一个端粒酶逆转录酶 (TERT) 促进子突变试验的分析验证
Priyanka C Iyer1, Ramona Dadu1, Anna Barque2
1Department of Endocrine Neoplasia and Hormonal Disorders, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
The Journal of clinical endocrinology and metabolism
|March 5, 2024
概括
该Afirma TERT促进子突变试验经过分析验证,可用于检测甲状腺癌中的TERT突变. 这种强大的测试证明了高准确性和可重复性,支持其用于未确定的甲状腺结节的临床应用.
科学领域:
- 分子诊断学 分子诊断
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 端粒酶逆转录酶 (TERT) 促进子突变与甲状腺癌的较差结果有关.
- 准确的诊断测试对于在甲状腺结节管理中做出明智的临床决定至关重要.
- 分析验证确保了诊断测试结果的可靠性.
研究的目的:
- 为 Afirma TERT 促进子突变试验进行全面的分析验证.
- 评估试验的性能特征,包括灵敏度,特异性和可重复性.
主要方法:
- 在不同的基因组DNA输入中评估了TERT促进体C228T和C250T变异检测.
- 确定了变异性等位基频率 (VAF) 的检测极限 (LOD).
- 评估了负和正的百分比一致性 (NPA/PPA),对干扰物质的分析特异性 (RNA,血液gDNA) 和测试可重复性 (内运,间运,实验室间运).
主要成果:
- 在7-13 ng的DNA输入时,Afirma TERT测定可靠地检测到低至5%的VAF变异,灵敏度>95%.
- 与参考原料对相比,实现了100%的NPA和PPA,在RNA和血液gDNA的存在下保持了准确性.
- 与外部下一代测序试验100%一致,证实了高分析特异性和可重复性.
结论:
- 阿菲尔玛TERT测试表现出强大的分析性能和可重复性.
- 这些经过验证的特征支持该试验在不确定细胞学的甲状腺结节的常规临床应用.
- 该试验适合与Afirma基因组测序分类器结果或贝塞斯达V/VI结节一起使用.
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