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目的 观察青岛地区甲状腺乳头状癌(PTC) BRAF T1799A基因突变及RET/PTC基因重排的发生情况；检测癌组织中血小板源性生长因子B (PDGF-B)的表达,研究基因突变与PDGF-B的关系.方法 收集48例PTC患者新鲜PTC组织,采用PCR分别扩增BRAF、RET/PTC1、RET/PTC3基因,产物经测序证实.采用免疫组化方法检测肿瘤组织中PDGF-B的表达.结果 48例PTC中微小癌14例(29.2％)；18例发生BRAF T1799A基因突变,突变率为37.5％；23例发生RET/PTC重排,重排率为47.9％,其中RET/PTC1有17例(35.4％),RET/PTC3有6例(12.5％),未见两种重排形式共存；在乳头状非微小癌中有6例同时发生BRAF和RET/PTC变异(12.5％).发生BRAF T1799A基因突变者的PDGF-B表达强度高于非突变者；发生RET/PTC3重排者的PDGF-B表达强度高于RET/PTC1患者(P＜0.05).肿瘤分期越高,PDGF-B的表达越强(P＜0.01).结论 (1)青岛地区PTC患者BRAF T1799A基因突变和RET/PTC基因重排的发生率较高.(2) BRAF T1799A及RET/PTC3基因变异阳性的PTC患者较阴性者预后不良.(3)BRAF和RET/PTC基因变异可能通过增强PDGF-B表达影响肿瘤的发生、发展,两种基因重叠变异预示肿瘤预后不良.

Objective 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.Methods 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.Results 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.Conclusions 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.