在患有细胞学不确定的甲状腺结节的年轻患者中,确认基因组测序分类器性能
Luz E Castellanos1, Julian Bryan2, Julio C Ricarte-Filho3
1Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
The Journal of clinical endocrinology and metabolism
|February 12, 2026
概括
肯定的基因组测序分类器 (GSC) 在患有未确定的甲状腺结节 (ITN) 的年轻患者中显示出高准确性. 这种分子测试提供了100%的负预测值,证实了它在这个年龄组的可靠性.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 基因组学就是基因组学.
背景情况:
- 确定的基因组测序分类器 (GSC) 为21岁以上的患者建立,对恶性瘤有96%的负预测值 (NPV).
- 有限的正式研究存在于儿童和青少年 (<21岁) 患有不确定的甲状腺结节 (ITN) 的Afirma GSC表现.
研究的目的:
- 评估Afirma GSC测试在21岁以下的患有未确定的甲状腺结节的患者的疗效和性能.
- 评估Afirma GSC在年轻患者队列中的负预测值和诊断准确性.
主要方法:
- 对Afirma GSC测试数据的回顾性分析.
- 包括49个不确定的甲状腺结节,来自9-20岁的患者.
- 结果是根据组织病理学或至少两年的临床随访来确定的.
主要成果:
- 据Afirma GSC证明,良性结果的100%负预测值 (NPV),所有30个GSC-良性 (GSC-B) 病例都被确认为良性.
- 检测恶性瘤的灵敏度为100% (14/14 GSC-可疑病例是恶性),特异性为86% (30/35 个良性病例是GSC-B).
- 恶性结节包括乳头状甲状腺癌,细胞癌,卵泡状甲状腺癌,以及具有乳头状核特征的非侵入性卵泡状甲状腺瘤.
结论:
- 阿菲尔玛GSC是评估年轻患者 (21岁以下) 甲状腺不确定的结节的一个有价值的工具.
- 该测试表现出极好的负预测价值,支持其在临床决策中用于这一人口群体.
- 结果表明诊断的准确性很高,与其在成年人群中的表现相当.
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