甲状腺乳头状癌中BRAF^(V600E)点突变的研究

Study of BRAF^(V600E) mutation in papillary thyroid cancer

目的:探讨BRAFV600E点突变与甲状腺乳头状癌(PTC)及其临床病理学特征之间的关系。方法:采用突变等位基因特异性扩增法(MASA-PCR)检测108例甲状腺石蜡包埋组织中BRAFV600E点突变(包括83例甲状腺癌,11例甲状腺腺瘤,13例结节性甲状腺肿和1例癌旁正常组织)。结果:仅在PTC和1例甲状腺未分化癌中检测到BRAFV600E突变,PTC中突变率为66.7%(48/72),主要见于经典型PTC和微小癌,其突变率分别为72.6%(45/62)和66.7%(2/3),在其它类型的甲状腺良恶性病变中均未检测到BRAFV600E突变。40岁以上患者的BRAFV600E突变率显著高于40岁以下者,而与性别、淋巴结转移、慢性淋巴细胞浸润无显著关系。结论:BRAFV600E突变仅发生于PTC和部分未分化癌,是PTC中较常见的遗传学事件,为PTC的发生机制提供新思路。BRAFV600E突变主要见于经典型PTC和微小癌,可能是甲状腺乳头状癌表型的重要决定因素之一。

Objective:To explore the frequency of BRAFV600E mutation in PTC and its correlation with the clinicopathologic features of PTC.Methods:MASA-PCR was performed in formalin-fixed,paraffin-embedded biopsy samples in 108 cases thyroid disease,which included 83 cases of thyroid caicinoma,11 cases of follicular adenomas,13 cases of benign nodular goiters and 1 case of normal tissue beside caicinoma.Results:BRAFV600E mutation was detected only in PTC(66.7%,48/72)and had a high prevalence in both classic of PTC and ...