期刊
JOURNAL OF CLINICAL MEDICINE
卷 9, 期 8, 页码 -出版社
MDPI
DOI: 10.3390/jcm9082481
关键词
COLD-PCR; digital PCR; BRAFV600E; papillary thyroid cancer; liquid biopsy
资金
- Murtha Cancer Center [PED-86-90-46]
- NIDDK [ZIE DK 04705313]
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [ZIADK075139, ZIEDK047053] Funding Source: NIH RePORTER
The detection of rare mutational targets in plasma (liquid biopsy) has emerged as a promising tool for the assessment of patients with cancer. We determined the presence of cell-free DNA containing theBRAFV600Emutations (cfBRAFV600E) in plasma samples from 57 patients with papillary thyroid cancer (PTC) with somaticBRAFV600Emutation-positive primary tumors using microfluidic digital PCR, and co-amplification at lower denaturation temperature (COLD) PCR. Mutant cfBRAFV600Ealleles were detected in 24/57 (42.1%) of the examined patients. The presence of cfBRAFV600Ewas significantly associated with tumor size (p= 0.03), multifocal patterns of growth (p= 0.03), the presence of extrathyroidal gross extension (p= 0.02) and the presence of pulmonary micrometastases (p= 0.04). In patients with low-, intermediate- and high-risk PTCs, cfBRAFV600Ewas detected in 4/19 (21.0%), 8/22 (36.3%) and 12/16 (75.0%) of cases, respectively. Patients with detectablecfBRAFV600Ewere characterized by a 4.68 times higher likelihood of non-excellent response to therapy, as compared to patients without detectable cfBRAFV600E (OR (odds ratios), 4.68; 95% CI (confidence intervals)) 1.26-17.32;p= 0.02). In summary, the combination of digital polymerase chain reaction (dPCR) with COLD-PCR enables the detection ofBRAFV600Ein the liquid biopsy from patients with PTCs and could prove useful for the identification of patients with PTC at an increased risk for a structurally or biochemically incomplete or indeterminate response to treatment.
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