基因组测序分类器在管理细胞学上不确定的细胞性甲状腺结节中的实用性
Sara Ahmadi1, Anupam Kotwal2, Athanasios Bikas1
1Brigham and Women's Hospital, Harvard Medical School, Department of Medicine, Division of Endocrinology, Boston, MA.
The Journal of clinical endocrinology and metabolism
|February 8, 2026
概括
肯定的基因组测序分类器 (GSC) 显示了瘤细胞甲状腺结节的高诊断性能,特别是贝塞斯达IV. 然而,它对贝塞斯达III结节的积极预测价值很低,特别是在哈西莫托结节.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 分子诊断学 分子诊断学
背景情况:
- 甲状腺结节中的瘤细胞存在诊断挑战,因为它们在良性和恶性疾病中都会出现.
- 瘤细胞的存在可能会损害现有的分子诊断测试对不确定的甲状腺结节的准确性.
研究的目的:
- 评估Afirma基因组测序分类器 (GSC) 在甲状腺结节中具有瘤细胞占主导地位和贝塞斯达细胞学类别III或IV的诊断性能.
- 评估哈西莫托甲状腺炎和TIRADS分类对Afirma GSC在这些特定结节类型中的表现的影响.
主要方法:
- 一项多中心的回顾性研究分析了贝塞斯达III或IV型瘤性甲状腺结节的成年患者的数据.
- 患者在2017年7月至2023年12月期间接受了细针吸收活检和Afirma GSC测试.
- 关键变量包括哈西莫托甲状腺炎的存在和TIRADS分类;测量的结果是良性呼叫率 (BCR),灵敏度,特异性,PPV和NPV.
主要成果:
- 这项研究包括359个结节 (57%贝塞斯达III,43%贝塞斯达IV),平均尺寸为2.0厘米.
- 亚菲尔玛总公司显示了高的良性呼叫率 (贝塞斯达III的81%,贝塞斯达IV的74%).
- 两种贝塞斯达类别的敏感性和NPV都很高 (分别为89-94%和99%),但贝塞斯达III结节的积极预测值 (PPV) 显著低 (24%),特别是当哈西莫托甲状腺炎存在时 (特异性也降低). TIRADS分类没有显著影响BCR或PPV.
结论:
- 与早期的瘤细胞甲状腺结节分子测试相比,Afirma GSC提供了高的良性呼叫率和更好的性能,特别是贝塞斯达IV结节.
- 贝塞斯达III结节的低正预测值,特别是在哈西莫托甲状腺炎的背景下,需要仔细的临床解释,并可能限制其在这个子组中的有用性.
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