BRAF基因突变检测在甲状腺乳头状病变中的临床意义

目的探讨BRAF基因在甲状腺乳头状病变中的突变情况及临床意义。方法提取石蜡肿瘤组织中DNA,采用直接测序法分析24例甲状腺乳头状癌和30例甲状腺不典型乳头状腺瘤石蜡组织中BRAF基因突变的情况。结合临床资料进一步分析。结果 24例甲状腺乳头状癌,16例发现BRAF基因15外显子第600位密码子A/T杂合（V600E）,突变率为66.7%（16/24）。而30例甲状腺不典型腺瘤中未发现V600E病理性突变（0/30）。结论 BRAF V600E位点突变仅见于甲状腺乳头状癌,具有一定的特异性,可以用于帮助临床甲状腺乳头状增生良恶性的鉴别。

Clinical Significance of the Detection of BRAF Gene Mutation in Papillary Thyroid Lesions

Objective To investigate the BRAF gene mutation in papillary thyroid lesions and its clinical significance. Methods Genomic DNA from formalin-fixed paraffin-embedded （FFPE） thyroid tumor tissues were extracted from 24 papillary thyroid carcinoma tissues and 30 atypical thyroid papillary adenoma samples. And BRAF gene mutation was determined by direet sequencing method and analyzed further by combining the clinical data. Results In 24 papillary thyroid carcinoma samples, 16 were found with codon 600th A/T heterozygous （V600E） in exon 15 of BRAF gene, the mutation rate of BRAF V6OOE was 66.7% （16/24）. While no V600E pathogenic mutation was identified in 30 atypical papillary adenoma samples （0/30）. Conclusion BRAF V6OOE mutation is only found in papillary thyroid carcinoma, which has certain specificity, and can be used to help differentiate the benign from the malignant thyroid papillary hyperplasia in clinical practice.