Wang Ping, Wang Yan-gang, Zhao Wen-juan, Fu Yu-dong, Wang Luan, Wang Fang, Zhao Shi-hua
Department of Endocrinology, Qingdao University, Qingdao, China.
Zhonghua Nei Ke Za Zhi. 2012 Dec;51(12):987-91.
To investigate the prevalence of BRAF T1799A mutation and RET/PTC rearrangement in Qingdao and detect the expression of platelet-derived growth factor B (PDGF-B) in order to investigate the correlation between gene mutation and PDGF-B.
Fresh tissue from 48 papillary thyroid carcinomas (PTC) patients was examined for BRAF mutation RET rearrangements (RET/PTC1 and RET/PTC3) by PCR, followed by direct-sequence analysis. The expression of PDGF was analyzed by immunohistochemistry.
Among the 48 patients, 14 (29.2%) were micro PTC; 18 (37.5%) had BRAF T1799A mutations and 23(47.9%) had RET/PTC rearrangement. There were 17 (35.4%) cases of RET/PTC1 and 6 (12.5%) of RET/PTC3, with no multiple rearrangements. Both BRAF T1799A mutation and RET/PTC rearrangement were present in 6 (12.5%) cases of non-micro PTC. The level of PDGF-B expression in BRAF T1799A positive was higher than that in the negative, and the level of PDGF-B expression in RET/PTC3 was higher than that in RET/PTC1 (P < 0.05). The more advanced neoplasm stage was, the stranger PDGF-B expression was.
The incidence of BRAF T1799A mutation and RET/PTC rearrangement is higher in Qingdao. BRAF T1799A mutation and RET/PTC3 rearrangement in patients suggests a poorer prognosis than the negative one. The BRAF T1799A mutation and RET/PTC3 rearrangement may strengthen the expression of PDGF-B. Both variations suggest a poor prognosis.
研究青岛地区甲状腺乳头状癌(PTC)中BRAF T1799A突变和RET/PTC重排的发生率,并检测血小板源性生长因子B(PDGF-B)的表达,以探讨基因突变与PDGF-B之间的相关性。
采用聚合酶链反应(PCR)及直接测序分析48例PTC患者新鲜组织中的BRAF突变及RET重排(RET/PTC1和RET/PTC3)。采用免疫组织化学法分析PDGF的表达。
48例患者中,微小PTC 14例(29.2%);BRAF T1799A突变18例(37.5%),RET/PTC重排23例(47.9%)。其中RET/PTC1 17例(35.4%),RET/PTC3 6例(12.5%),无多重重排。非微小PTC中6例(12.5%)同时存在BRAF T1799A突变和RET/PTC重排。BRAF T1799A阳性组PDGF-B表达水平高于阴性组,RET/PTC3组PDGF-B表达水平高于RET/PTC1组(P<0.05)。肿瘤分期越晚,PDGF-B表达越强。
青岛地区BRAF T1799A突变和RET/PTC重排的发生率较高。患者存在BRAF T1799A突变和RET/PTC3重排提示预后较阴性者差。BRAF T1799A突变和RET/PTC3重排可能增强PDGF-B的表达。两种变异均提示预后不良。