, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, China;
    3. Cancer Stem Cell Research Group, Shanghai Jiao Tong University Cancer Institute, Shanghai 200032, China)
  2. (1. Department of Pulmonary Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, China;
    2. Department of Thoracic Surgery, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, China;
    3. Cancer Stem Cell Research Group, Shanghai Jiao Tong University Cancer Institute, Shanghai 200032, China)
  • Online:2021-02-28 Published:2021-01-19
  • Contact: DONG Qianggang (董强刚), LI Rong (李榕) E-mail:dongqianggang@icell.com.cn, xkyylirong@163.com

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Abstract: Circulating tumour cells (CTCs) were enriched in the peripheral blood of four patients with Stage I non-small cell lung cancer (NSCLC). Octamer-binding transcription factor-4 positive (OCT4+) and negative (OCT4-) CTCs were identified and captured by interphase fluorescence in situ hybridisation (iFISH). Single cell whole exome sequencing (WES) was performed and the corresponding bioinformatics data were analysed. OCT4+ cells were successfully detected in peripheral blood collected from all four Stage I lung cancer patients. Moreover,the tumour mutational burden (TMB) values observed for OCT4+ samples from the same patients were slightly smaller than those of the OCT4- samples; the difference was not statistically significant (P > 0.05). Thirteen and six characteristic mutations were found in negative samples and positive samples, respectively. The findings indicate that this methodology provides a potential diagnostic index for the early detection of NSCLC.


Key words: non-small cell lung cancer (NSCLC)| octamer-binding transcription factor-4 (OCT4)| circulating
tumour cells (CTCs)| whole exome sequencing (WES)

摘要： Circulating tumour cells (CTCs) were enriched in the peripheral blood of four patients with Stage I non-small cell lung cancer (NSCLC). Octamer-binding transcription factor-4 positive (OCT4+) and negative (OCT4-) CTCs were identified and captured by interphase fluorescence in situ hybridisation (iFISH). Single cell whole exome sequencing (WES) was performed and the corresponding bioinformatics data were analysed. OCT4+ cells were successfully detected in peripheral blood collected from all four Stage I lung cancer patients. Moreover,the tumour mutational burden (TMB) values observed for OCT4+ samples from the same patients were slightly smaller than those of the OCT4- samples; the difference was not statistically significant (P > 0.05). Thirteen and six characteristic mutations were found in negative samples and positive samples, respectively. The findings indicate that this methodology provides a potential diagnostic index for the early detection of NSCLC.


关键词: non-small cell lung cancer (NSCLC)| octamer-binding transcription factor-4 (OCT4)| circulating
tumour cells (CTCs)| whole exome sequencing (WES)

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