循环瘤DNA在多发性骨髓瘤及其前体疾病中的临床影响
Sung-Soo Park1,2, Na Yung Kim3, Ji-Young Lim1,2
1Department of Hematology, Seoul St. Mary's Hematology Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Annals of laboratory medicine
|February 28, 2025
概括
使用有针对性的深度测序进行液体活检,为追踪多发性骨髓瘤 (MM) 遗传变化提供了一种最少的侵入性方法. 这种方法有助于了解疾病进展和预测治疗反应,改善个性化护理.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子诊断学 分子诊断
背景情况:
- 遗传变化对多发性骨髓瘤 (MM) 的发展和治疗耐药性至关重要.
- 传统的骨髓活检是侵入性的,可能无法捕捉疾病的异质性.
- 液体活检为基因分析提供了一个不那么侵入性的替代方案.
研究的目的:
- 通过针对性深度测序在多发性骨髓瘤中研究液体活检的临床影响.
- 分析循环瘤DNA (ctDNA) 在疾病不同阶段的遗传特征.
主要方法:
- 针对102名患者的ctDNA深度测序 (MGUS,燃烧的MM,有症状的MM).
- 根据疾病阶段和临床特征分析遗传特征.
- 序列ctDNA分析用于治疗反应预测.
主要成果:
- 随着疾病的进展,ctDNA突变数增加.
- 骨髓和ctDNA之间的共享突变在MM中更高.
- RAS/RAF,TP53,TET2和NRAS突变被丰富并与临床特征和预后相关.
- 序列ctDNA分析准确地预测了治疗反应.
结论:
- 液体活检是了解MM进展和预后的一个有前途的工具.
- 这种微创方法可以支持个性化治疗策略和实时疾病监测.
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