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

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.