CAJ | 학술논문

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。
목적：탐토BRAF기인재갑상선유두상병변중적돌변정황급림상의의。방법제취석사종류조직중DNA，채용직접측서법분석24례갑상선유두상암화30례갑상선불전형유두상선류석사조직중BRAF기인돌변적정황。결합림상자료진일보분석。결과24례갑상선유두상암，16례발현BRAF기인15외현자제600위밀마자A/T잡합（V600E），돌변솔위66.7%（16/24）。이30례갑상선불전형선류중미발현V600E병이성돌변（0/30）。결론 BRAF V600E위점돌변부견우갑상선유두상암，구유일정적특이성，가이용우방조림상갑상선유두상증생량악성적감별。
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 carci-noma tissues and 30 atypical thyroid papillary adenoma samples. And BRAF gene mutation was determined by direct 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 V600E was 66.7% (16/24). While no V600E pathogenic mutation was identified in 30 atypical papillary adenoma samples (0/30). Conclusion BRAF V600E mutation is only found in papillary thyroid carcinoma, which has certain specificity, and can be used to help differentiate the be-nign from the malignant thyroid papillary hyperplasia in clinical practice.