液体活检，特别是循环肿瘤 DNA (ctDNA)，作为癌症患者临床应用的无创或微创检测方法引起了广泛关注。由于相对较高的 ctDNA 浓度和大量的肿瘤特异性遗传和表观遗传异常，许多血液恶性肿瘤非常适合连续和重复的 ctDNA 监测。近年来检测技术的进步显着提高了灵敏度和特异性，从而拓宽和加强了ctDNA的潜在用途，包括早期诊断、预后评估、治疗反应评估、微小残留病监测、靶向治疗选择和免疫治疗监测。本手稿回顾了 ctDNA 在血液恶性肿瘤（特别是淋巴瘤、骨髓瘤和白血病）中的检测方法、临床应用和未来挑战。版权所有 © 2024。由 Elsevier Ltd 出版。

Liquid biopsy, particularly circulating tumor DNA (ctDNA), has drawn a lot of attention as a non- or minimal-invasive detection approach for clinical applications in patients with cancer. Many hematological malignancies are well suited for serial and repeated ctDNA surveillance due to relatively high ctDNA concentrations and high loads of tumor-specific genetic and epigenetic abnormalities. Progress of detecting technology in recent years has improved sensitivity and specificity significantly, thus broadening and strengthening the potential utilities of ctDNA including early diagnosis, prognosis estimation, treatment response evaluation, minimal residual disease monitoring, targeted therapy selection, and immunotherapy surveillance. This manuscript reviews the detection methodologies, clinical application and future challenges of ctDNA in hematological malignancies, especially for lymphomas, myeloma and leukemias.Copyright © 2024. Published by Elsevier Ltd.