细针穿刺活检结合分子检测在甲状腺结节鉴别诊断中的研究进展

Combination of ultrasound guided fine needle aspiration biopsy and molecular analysis for the differential diagnosis of thyroid nodules

近年来,甲状腺乳头状癌(papillary thyroid carcinoma,PTC)的发病率逐年上升,超声影像成为甲状腺癌筛查与诊断的首选检查手段。超声引导下的细针穿刺细胞学检查(ultrasound guided fine needle aspiration biopsy,US-FNAB)成为术前鉴别诊断甲状腺结节的有效微创介入方法,并通过Bethesda诊断系统分类。虽然细针穿刺细胞学检查具有较高的灵敏度和特异性,但是仍然出现诊断不明确的非典型滤泡性病变。对于此类非典型病变(BethesdaⅢ~Ⅴ类),US-FNAB联合基因突变检测(BRAF、RAS以及RET/PTC重排),以及miRNA分析能够显著提高不确定结节的诊断准确性,有利于临床规范化处理甲状腺良恶性结节。

Recently, the incidence of papillary thyroid carcinoma（PTC） has been increasing yearly. Ultrasonography is considered the first tool in the screening and diagnosis of thyroid nodules. Ultrasound-guided fine needle aspiration（US-FNA） biopsy is an effective,minimally invasive intervention for the differential diagnosis of thyroid nodules before operation. The diagnosis of US-FNA is classified by the Bethesda diagnostic system. Although fine needle aspiration cytology has high sensitivity and specificity, unclear diagnoses,such as atypical follicular lesions, are still existed. US-FNA combined with genetic mutation analysis（BRAF, RAS, and RET/PTC rearrangement） for such atypical lesions（Bethesda Ⅲ-Ⅴ）, as well as microRNA analysis, can significantly improve the diagnostic accuracy of indefinite nodules. This process facilitates standardized clinical management of benign and malignant thyroid nodules.