B细胞和T细胞淋巴瘤的液体活检:从实验台到病床旁

Liquid Biopsy in B and T Cell Lymphomas: From Bench to Bedside.

作者信息

Almasri Mohammad, Maher Nawar, Al Deeban Bashar, Diop Ndeye Marie, Moia Riccardo, Gaidano Gianluca

机构信息

Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, Italy.

Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Azienda Ospedaliero-Universitaria di Alessandria, 56121 Alessandria, Italy.

出版信息

Int J Mol Sci. 2025 May 19;26(10):4869. doi: 10.3390/ijms26104869.

Abstract

Liquid biopsy through the analysis of circulating tumor DNA (ctDNA) is emerging as a powerful and non-invasive tool complementing tissue biopsy in lymphoma management. Whilst tissue biopsy remains the diagnostic gold standard, it fails to detect the molecular heterogeneity of the tumor's multiple compartments and poses challenges for sequential disease monitoring. In diffuse large-B-cell lymphoma (DLBCL), ctDNA facilitates non-invasive genotyping by identifying hallmark mutations (e.g., , , ), enabling molecular cluster classification. Dynamic changes in ctDNA levels during DLBCL treatment correlate strongly with progression-free survival and overall survival, underscoring its value as a predictive and prognostic biomarker. In Hodgkin's lymphoma, characterized by a scarcity of malignant cells in tissue biopsies, ctDNA provides reliable molecular insights into tumor biology, response to therapy, and relapse risk. In primary central nervous system lymphoma, the detection of L265P in ctDNA offers a highly sensitive, specific, and minimally invasive diagnostic option. Likewise, in aggressive T-cell lymphomas, ctDNA supports molecular profiling, aligns with tumor burden, and shows high concordance with tissue-based results. Ongoing and future clinical trials will be critical for validating and standardizing ctDNA applications, ultimately integrating liquid biopsy into routine clinical practice and enabling more personalized and dynamic lymphoma care.

摘要

通过分析循环肿瘤DNA(ctDNA)进行液体活检,正成为一种强大的非侵入性工具,在淋巴瘤治疗中可作为组织活检的补充。虽然组织活检仍是诊断的金标准,但它无法检测肿瘤多个区室的分子异质性,且对疾病的连续监测构成挑战。在弥漫性大B细胞淋巴瘤(DLBCL)中,ctDNA通过识别标志性突变(如 、 、 )促进非侵入性基因分型,实现分子聚类分类。DLBCL治疗期间ctDNA水平的动态变化与无进展生存期和总生存期密切相关,凸显了其作为预测和预后生物标志物的价值。在霍奇金淋巴瘤中,组织活检中恶性细胞稀少,ctDNA为肿瘤生物学、治疗反应和复发风险提供了可靠的分子见解。在原发性中枢神经系统淋巴瘤中,检测ctDNA中的L265P提供了一种高度敏感、特异且微创的诊断选择。同样,在侵袭性T细胞淋巴瘤中,ctDNA支持分子谱分析,与肿瘤负荷相符,并与基于组织的结果高度一致。正在进行的和未来的临床试验对于验证和规范ctDNA的应用至关重要,最终将液体活检纳入常规临床实践,实现更个性化和动态的淋巴瘤治疗。

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