甲状腺乳头状癌BRAF基因突变的检测及临床意义  

A investigation of BRAF mutation in papillary thyroid carcinoma and its clinical value

作　　者：龚日祥[1] 周扬[1] 罗书画[1] 张林[2] 周斌[2] 

机构地区：[1]四川大学华西医院甲状腺乳腺外科,成都610041 [2]华西第二医院分子与转化医学实验室

出　　处：《中华医学遗传学杂志》2009年第3期310-313,共4页Chinese Journal of Medical Genetics

基　　金：四川省科技厅资助课题（04JY029-077-3）

摘　　要：目的了解甲状腺乳头状癌（papillary thyroid carcinoma，PTC）BRAF基因T1799A点突变的情况与临床病理学特征的关系。方法应用聚合酶链反应及DNA直接测序法对43例PTC患者，20例非PTC甲状腺病变患者及40份正常甲状腺组织对照的新鲜标本进行BRAF基因检测。分析BRAF基因突变与性别、发病年龄、原发灶大小、甲状腺包膜外浸润、颈淋巴结转移及远处转移等临床病理学特征的关系。结果43例PTC中17例检出BRAF基因T1799A点突变。检出率为39．5％，而在非PTC甲状腺病变患者和40份正常甲状腺组织未发现T1799A点突变。BRAF基因突变与PTC甲状腺包膜外浸润及颈淋巴结转移密切相关（P〈0．05及P〈0．05），与性别、发病年龄、原发灶大小及远处转移无关。结论BRAF基因突变与颈淋巴结转移和甲状腺包膜外浸润密切相关，突变可能增加PTC的侵袭性并影响预后。Objective To study the relationship between BRAF mutation and clinicopathological features in papillary thyroid carcinoma （PTC）. Methods Fresh samples were examined for the presence of BRAF mutations in 43 patients with PTC and 20 patients with non-PTC thyroid disease and 40 normal thyroid tissues by polymerase chain reaction （PCR） and direct sequencing. The relationship between BRAF mutation and clinicopathological features was studied. Results BRAF mutation was detected in 39. 5~ （17/43） of PTC samples, in 0 of non PTC thyroid disease samples and normal thyroid tissues. Significant association was seen between BRAF mutation and both extrathyroidal invasion and cervical lymph node metastasis （P~ 0. 05, P ~ 0. 05）. There was no significant relationship between BRAF mutation and gender, age at the time of diagnosis, tumor size and distant metastasis. Conclusion BRAF mutation is associated with extrathyroidal invasion and lymph node metastasis. It may increase the ability of invasion and metastasis of PTC and have influence on prognosis.

关 键 词：BRAF基因 突变 甲状腺乳头状癌 

分 类 号：R686[医药卫生—骨科学]