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. [ABSTRACT FROM AUTHOR]