Application of molecular diagnostics in thyroid cancer

我们分析了在美国国立卫生研究院治疗的甲状腺结节患者中细胞学不确定的发生率。我们记录了在不明原因的甲状腺结节患者中，甲状腺癌的患病率为26.6%。对不确定的甲状腺结节患者进行积极监测或手术治疗。在转诊为诊断/治疗性甲状腺手术的患者中，46%的患者最终病理证实为甲状腺癌。我们的数据表明，54%的良性疾病患者本可以避免手术治疗。因此，我们根据结节的临床特征和细针抽吸活检标本和循环中游离DNA样本的分子特征建立了一种算法。我们正计划在目前的研究组以及对不确定的甲状腺结节患者的前瞻性验证队列中测试它的准确性。

We have analyzed the prevalence of indeterminate cytology in patients with thyroid nodules treated at the NIH. We documented that among patients with indeterminate thyroid nodules, the prevalence of thyroid cancer was 26.6%. The cohort of patients with indeterminate thyroid nodules was offered either an active surveillance or surgical treatment. Among patients who were referred for a diagnostic/therapeutic thyroid surgery, thyroid cancer was confirmed by the final pathology in 46% of patients. Our data indicate that surgical treatment could have been avoided in 54% of patients with benign disease. Therefore, we have established an algorithm based on clinical characteristics of the nodule and molecular signature of the fine needle aspiration biopsy samples and circulating free DNA samples. We are planning to test it's accuracy in the current study group as well as in a prospective validation cohort of patients with indeterminate thyroid nodules.