| 李健平,王琰,汤欣雨,等.循环游离 DNA在多发性骨髓瘤诊治中的研究进展[J].安徽医药,2025,29(8):1485-1490. |
| 循环游离 DNA在多发性骨髓瘤诊治中的研究进展 |
| Research progress on circulating cell-free DNA in the diagnosis and treatment of multiple myeloma |
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| DOI：10.3969/j.issn.1009-6469.2025.08.001 |
| 中文关键词: 多发性骨髓瘤 循环游离 DNA 诊断 预后 生物标志物 |
| 英文关键词: Multiple myeloma Circulating cell-free DNA Diagnosis Prognosis Biomarkers |
| 基金项目:国家自然科学基金项目( 82374237)；泰山学者工程专项经费资助项目( tsqn202211351) |
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| 中文摘要: |
| 目前，骨髓穿刺活检的细胞学及分子遗传学检查是多发性骨髓瘤( MM)诊断和预后分层的金标准，骨髓穿刺不仅增加病人痛苦感，且穿刺部位具有空间和时间受限性，以及对髓外病变诊断的局限性，使得追踪疾病进展仍具有挑战性。作为 MM新的生物标志物，循环游离 DNA(cfDNA)不仅侵入性更小，且具有较为理想的灵敏性及特异性，并能够完整地反映肿瘤细胞的遗传学特征，是疾病疗效评估、预后及复发监测的一种新方法，对病人的个体化治疗存在重大意义，已被逐渐应用于 MM的诊断与治疗中。该研究以 cfDNA对 MM的诊断、疾病病情评估及预后分析的临床应用进行综述，旨在探索 cfDNA对 MM病人精准医疗的贡献。 |
| 英文摘要: |
| Currently, bone marrow biopsy remains the gold standard for diagnosing multiple myeloma (MM) and assessing prognosisthrough cytological and molecular genetic analysis. However, its invasiveness, patient discomfort, spatial-temporal limitations, and in-ability to detect extramedullary lesions complicate disease monitoring. Circulating cell-free DNA (cfDNA) has emerged as a noninva-sive biomarker for MM, offering comparable sensitivity and specificity. cfDNA comprehensively reflects tumor genetic profiles, en-abling novel approaches for evaluating therapeutic efficacy, monitoring recurrence, and guiding prognosis. Its potential for individual-ized treatment has driven increasing clinical adoption in MM management. This review examines cfDNA's applications in MM diagno-sis, disease stratification, and prognostic analysis, highlighting its role in advancing precision medicine for MM patients. |
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