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目的探讨甲状腺肿瘤石蜡包埋组织中Braf V600E基因突变状态及其与年龄、性别、发病部位、病理组织学分型的关系。方法采用实时荧光PCR技术检测144例甲状腺石蜡组织中Braf V600E基因突变。结果 122例甲状腺癌中发现Braf V600E基因突变77例,突变率为63.1%。Braf V600E基因突变与年龄、性别、肿瘤良恶性、甲状腺微小乳头状癌以及肿瘤大小密切相关(P<0.01),与肿瘤的被膜侵犯及广泛转移有关(P<0.05)。22例良性甲状腺病变组织中Braf V600E基因均未检测到突变。结论 Braf V600E基因可以作为甲状腺良、恶性肿瘤鉴别诊断中的一个重要生物标记物,其在甲状腺乳头状癌中的突变率与患者年龄、性别、肿瘤性质及肿瘤大小有关。
Objective To investigate the mutation status of Braf V600E gene in paraffin-embedded thyroid tumors and its relationship with age, gender, disease location and histopathological classification. Methods The mutation of Braf V600E gene in 144 cases of thyroid paraffin was detected by real-time fluorescence PCR. Results A total of 77 cases of Braf V600E gene mutation were found in 122 thyroid carcinomas, the mutation rate was 63.1%. The mutation of Braf V600E gene was closely related to age and gender, benign and malignant tumors, small papillary thyroid carcinoma and tumor size (P <0.01), which was related to tumor invasion and extensive metastasis (P <0.05). No mutations were detected in Braf V600E gene in 22 cases of benign thyroid lesions. Conclusion The Braf V600E gene can be used as an important biomarker in the differential diagnosis of benign and malignant thyroid tumors. The mutation rate in thyroid papillary carcinoma is related to the age, sex, tumor characteristics and tumor size.