| 李健平.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,待发表. |
| 循环游离DNA在多发性骨髓瘤诊治中的研究进展 |
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| 投稿时间：2024-05-24 录用日期：2024-06-13 |
| DOI： |
| 中文关键词: 多发性骨髓瘤 cfDNA 诊断 预后 |
| 英文关键词: |
| 基金项目:国家自然科学基金项目（面上项目，重点项目，重大项目） |
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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（Multiple Myeloma，MM）诊断和预后分层的金标准，由于骨髓穿刺不仅增加患者痛苦感，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，并能够完整的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，对患者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。本文以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患者精准医疗的贡献。 |
| 英文摘要: |
| At present, the cytological and molecular genetic examination of bone marrow biopsy is the gold standard for the diagnosis and prognostic stratification of multiple myeloma (MM). Due to the increased patient pain, spatial and temporal limitations of the puncture site, as well as limitations in the diagnosis of extramedullary lesions, tracking disease progression remains challenging. As a new biomarker for MM, circulating free DNA (cfDNA) not only has less invasiveness, but also has ideal sensitivity and specificity, and can fully reflect the genetic characteristics of tumor cells. It is a new method for disease efficacy evaluation, prognosis, and recurrence monitoring, which has great significance for individualized treatment of patients and has gradually been applied in the diagnosis and treatment of MM. This article reviews the clinical application of cfDNA in the diagnosis, disease assessment, and prognosis analysis of MM, aiming to explore the contribution of cfDNA to precision medicine for MM patients. |
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