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
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DOI：
10.1007/s12204-021-2258-8
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发表时间：
2021-01
影响因子：
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通讯作者：
B. Yan;S. Fu;Yuanyuan Chang;A. Gu;Q. Dong;Rong Li
中科院分区：
文献类型：
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作者：
B. Yan;S. Fu;Yuanyuan Chang;A. Gu;Q. Dong;Rong Li
对4例I期非小细胞肺癌(NSCLC)患者外周血中循环肿瘤细胞(CTCs)进行了检测。用间期荧光原位杂交技术(IFISH)鉴定和捕获八聚体结合转录因子4阳性(OCT4+)和阴性(OCT4−)CTCs。进行单细胞全外显子组测序，并对相应的生物信息学数据进行分析。4例I期肺癌患者外周血中均检测到Oct4+细胞。此外，来自同一患者的OCT4+样本的肿瘤突变负荷(TMB)值略低于OCT4−样本，差异无统计学意义(P>；0.05)。在阴性样本和阳性样本中分别发现13个和6个特征突变。结果表明，该方法为非小细胞肺癌的早期发现提供了一个潜在的诊断指标。
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 fluorescencein situhybridisation (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.