【摘要】 目的 探讨分子突变类型检测在甲状腺结节诊断中的应用。方法 选取2019年10月至2021年10月阳江市人民医院收治的1600例甲状腺结节患者为研究对象，均进行细针穿刺活检（FNA），穿刺标本分别行病理学检查和分子诊断技术检测，将术前穿刺病理、分子技术诊断提示有手术指征的患者行手术治疗，并进行术后病理检查；对无手术指征患者随访12个月。比较分析术前穿刺病理、术前分子诊断技术、术后病理、随访结果，分析分子技术在甲状腺结节诊断中的应用价值。结果 1600例患者中符合手术指征并采取手术治疗的有968例，术前FNA检查良性病灶检出1255例，检出率为78.44%（1255/1600）；术前FNA检查恶性病灶检出345例，检出率为21.56%（345/1600），其中术后病理检查恶性病灶有281例。分子检查352例发生基因突变，占36.36%，包括69例良性结节（19.60%）,283例恶性结节（80.40%），以单一BRAF^V600E突变为主（73.86%），分子诊断技术的敏感度、特异度、准确度、阳性预测值、阴性预测值分别为84.98%、89.13%、87.71%、80.40%和91.88%。术前分子诊断技术与术前FAN检查准确率比较差异无统计学意义（χ²=0.109,P> 0.05）。FNA检查联合分子诊断结果敏感度、特异度、准确度、阳性预测值、阴性预测值分别是96.99%、95.43%、95.97%、91.76%和98.38%。术前FNA检查与FNA检查联合分子诊断效能比较差异有统计学意义（P <0.05）。结论 分子突变类型检测在诊断甲状腺结节性质上弥补了FNA检测的不足，分子诊断技术联合FNA有助于指导甲状腺癌风险分层及预后评估，优化初始治疗方案。更多还原

【Abstract】 Objective To explore the application of molecular mutation type detection in the diagnosis of thyroid nodules. Methods A total of 1600 patients with thyroid nodules admitted to the People’s Hospital of Yangjiang from October 2019 to October 2021 were selected as the research subjects. Fine needle aspiration biopsy（FNA） was performed on these 1600 cases, and pathological examination and molecular diagnostic technology detection were performed on the biopsy specimens, respectively. Malignant or benign patients with surgical indications indicated by preoperative biopsy pathology and molecular diagnosis were treated with surgery, and postoperative pathological examinations were performed; Patients with no surgical indications were followed up for 12 months. The preoperative biopsy pathology, preoperative molecular diagnostic technology, postoperative pathology, and follow-up results were compared and analyzed, and the application value of molecular technology in the diagnosis of thyroid nodules was analyzed. Results Among the 1600 patients, 968 met the surgical indications and underwent surgical treatment. 1255 cases of benign lesions were detected by preoperative FNA examination, with a detection rate of 78.44%（1255/1600）. 345 cases of malignant lesions were detected by preoperative FNA examination, with a detection rate of 21.56%（345/1600）. Among them, 281 cases were diagnosed as malignant lesions by postoperative pathological examination. 352 cases（36.36%） underwent molecular examination for genetic mutations, including 69 benign nodules（19.60%） and 283 malignant nodules（80.40%）, with a single BRAF^V600E mutation predominating（73.86%）. The sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of molecular mutation detection technology were 84.98%, 89.13%, 87.71%, 80.40%, and 91.88%, respectively. The accuracy between preoperative molecular diagnostic technology and preoperative FAN examinations was compared, without statistically significant difference（χ²=0.109, P > 0.05）. The sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of FNA examinations combined with molecular diagnosis were 96.99%, 95.43%, 95.97%, 91.76%, and 98.38%, respectively. The efficacy of preoperative FNA examination and FNA examination combined with molecular diagnosis was compared, with statistically significant difference（P < 0.05）. Conclusion Molecular mutation type detection compensates for the shortcomings of FNA detection in the diagnosis of thyroid nodules. The combination of molecular diagnostic technology with FNA can help guide the risk stratification and prognosis evaluation of thyroid cancer and optimize the initial treatment plan.更多还原