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使用定制设计的下一代测序面板揭示遗传骨髓衰竭综合征的遗传病因

Fumin Lin¹, Kajia Cao¹, Fengqi Chang¹

¹Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

The Journal of molecular diagnostics : JMD

|December 16, 2023

概括

一个新的下一代测序小组准确地诊断儿童遗传性骨髓衰竭综合征 (IBMFS). 这种先进的基因检测提高了诊断产量,并确定了潜在的二次健康风险.

科学领域:

遗传学和基因组学遗传学和基因组学
血液学血液学血液学
儿科医学儿科医学

背景情况:

遗传性骨髓衰竭综合征 (IBMFS) 是一种罕见的遗传性疾病,影响大约30%的儿科骨髓衰竭病例.
这些综合征通常与发育问题和患癌症的风险增加有关.
准确的分子诊断对于适当的管理和遗传咨询至关重要.

研究的目的:

为了验证一个定制设计的下一代测序 (NGS) 面板的实验室性能和临床实用性,用于诊断儿科患者的IBMFS.
评估CHOP IBMFS小组在怀疑IBMFS的儿童队列中的诊断产量.
评估小组检测各种遗传变异的能力,包括单核酸变异,小插入/删除和副本数量变异.

主要方法:

对CHOP IBMFS下一代测序面板进行实验室验证.
该小组应用于269名疑似IBMFS的儿科患者队列.
分析包括识别单核酸变异,小插入/删除以及马赛克和非马赛克状态中的副本数变化.

主要成果:

CHOP IBMFS小组显示了高的分析准确性:100%的灵敏度,≥99.99%的特异性和100%的可重复性.
在21例 (7.8%) 病例中实现了IBMFS的分子诊断,发现了61种致病性/可能致病性变异和24种低形态变异.
二次发现,包括早期的血液恶性瘤和遗传性癌症倾向综合征,在9例 (3.3%) 中被注意到.

结论:

CHOP IBMFS下一代测序面板是一种高度敏感和特定的工具,用于诊断儿童遗传性骨髓衰竭综合征.
与以前的方法相比,这种NGS面板显著提高了IBMFS的诊断产量.
该研究支持将基于NGS的面板测试整合到疑似IBMFS的儿科患者的常规诊断中.

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