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Updated: Jan 8, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing

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全基因组拷贝数分析通过浅层全基因组测序来增强多发性骨髓瘤的风险分层

Baijun Fang¹, Zunmin Zhu², Yinyin Chang³

¹Henan Tumor Research Institute, Zhengzhou, China.

|December 12, 2025

概括

与型定型相比,LeukoPrint是一种浅层的全基因组测序试验,显著改善了多发性骨髓瘤 (MM) 中的副本数异常检测. 这一进步有助于对MM患者进行精确的预后风险分层.

科学领域:

基因组学就是基因组学.
在瘤学瘤学.
分子诊断学分子诊断

背景情况:

准确检测副本数异常 (CNAs) 对于多发性骨髓瘤 (MM) 的预后至关重要.
传统的细胞遗传方法,如型定型,在全面的CNA检测方面存在局限性.

研究的目的:

评估LeukoPrint,一种浅层全基因组测序 (sWGS) 试验,用于MM的全基因组CNA分析.
将LeukoPrint的诊断性能和临床实用性与传统方法进行比较.

主要方法:

开发并使用LeukoPrint (sWGS) 进行CNA分析.
分析了423名MM患者的CNA概况.
将LeukoPrint的结果与型和光在位杂交 (FISH) 的结果进行比较.

主要成果:

与 karyotyping (11.2%) 相比,LeukoPrint显著提高了异常检测率 (75.2%).
在73.3%的型阴性病例中确定了CNA.
在关键预后CNA方面与FISH达成94.0%的一致性.

结论:

LeukoPrint为MM的常规细胞遗传学分析提供了一种优越的替代品.
将LeukoPrint + FISH集成到风险模型中可以改善预后分层,并确定需要加强治疗的患者.
LeukoPrint有助于通过不同的CNA模式来理解MM生物异质性.

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