Molecular Testing for Mutations in Improving the Fine-Needle Aspiration Diagnosis of Thyroid Nodules
Molecular Testing for Mutations in Improving the Fine-Needle Aspiration Diagnosis of Thyroid Nodules
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DOI：
10.1210/jc.2009-0247
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发表时间：
2009-06-01
影响因子：
5.8
通讯作者：
Nikiforova, Marina N.
中科院分区：
文献类型：
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作者：
Nikiforov, Yuri E.;Steward, David L.;Nikiforova, Marina N.
背景：甲状腺结节在成人中很常见，但其中只有一小部分是恶性的。细针抽吸（FNA）结合细胞学评估是甲状腺结节癌症诊断最可靠的工具。然而，10-40% 的结节通过细胞学诊断为不确定，因此很难对这些患者进行最佳管理。 目的：本研究的目的是确定肿瘤特异性突变检测在改善甲状腺结节 FNA 诊断中的可行性和作用。 设计：前瞻性研究包括来自 328 名患者的 470 个甲状腺结节的 FNA 样本。抽吸时，收集一小部分材料并测试 BRAF、RAS、RET/PTC 和 PAX8/PPAR gamma 突变。突变状态与细胞学、手术病理诊断或随访（平均 34 个月）相关。结果：在 98% 的样本中分离到足够量的核酸。发现了 32 个突变，包括 18 个 BRAF、8 个 RAS、5 个 RET/PTC 和 1 个 PAX8/PPAR gamma。任何突变的存在都是癌症的有力指标，因为 31 个（97%）突变阳性结节在手术后被诊断为恶性。细胞学和分子检测的结合显示出诊断准确性的显着提高，并且可以更好地预测细胞学不确定的结节的恶性肿瘤。结论：这些结果表明，可以在临床环境中有效地对甲状腺结节进行一组突变的分子检测。它提高了 FNA 细胞学检查的准确性，对于细胞学检查不确定的甲状腺结节特别有价值。 (临床内分泌代谢杂志 94: 2092-2098, 2009)
Context: Thyroid nodules are common in adults, but only a small fraction of them are malignant. Fine-needle aspiration (FNA) with cytological evaluation is the most reliable tool for cancer diagnosis in thyroid nodules. However, 10-40% of nodules are diagnosed as indeterminate by cytology, making it difficult to optimally manage these patients.Objective: The aim of this study was to establish the feasibility and role of testing for tumor-specific mutations in improving the FNA diagnosis of thyroid nodules.Design: The prospective study included 470 FNA samples of thyroid nodules from 328 patients. At the time of aspiration, a small portion of the material was collected and tested for BRAF, RAS, RET/PTC, and PAX8/PPAR gamma mutations. The mutational status was correlated with cytology and either surgical pathology diagnosis or follow-up (mean, 34 months).Results: A sufficient amount of nucleic acids were isolated in 98% of samples. Thirty-two mutations were found, including 18 BRAF, eight RAS, five RET/PTC, and one PAX8/PPAR gamma. The presence of any mutation was a strong indicator of cancer because 31 (97%) of mutation-positive nodules had a malignant diagnosis after surgery. A combination of cytology and molecular testing showed significant improvement in the diagnostic accuracy and allowed better prediction of malignancy in the nodules with indeterminate cytology.Conclusions: These results indicate that molecular testing of thyroid nodules for a panel of mutations can be effectively performed in a clinical setting. It enhances the accuracy of FNA cytology and is of particular value for thyroid nodules with indeterminate cytology. (J Clin Endocrinol Metab 94: 2092-2098, 2009)