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目的探讨BRAF V600E点突变在甲状腺微小乳头状癌(PTMC)和甲状腺良性病变中的表达状况,并评估其在PTMC中的早期诊断价值。方法采用基于实时荧光定量PCR技术的扩增阻滞突变系统(ARMS)法检测并比较104例PTMC和42例甲状腺良性病变中BRAF V600E点突变的表达差异,分析BRAF V600E点突变与PTMC临床病理特征的相关性,计算BRAF V600E点突变对鉴别PTMC及甲状腺良性病变的各项临床诊断指标。结果 104例PTMC的BRAF V600E点突变率为83.65%,而42例甲状腺良性病变的突变率仅为2.38%,BRAF V600E点突变率在2组间差异有统计学意义(χ2=82.531,P<0.05)。BRAF V600E点突变与PTMC患者的性别、年龄、肿瘤大小、病灶数目、双侧累及、被膜侵犯、淋巴结转移及TNM分期均无相关性(P>0.05)。ARMS法检测BRAF V600E点突变对诊断PTMC的敏感度为83.65%,特异度为97.62%,准确度为87.67%,约登指数为0.812 7,阳性预测值为98.86%,阴性预测值为70.69%。结论 BRAF V600E点突变是诊断PTMC的重要标记物,基于实时荧光定量PCR的ARMS法检测BRAF V600E点突变对PTMC具有良好的早期诊断价值。
Objective To investigate the expression of BRAF V600E point mutation in thyroid papillary carcinoma (PTMC) and thyroid benign lesions and to evaluate its early diagnostic value in PTMC. Methods The differential expression of BRAF V600E in 104 cases of PTMC and 42 cases of thyroid benign lesions were detected by ARMS method based on real-time fluorescence quantitative PCR. The relationship between BRAF V600E point mutation and clinicopathological features of PTMC Of the correlation, calculated BRAF V600E point mutation in the differential diagnosis of PTMC and thyroid benign lesions of the clinical diagnostic indicators. Results The mutation rate of BRAF V600E in 104 cases was 83.65%, while the mutation rate in 42 cases of thyroid benign lesions was only 2.38%. The point mutation rate of BRAF V600E in the two groups was statistically significant (χ2 = 82.531, P <0.05 ). The point mutation of BRAF V600E had no correlation with gender, age, tumor size, number of lesions, bilateral involvement, invasion of membrane, lymph node metastasis and TNM staging in PTMC patients (P> 0.05). The sensitivity, specificity and accuracy of BRAS V600E ARBR to diagnose PTMC were 83.65%, 97.62%, 87.67%, 9.0127, 0.88127 respectively. The positive predictive value was 98.86% and the negative predictive value was 70.69%. Conclusion The point mutation of BRAF V600E is an important marker for diagnosis of PTMC. The detection of point mutation of BRAF V600E by ARMS based on real-time fluorescence quantitative PCR has a good early diagnostic value for PTMC.