Clinical significance of circulating tumor cells via combined whole exome sequencing in early stage cancer screening: A case report

Su,Zijian; Zhao,Jiangman; Ke,Shaoying; Zhang,Jian; Liu,Xiaoyu; Wang,Yu; Sun,Qihong; Pan,Qunxiong

doi:10.3892/etm.2018.6507

Clinical significance of circulating tumor cells via combined whole exome sequencing in early stage cancer screening: A case report

Authors:
- Zijian Su
- Jiangman Zhao
- Shaoying Ke
- Jian Zhang
- Xiaoyu Liu
- Yu Wang
- Qihong Sun
- Qunxiong Pan
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Affiliations: Department of Surgical Oncology, First Hospital of Quanzhou Affiliated to Fujian Medical University, Quanzhou, Fujian 362000, P.R. China, Biotecan Medical Diagnostics Co., Ltd., Zhangjiang Center for Translational Medicine, Shanghai 200120, P.R. China
Published online on: July 23, 2018 https://doi.org/10.3892/etm.2018.6507
Pages: 2527-2533
Copyright: © Su et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

A newly‑developed platform, integrating subtraction enrichment and immunostaining‑fluorescence in situ hybridization (SE-iFISH), was applied to analyze the clinical significance of circulating tumor cells (CTCs) for early screening of cancer in healthy people. The present case report describes one healthy individual who accepted a CTC peripheral blood test, and 8 CTCs/7.5 ml blood were detected. However, various conventional cancer biomarkers were all negative, including cervical cytological inspection, alpha‑fetoprotein, cancer antigen (CA)‑125, CA19‑9, carcinoembryonic antigen (CEA), CA15‑3 and human papilloma virus. To explore the origin of the CTCs, whole exome sequencing was used to analyze the CTC variation spectrum. A total of 42 mutations were associated with cancer according to analysis in COSMIC (http://cancer.sanger.ac.uk/cosmic). The results revealed a high risk of tumor in the colorectum, stomach and breast (13, 12 and 6 variations matched, respectively). In this individual, an intestinal polyp was discovered and removed by colonoscopy. The intestinal polyp was identified to be a hyperplastic polyp by pathological diagnosis. No lesions were discovered in the stomach and breast. No CTCs were detected in this patient's blood at 1 and 6 months after removal of the lesions. This case indicates that CTC detection by SE-iFISH has potential in early stage cancer screening, and the mutation spectrum of CTC assists the tracking of its sources.

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