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


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.

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Correspondence to Qianggang Dong 董强刚 or Rong Li 李榕.

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the National Natural Science Foundation of China (No. 81773273)

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Yan, B., Fu, S., Chang, Y. et al. Mutational Analysis of OCT4+ and OCT4 Circulating Tumour Cells by Single Cell Whole Exome Sequencing in Stage I Non-Small Cell Lung Cancer Patients. J. Shanghai Jiaotong Univ. (Sci.) 26, 40–46 (2021).

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Key words

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

CLC number

  • R 734.2

Document code

  • A