甲状腺乳头状癌患者BRAF基因V600E检测的意义

目的 评估免疫组化法检测BRAF基因V600E突变对甲状腺乳突状癌的诊断价值，进一步明确BRAF基因V600E突变与甲状腺乳头状癌外扩散的相关性。方法 2011年3月至2014年3月37例经病理确诊甲状腺乳突状癌患者，对于免疫组化染色阳性肿瘤进行染色强度分类。评估年龄、甲状腺外扩散、侵袭淋巴管血管、区域淋巴结转移病理变化。结果 直接测序法显示28例（75.7%）PTC BRAF基因V600E阳性；免疫组化染色显示25（67.6%）BRAF基因V600E阳性。以直接测序法为标准，免疫组化法对BRAF基因V600E特异抗体检测突变的敏感性为89.3%、特异性为100%，阳性预测值为100%，阴性预测值为75.0%。 结论 免疫组化染色是检测甲状腺乳突状癌中BRAF基因V600E突变准确的方法，能够量化BRAF基因V600E表达，预测肿瘤侵袭性。

Significance of BRAF gene V600E mutation in papillary thyroid carcinoma

Objective To evaluate the diagnostic value of BRAF gene V600E mutation for papillary thyroid carcinoma （PTC） and definite further the relationship between of BRAF gene V600E mutation and extrathyroidal extension of PTC. Methods Selecting 37 patients with PTC confirmed by pathology between March 2011 and March 2014,the BRAF gene V600E mutation was detected by direct sequencing and immunohistochemical staining, respectively. The grading of dyeing intensity was performed for the immunohistochemistry staining positive tumor, and its associations with the clinicopathological features including age, extrathyroidal extension, invasion of blood vessels and lymph-vessels, regional lymphatic node metastasis were assessed. Results BRAF gene V600E mutation-positive by direct sequencing was seen in 28 cases （75.7%） ;BRAF gene V600E mutation-positive and BRAF gene V600E mutation-negative were respectively seen in 25 cases（67.6% ） and 12 eases（32.4% ） in 37 PTC patients. As making the direct sequencing method as a standard,the sensitivity and specificity of immunohistochemistry staining method for detecting mutation of BRAF gene V600E specific antibody were 89.3% and 100% ,respectively. The high-intensity staining for immunohistochemistry staining might indicate the extrathyroidal extension of PTC. BRAF gene V600E expression was no significant correlation with clinicopathological features of PTC. Conclusion The immunohistochemistry staining is an accurate method for detecting the BRAF gene V600E mutation in PTC and can quantize the BRAF gene V600E expression and predict the invasiveness of tumor.