Pisapia Pasquale, Iaccarino Antonino, Troncone Giancarlo, Malapelle Umberto
Department of Public Health, University of Naples Federico II, Naples, Italy.
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Naples, Italy.
Cytopathology. 2025 Jul;36(4):296-302. doi: 10.1111/cyt.13485. Epub 2025 Apr 11.
The advent of personalised and precision medicine has radically modified the management and the clinical outcome of cancer patients. However, the expanding number of predictive, prognostic, and diagnostic biomarkers has raised the need for simple, noninvasive, quicker, but equally efficient tests for molecular profiling. In this complex scenario, the adoption of liquid biopsy, particularly circulating tumour DNA (ctDNA), has been a real godsend for many cancer patients who would otherwise have been denied the benefits of targeted treatments. Undeniably, ctDNA analysis has several advantages over conventional tissue-based analysis. One advantage is that it can guide treatment decision making, especially when tissue samples are scarce or totally unavailable. Indeed, a simple blood test can inform clinicians on patients' response or resistance to targeted therapies, help them monitor minimal residual disease (MRD) after surgical resections, and facilitate them with early cancer detection and interception. Finally, an equally important advantage is that ctDNA analysis can help decipher temporal and spatial tumour heterogeneity, a mechanism highly responsible for therapeutic resistance. In this review, we gathered and analysed current evidence on the clinical usefulness of ctDNA analysis in solid tumours.
个性化和精准医学的出现彻底改变了癌症患者的管理方式和临床结局。然而,预测性、预后性和诊断性生物标志物的数量不断增加,这就需要进行简单、无创、快速但同样有效的分子谱检测。在这种复杂的情况下,液体活检,尤其是循环肿瘤DNA(ctDNA)的应用,对于许多原本无法从靶向治疗中获益的癌症患者来说,简直是天赐之物。不可否认,ctDNA分析相对于传统的基于组织的分析具有多个优势。一个优势是它可以指导治疗决策,尤其是在组织样本稀缺或完全无法获取时。实际上,一项简单的血液检测就能让临床医生了解患者对靶向治疗的反应或耐药情况,帮助他们监测手术切除后的微小残留疾病(MRD),并便于早期癌症的检测和拦截。最后,一个同样重要的优势是ctDNA分析有助于解读肿瘤的时空异质性,这是导致治疗耐药的一个重要机制。在本综述中,我们收集并分析了关于ctDNA分析在实体瘤中临床应用价值的现有证据。