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J.Jpn. Surg. Soc.. 123(1): 53-60, 2022
Feature topic
LIQUID BIOPSY RESEARCH FOR CHILDHOOD CANCERS
Since the survival outcome of childhood cancers is gradually improving, it is essential to perform appropriate treatments with accurate diagnoses. Under these circumstances, liquid biopsy using circulating tumor cells (CTCs) in the blood or free nucleic acid (cfDNA) derived from tumors is used instead of conventional surgical resection and biopsy in order to make an accurate diagnosis. We isolated CTCs from mononuclear cells in whole blood by cell sorting with specific antibodies. Furthermore, the separated CTCs are collected under direct vision, and genomic analysis and gene expression analysis are performed using gene amplification strategies, while metabolic analysis is performed using single-cell analysis or so-called cellomics. The results showed that CTCs consist of various types of cells, reflecting tumor heterogeneity, and are useful in detecting most aggressive cancer cells and treatment-resistant cells in tumors. On the other hand, analysis using cfDNA has made it possible to detect
CTNNB1 gene mutations in hepatoblastoma,
WT1 mutations in nephroblastoma, and
MYCN amplification in neuroblastoma, leading to clinical applications. In the future, these liquid biopsies will support pathological diagnosis after surgical resection and will be a useful method for monitoring therapeutic effects and recurrence in childhood cancers.
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