Niedziela Emilia, Niedziela Łukasz, Kowalska Aldona, Kowalik Artur
Department of Endocrinology, Holy Cross Cancer Center, 25-734 Kielce, Poland.
Collegium Medicum, Jan Kochanowski University, 25-317 Kielce, Poland.
J Clin Med. 2024 Sep 12;13(18):5396. doi: 10.3390/jcm13185396.
: Liquid biopsy is a method that could potentially improve the management of thyroid cancer (TC) by enabling the detection of circulating tumor DNA and RNA (ctDNA, ctRNA). The mutation appears to be the most representative example of a biomarker in liquid biopsy, as it is the most specific mutation for TC and a target for molecular therapeutics. The aim of this review is to summarize the available data on the detection of the mutation in liquid biopsy in patients with TC. : A comprehensive analysis of the available literature on the detection of the mutation in liquid biopsy in TC was performed. Thirty-three papers meeting the inclusion criteria were selected after full-text evaluation. : Eleven papers discussed correlations between mutation and clinicopathological characteristics. Nine studies tested the utility of detection in the assessment of residual or recurrent disease. Seven studies investigated -mutated circulating tumor nucleic acids (ctNA) as a marker of response to targeted therapy. In seven studies the method did not detect the mutation. : This review shows the potential of -mutated ctNA detection in monitoring disease progression, particularly in advanced TC. The diagnostic value of -mutated ctNA detection appears to be limited to advanced TC. The choice of the molecular method (quantitative PCR [qPCR], droplet digital polymerase chain reaction [ddPCR], and next-generation sequencing [NGS]) should be made based on the turnaround time, sensitivity of the test, and the clinical indications. Despite the promising outcomes of some studies, there is a need to verify these results on larger cohorts and to unify the molecular methods.
液体活检是一种通过检测循环肿瘤DNA和RNA（ctDNA、ctRNA），有可能改善甲状腺癌（TC）管理的方法。该突变似乎是液体活检中生物标志物最具代表性的例子，因为它是TC最特异的突变，也是分子治疗的靶点。本综述的目的是总结甲状腺癌患者液体活检中该突变检测的现有数据。：对甲状腺癌液体活检中该突变检测的现有文献进行了全面分析。经过全文评估，筛选出33篇符合纳入标准的论文。：11篇论文讨论了该突变与临床病理特征之间的相关性。9项研究测试了该检测在评估残留或复发性疾病中的效用。7项研究调查了该突变的循环肿瘤核酸（ctNA）作为靶向治疗反应的标志物。7项研究中该方法未检测到该突变。：本综述显示了该突变的ctNA检测在监测疾病进展方面的潜力，特别是在晚期甲状腺癌中。该突变的ctNA检测的诊断价值似乎仅限于晚期甲状腺癌。分子方法（定量PCR[qPCR]、液滴数字聚合酶链反应[ddPCR]和下一代测序[NGS]）的选择应基于周转时间、检测的敏感性和临床指征。尽管一些研究取得了有前景的结果，但仍需要在更大的队列中验证这些结果，并统一分子方法。
