Abstract
Cell-free DNA (cfDNA) can be detected in the circulation of healthy individuals, but is found in higher concentrations in cancer patients. Furthermore, mutations in tumor cells can be identified in circulating DNA fragments. This has been the subject of significant interest in the field of cancer research, but little has been published in thyroid cancer. To assess all available evidence on the use of circulating cfDNA in the diagnosis, management and surveillance of patients with differentiated thyroid cancer, and collate it into a systematic review to guide future research. A comprehensive literature search on the measurement of cfDNA in thyroid cancer was undertaken, and results from relevant studies collated into a systematic review. Nine studies were identified, with varying methodologies and findings. Key techniques and findings are summarized. There is limited but promising evidence that somatic mutations in thyroid cancer can be detected in circulating cfDNA and are associated with more advanced disease. Further research is required to develop a clinically useful tool based on cfDNA to improve the management of thyroid cancers.
Highlights
RationaleDifferentiated thyroid cancer (DTC) accounts for around 1% of all human cancers [1], and rates of diagnosis have been increasing in recent years, in part due to improving imaging techniques [2]
Cell-free DNA measurement is an area of particular interest in the field of thyroid cancer management due to the current difficulties in diagnosis, identification of high-risk patients, and post-treatment surveillance
Of the studies that reported overall detection rates of BRAFV600E in circulating Cell-free DNA (cfDNA), the average detection rate in patients with DTC was 10%. This increased to 19.3% when patients with nonBRAFV600E tumors were excluded
Summary
RationaleDifferentiated thyroid cancer (DTC) accounts for around 1% of all human cancers [1], and rates of diagnosis have been increasing in recent years, in part due to improving imaging techniques [2]. Survival rates in DTC are very good, there remains a subset of patients in whom the cancer behaves more aggressively and requires more aggressive management and follow-up. Distinguishing between these patients and those with indolent DTC remains a challenge. Cell-free DNA (cfDNA) can be detected in the circulation of healthy individuals, but is found in higher concentrations in cancer patients. Mutations in tumor cells can be identified in circulating DNA fragments. This has been the subject of significant interest in the field of cancer research, but little has been published in thyroid cancer
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