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血管异常的分子表征组织指南 临床诊断
Scott B Henslee1, Whitney L Wooderchak-Donahue1,2, J Fred Grimmer3
1ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.
Lymphatic research and biology
|January 23, 2026
概括
下一代测序在近一半的血管异常组织样本中确定了致病变体. 基因检测有助于诊断这些复杂的内皮疾病,并指导患者的治疗.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 皮肤病学 皮肤病学
背景情况:
- 血管异常包括各种各样的内皮疾病与重叠的表型,使准确的诊断复杂化.
- 下一代测序 (NGS) 能够检测低频体质变异,提供潜在的诊断和治疗进展.
- 这项研究旨在确定患有各种血管异常的患者受影响组织中的致病变体.
研究的目的:
- 来自58名临床诊断为血管异常的无关患者的受影响组织中识别致病变体.
- 评估一个全面的NGS面板在血管病变中检测低水平的体质马赛克主义的实用性.
主要方法:
- 从新鲜/冷受影响组织样本中提取DNA.
- 使用定制的735基因血管异常/癌症下一代测序 (NGS) 面板进行评估.
- 检测体质马赛克主义低至1%的等位基频率.
主要成果:
- 在47% (27/58) 的血管异常活检中检测到致病或可能致病的变体.
- 在61.5%的淋巴发育不良,15%的血管瘤和67%的其他血管异常中发现了变异.
- 在淋巴细胞形中发现了PIK3CA和PIK3R1的新型变异;在婴儿血管瘤中发现了GNA14变异.
结论:
- 一个735基因的NGS面板有效地检测血管异常的低水平体质马赛克.
- 基因检测对于诊断具有挑战性的血管异常和告知治疗决策至关重要.
- 对于婴儿血瘤,需要进一步的研究,在超过一半的病例中,遗传原因仍然难以捉摸.
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