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目的:探讨术前超声引导下细针抽吸细胞学检查(US-FNAB)联合BRAFT1799A突变、RET/PTC1及RET/PTC3重排对诊断甲状腺乳头状癌(PTC)的特异性及敏感性,为临床术前准确诊断PTC选择适用的分子标记物。方法:收集346个超声怀疑为甲状腺恶性结节的US-FNAB细胞标本及对应结节(152个)的术后新鲜组织,采用PCR分别扩增BRAFT1799A、RET/PTC1及RET/PTC3基因,产物经基因测序证实。结果:346个甲状腺术前穿刺的结节中,选择观察而未手术的结节192个,手术治疗152个,未接受手术建议的结节2个。术前US-FNAB的细胞标本中共检测到51个结节发生BRAFT1799A突变,其细胞学分类为36个恶性,11个可疑恶性,4个良性。该51个结节术后病理证实均为PTC。20个发生RET/PTC1重排,其术前细胞学结果为17个恶性,2个可疑恶性,1个滤泡性肿瘤或可疑滤泡性肿瘤,术后病理证实均为PTC。3个结节发生RET/PTC3重排,其术前细胞学结果为恶性,术后病理证实均为PTC。对45个术前US-FNAB标本检测BRAFT1799A突变阴性而术后病理证实为PTC的结节,将其对应结节的术中组织行该基因的检测,仅有1个结节的术后组织中检测到该突变。本研究中,术前US-FNAB联合多分子标志物的检测,将细胞学诊断PTC的敏感度由73.96%提高到92.71%。结论:术前US-FNAB联合多分子标志物的检测可提高其诊断PTC的敏感性及特异性,并有助于患者的个体化诊治。
Objective: To investigate the specificity and sensitivity of preoperative ultrasound-guided fine needle aspiration cytology (US-FNAB) combined with BRAFT1799A mutation, RET / PTC1 and RET / PTC3 rearrangements in the diagnosis of papillary thyroid carcinoma (PTC). Clinical preoperative diagnosis of PTC selection of suitable molecular markers. METHODS: A total of 346 US-FNAB cells suspected of thyroid malignancy and fresh postoperative tissue corresponding to nodules (152) were collected. PCR products of BRAFT1799A, RET / PTC1 and RET / PTC3 were amplified by PCR. Gene sequencing confirmed. RESULTS: Of the 346 thyroid preoperatively punctured nodules, 192 were selected for observation and no surgery, 152 were surgically treated and 2 were not recommended for surgery. A total of 51 nodules were detected in the preoperative samples of US-FNAB. BRAFT1799A mutation was detected. The cytology classification was 36 malignant, 11 suspicious and 4 benign. The 51 nodules were pathologically confirmed as PTC. Twenty RET / PTC1 rearrangements occurred with preoperative cytopathologic results of 17 malignant, 2 suspicious malignant, 1 follicular or suspicious follicular tumors and postoperative pathology confirmed as PTC. RET / PTC3 rearrangement occurred in 3 nodules, and the preoperative cytology results were malignant. Postoperative pathology was confirmed as PTC. 45 cases of preoperative US-FNAB specimens detected BRAFT1799A mutation negative and postoperative pathology confirmed as PTC nodules, the corresponding nodules in the organization of the line detection of the gene, only one nodule in the postoperative tissue The mutation was detected. In this study, preoperative US-FNAB combined with multi-molecular markers in the detection of cytological sensitivity of PTC increased from 73.96% to 92.71%. Conclusion: The preoperative US-FNAB combined with multi-molecular markers can increase the sensitivity and specificity of the diagnosis of PTC and contribute to the individual diagnosis and treatment of patients.