循环肿瘤DNA在淋巴瘤中的进展和应用

Progression and application of circulating tumor DNA in lymphoma

淋巴瘤是一种多亚型和强异质性的肿瘤,其分子谱分析的金标准方法是基于侵入性的淋巴结或组织活检,但该方法无法准确捕获每个患者体内的空间肿瘤异质性以及全身的肿瘤侵犯和肿瘤负荷情况。循环肿瘤DNA(circulating tumor DNA,ctDNA)是一种新兴且高度通用的生物标志物,它克服了成像扫描和组织活检的基本局限性,具有操作简便快速、无创、特异性好和灵敏度高等特征。ctDNA检测已经应用于淋巴瘤的多种亚型之中,并已用于体细胞突变基因分型、疗效监测、检测微小残留病以及预测预后生存,这些应用有助于临床医师在对淋巴瘤患者诊治时做出更好的临床决策。本文综述了ctDNA分析的不同方法,并描述了ctDNA在不同淋巴瘤亚型中的具体应用。

Lymphomas are a highly heterogeneous group of tumors that are classified into several subtypes.The gold standard method for the molecular profiling of lymphoma is based on invasive lymph node or tissue biopsy.However,this method cannot accurately capture spatial tumor heterogeneity in each patient as well as systemic tumor invasion and tumor burden.Circulating tumor DNA(ctDNA)is an emerging and highly versatile biomarker that overcomes the basic limitations of imaging scanning and tissue biopsy;has the characteristics of being simple,rapid,and non-invasive;and has good specificity and high sensitivity.ctDNA testing has been applied to a variety of subtypes of lymphoma and has been used for somatic mutation genotyping,efficacy monitoring during treatment,detection of minimal residual disease,and the prediction of survival,which may help clinicians make better clinical decisions in the diagnosis and treatment of lymphoma patients.Furthermore,this study also aims to review the different methods of ctDNA analysis and describe the specific applications of ctDNA in different lymphoma subtypes.