Lu Haizhen, Qiu Tian, Ying Jianming, Guo Changyuan, Lyn Ning
Department of Pathology, Chinese Academy of Medical Science Cancer Hospital, Beijing 100021, China.
Department of Pathology, Chinese Academy of Medical Science Cancer Hospital, Beijing 100021, China. E-mail:
Zhonghua Bing Li Xue Za Zhi. 2014 Dec;43(12):794-8.
To study the prevalence of the BRAF V600E mutation in papillary thyroid carcinoma (PTC) and its association with clinicopathologic features.
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 the χ(2) test or Fisher exact test as appropriate.
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).
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.
研究BRAF V600E突变在甲状腺乳头状癌（PTC）中的发生率及其与临床病理特征的关系。
选取2010年12月至2012年12月在中国医学科学院肿瘤医院接受手术的292例原发性PTC患者纳入研究。采用聚合酶链反应从石蜡包埋的甲状腺肿瘤标本中扩增BRAF基因第15外显子，随后直接测序检测BRAF V600E突变。使用SPSS 16.0 for Windows进行统计分析。根据情况采用χ(2)检验或Fisher精确检验来检测BRAF突变与临床病理参数之间的关联。
该队列中有87例男性和205例女性。患者年龄范围为13至84岁（平均 = 43.1岁）。190例（65.1%）检测到BRAF V600E突变。BRAF V600E突变的存在与诊断时的年龄（大于45岁）、肿瘤体积（大于1 cm）、甲状腺外侵犯、经典型/高细胞变体及疾病晚期相关（P < 0.05）。BRAF V600E突变与性别、多中心性、淋巴结转移或解剖位置无显著相关性（P > 0.05）。
BRAF V600E突变与PTC患者的高危临床病理特征相关。BRAF V600E突变可能是PTC患者的一个潜在预后因素。
