期刊
JOURNAL OF NIPPON MEDICAL SCHOOL
卷 89, 期 1, 页码 66-71出版社
MEDICAL ASSOC NIPPON MEDICAL SCH
DOI: 10.1272/jnms.JNMS.2022_89-107
关键词
breast cancer; liquid biopsy; genetic screening
资金
- Department of Breast Surgery and Oncology, Nippon Medical School, Tokyo, Japan
Liquid biopsy was used to detect PIK3CA mutations in patients with breast cancer. The study found that PIK3CA mutations can be detected even in patients with no mutations in their primary tumors. Combining tissue and liquid biopsies can provide clinically useful information for patients with breast cancer.
Background: PIK3CA is associated with tumor progression, and the prevalence of PIK3CA mutation is high in breast cancer. Liquid biopsy offers convenient, noninvasive, and real-time insight into genetic alteration. In this study, we used liquid biopsy to detect PIK3CA mutations in patients with breast cancer. Methods: We recruited patients with histologically confirmed breast cancer and distant metastases between April 2020 and September 2020. Circulating DNA was extracted from plasma (ctDNA) and exosomes (exoDNA). PIK3CA mutations (exons 9 and 20) were analyzed by droplet digital PCR. Results: Of the 52 patients recruited, 16 had PIK3CA mutations in tumor tissue or blood: 9 had exon 9 mutations (E542K and E545K) and 8 had exon 20 mutations (H1047 L and H1047R). In 8 (15%) of the 52 patients, PIK3CA mutations were detected by liquid biopsies using ctDNA in 5 (9%), exoDNA in 6 (11%), and both ctDNA and exoDNA in 3 (6%). Of the 8 patients with PIK3CA mutations detected by liquid biopsies, 3 had no PIK3CA mutations in the primary tumors. Conclusions: PIK3CA mutations can be detected by liquid biopsy even in patients with no PIK3CA mutations in their primary tumors; thus, combination analysis using tissue and liquid biopsies can provide clinically useful information for patients with breast cancer.
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