Zhu Xiao-li, Zhou Xiao-yan, Zhu Xiong-zeng
Department of Pathology, Cancer Hospital of Fudan University, Shanghai 200032, China.
Zhonghua Bing Li Xue Za Zhi. 2005 May;34(5):270-4.
To detect the BRAF(V599E) mutation and the RET/PTC chimeric gene in benign and malignant thyroid diseases and to explore their correlation with the clinicopathologic features of papillary thyroid carcinoma (PTC).
PCR and RT-PCR were employed to detect BRAF(V599E) mutation and RET/PTC chimeric genes in 95 frozen and parraffine-embeded thyroid tissue.
(1) BRAF(V599E) mutation was detected only in PTC (56%, 37/66) and had a high prevalence in both classic and tall cell types (70%, 29/41 and 2/3). However, follicular types of PTC and other benign and malignant thyroid diseases were negative for BRAF(V599E) mutation. (2) Fourteen (21.2%) PTC cases expressed RET/PTC chimeric gene. Among them, 5 cases (7.6%) were RET/PTC1 and 9 cases (13.6%) were RET/PTC3 respectively. (3) Statistic data did not show any correlation between the BRAF(V599E) mutation, RET/PTC and clinicopathologic features of PTC (P > 0.05). There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements.
(1) BRAF(V599E) mutation and RET/PTC rearrangements were unique to PTC. The high prevalence of BRAF(V599E) mutation indicates that it is an important molecular hallmark of PTC. (2) BRAF(V599E) mutation rate was high in classic type PTC and tall cell type inferred that BRAF(V599E) mutation played an important role in their etiopathogenesis. (3) There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements suggest that they are alternative events in PTC.
检测良性和恶性甲状腺疾病中的BRAF（V599E）突变及RET/PTC嵌合基因，并探讨它们与甲状腺乳头状癌（PTC）临床病理特征的相关性。
采用PCR和RT-PCR检测95例冷冻及石蜡包埋的甲状腺组织中的BRAF（V599E）突变及RET/PTC嵌合基因。
（1）BRAF（V599E）突变仅在PTC中检测到（56%，37/66），在经典型和高细胞型中均有较高的发生率（70%，29/41和2/3）。然而，滤泡型PTC及其他良性和恶性甲状腺疾病的BRAF（V599E）突变为阴性。（2）14例（21.2%）PTC病例表达RET/PTC嵌合基因。其中，5例（7.6%）为RET/PTC1，9例（13.6%）为RET/PTC3。（3）统计数据显示BRAF（V599E）突变、RET/PTC与PTC的临床病理特征之间无相关性（P>0.05）。BRAF（V599E）突变与RET/PTC重排之间无重叠。
（1）BRAF（V599E）突变和RET/PTC重排是PTC所特有的。BRAF（V599E）突变的高发生率表明它是PTC的一个重要分子标志。（2）经典型PTC和高细胞型中BRAF（V599E）突变率较高，提示BRAF（V599E）突变在其发病机制中起重要作用。（3）BRAF（V599E）突变与RET/PTC重排之间无重叠，提示它们是PTC中的替代事件。
