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基因组分析对血管异常的诊断和治疗提供了信息
Dong Li1,2,3, Sarah E Sheppard4,5,6, Michael E March7
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Lid2@chop.edu.
Nature medicine
|June 1, 2023
概括
液体活检的超深测序确定了超过40%的患者血管异常的遗传原因. 这种方法使得有针对性的治疗成为可能,改善了许多患有这些罕见疾病的人的治疗结果.
科学领域:
- 血管生物学和遗传学 血管生物学和遗传学
- 在瘤学瘤学.
- 罕见疾病是一种罕见的疾病.
背景情况:
- 血管异常,包括瘤和血液/淋巴血管的形,可能危及生命.
- 确定这些异常的分子基础对于向治疗至关重要,但由于组织可访问性和马赛克主义,往往受到阻碍.
研究的目的:
- 研究液体活检超深测序对诊断血管异常的有用性.
- 确定新的遗传原因,并指导血管异常患者的治疗干预措施.
主要方法:
- 来自CD31+细胞的DNA或来自淋巴液/血的无细胞DNA的超深度测序.
- 对356名患有各种血管异常的参与者队列的分析,其中包括104名患有初级复杂淋巴异常 (pCLAs).
- 检测致病性体质变异,低至变异性等位基因分数为0.15%.
主要成果:
- 分子诊断在41%的PCLA参与者和72%的其他血管形参与者中实现.
- 确定了以前未被描述的遗传原因.
- 对63%的被诊断参与者进行了新的医学治疗,其中63%的患者表现出临床改善.
结论:
- 基于液体活检的超深测序对诊断血管异常有效,包括罕见的遗传原因.
- 这种诊断方法促进了基因型-表型相关性,并指导了个性化医疗治疗.
- 这些发现支持开发液体活检技术,以改善血管异常的管理.
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