Fu Lina, Zhou Xuerong, Zhang Xiaoyu, Li Xuhua, Zhang Fan, Gu Hongcang, Wang Xiaoxue
Anhui Province Key Laboratory of Medical Physics and Technology, Institute of Health and Medical Technology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, 230031, Anhui Province, China.
Hefei Cancer Hospital, Chinese Academy of Sciences, Hefei, 230031, Anhui Province, China.
J Hematol Oncol. 2025 Mar 11;18(1):29. doi: 10.1186/s13045-025-01673-7.
Lymphoma, a malignant tumor derived from lymphocytes and lymphoid tissues, presents with complex and heterogeneous clinical manifestations, requiring accurate patient classification for appropriate treatment. While invasive pathological examination of lymph nodes or lymphoid tissue remains the gold standard for lymphoma diagnosis, its utility is limited in cases of deep-seated tumors such as intraperitoneal and central nervous system lymphomas. In addition, biopsy procedures carry an inherent risk of complications. Computed tomography (CT) and positron emission tomography/computed tomography (PET/CT) imaging are essential for treatment assessment and monitoring, but lack the ability to detect early clonal evolution and minimal residual disease (MRD). Liquid biopsy-based analysis of circulating tumor DNA (ctDNA) offers a non-invasive alternative that allows for repeated sampling and overcomes the limitations of spatial heterogeneity and invasive biopsies. ctDNA provides genetic and epigenetic insights into lymphoma and serves as a dynamic, quantifiable biomarker for diagnosis, risk stratification, and treatment response. This review comprehensively summarizes common genetic variations in lymphoma and systematically evaluates ctDNA detection technologies, including PCR-based assays and next-generation sequencing (NGS). Applications of ctDNA detection in noninvasive genotyping, risk stratification, therapeutic response monitoring, and MRD detection are discussed across various lymphoma subtypes, including diffuse large B-cell lymphoma, Hodgkin lymphoma, follicular lymphoma, and T-cell lymphoma. By integrating recent research findings, the review highlights the role of ctDNA profiling in advancing precision medicine, enabling personalized therapeutic strategies, and improving clinical outcomes in lymphoma.
淋巴瘤是一种起源于淋巴细胞和淋巴组织的恶性肿瘤，临床表现复杂且具有异质性，需要对患者进行准确分类以便进行恰当治疗。虽然对淋巴结或淋巴组织进行侵入性病理检查仍是淋巴瘤诊断的金标准，但在腹膜内和中枢神经系统淋巴瘤等深部肿瘤病例中，其应用受到限制。此外，活检程序存在并发症的固有风险。计算机断层扫描（CT）和正电子发射断层扫描/计算机断层扫描（PET/CT）成像对于治疗评估和监测至关重要，但缺乏检测早期克隆进化和微小残留病（MRD）的能力。基于液体活检的循环肿瘤DNA（ctDNA）分析提供了一种非侵入性替代方法，允许重复采样，并克服了空间异质性和侵入性活检的局限性。ctDNA为淋巴瘤提供了遗传和表观遗传学见解，并作为诊断、风险分层和治疗反应的动态、可量化生物标志物。本综述全面总结了淋巴瘤中常见的基因变异，并系统评估了ctDNA检测技术，包括基于PCR的检测方法和下一代测序（NGS）。讨论了ctDNA检测在各种淋巴瘤亚型（包括弥漫性大B细胞淋巴瘤、霍奇金淋巴瘤、滤泡性淋巴瘤和T细胞淋巴瘤）的非侵入性基因分型、风险分层、治疗反应监测和MRD检测中的应用。通过整合最近的研究结果，本综述强调了ctDNA分析在推进精准医学、实现个性化治疗策略以及改善淋巴瘤临床结局方面的作用。
