摘要目的：检测BRAF V600E基因在甲状腺乳头状癌中的突变，评价与各项临床病理指标的关系。方法收集中国医学科学院肿瘤医院2010年12月至2012年12月原发性甲状腺乳头状癌292例，复阅病理切片，收集临床病理信息。石蜡包埋肿瘤组织提取DNA，经PCR扩增后直接测序。应用SPSS 16软件对比BRAF基因突变与各项临床病理指标关系。结果292例原发性甲状腺乳头状癌，男性87例，女性205例，男女比为1．0∶2．4。年龄范围13～84岁，平均年龄43．1岁。 BRAF基因突变率为65．1％（190／292），与就诊时患者年龄≥45岁、肿瘤直径＞1 cm、甲状腺被膜外侵犯、组织亚型（经典型和高细胞型）及肿瘤分期呈显著相关（ P＜0．05）。与患者性别、肿瘤的解剖部位、多灶性发生及淋巴结转移无相关性（P＞0．05）。结论 BRAF基因突变与多项高危的临床病理指标相关，提示其可能是甲状腺乳头状癌预后相关因子之一，为预后判断提供依据。

abstractsObjective To study the prevalence of the BRAF V600E mutation in papillary thyroid carcinoma ( PTC) and its association with clinicopathologic features.Methods Two hundred and ninety-two patients with primary PTC encountered during the period from December 2010 to December 2012 and underwent surgery in Cancer Hospital, Chinese Academy of Medical Science were enrolled into the study. Polymerase chain reaction was used to amplify exon 15 of the BRAF gene from paraffin-embedded thyroid tumor specimens, followed by direct sequencing to detect the BRAF V600E mutation.Statistical analysis was performed with SPSS 16.0 for Windows. Association between BRAF mutation and clinicopathologic parameters was tested with theχ2 test or Fisher exact test as appropriate.Results There were 87 males and 205 females in the cohort. The age of patients ranged from 13 to 84 years ( mean =43.1 years ) . BRAF V600E mutation was found in 190 cases ( 65.1%) . The presence of BRAF V600E mutation correlated with age at diagnosis (older than 45 years), tumor volume (larger than 1 cm), extrathyroidal extension, classic type/tall-cell variant and advanced disease stage ( P<0.05).BRAF V600E mutation did not correlate significantly with gender, multicentricity, lymph node metastasis or anatomic location ( P >0.05).Conclusion BRAF V600E mutation is associated with high-risk clinicopathologic characteristics in patients with PTC.The BRAF V600E mutation may be a potential prognostic factor in PTC patients.