Hansen Marie-Louise Uhre, Bendtsen Simone Kloch, Jakobsen Kathrine Kronberg, Schmidt Ane Yde, Hahn Christoffer Holst, von Buchwald Christian, Grønhøj Christian
Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
Diagnostics (Basel). 2024 Jul 22;14(14):1577. doi: 10.3390/diagnostics14141577.
Thyroid cancer (TC) represents a significant health burden globally, with follicular thyroid cancer (FTC) posing diagnostic challenges despite advancements. This pilot study aimed to evaluate the utility of a liquid biopsy with cell-free DNA (cfDNA) in patients with FTC. Blood samples were collected from 13 patients diagnosed with FTC, DNA extraction was performed, and cfDNA was analyzed using the Illumina's TruSight Oncology 500 High-Throughput panel. The results revealed low tumor mutational burden and minimal pathogenic variants in cfDNA, indicating challenges such as low DNA yield and poor material quality despite adequate coverage. Our findings indicate that cfDNA as an add-on diagnostic tool in patients with FTC might not be a useful supplement.
甲状腺癌（TC）在全球范围内构成了重大的健康负担，尽管取得了进展，但滤泡状甲状腺癌（FTC）仍带来诊断挑战。这项前瞻性研究旨在评估游离DNA（cfDNA）液体活检在FTC患者中的效用。从13例诊断为FTC的患者中采集血样，进行DNA提取，并使用Illumina公司的TruSight Oncology 500高通量检测板分析cfDNA。结果显示，cfDNA中的肿瘤突变负荷较低，致病性变异极少，这表明尽管覆盖范围足够，但仍存在DNA产量低和材料质量差等挑战。我们的研究结果表明，cfDNA作为FTC患者的辅助诊断工具可能并非有用的补充手段。
