Objective: To evaluate the utility of the BRAF(V600E) mutation detection in different cytoloy categories and to determine if the VE1 antibody can serve as a screening tool for the detection of BRAF(V)600E mutation in thyroid fine needle aspiration (FNA) specimens. Methods: A total of 273 FNA residual specimens were collected. BRAF(V600E) testing was performed on these liquid-based specimens. And also 78 specimens with enough residual cells were stained with VE1 antibody. Comparisons of molecular and immunocytochemistry results with clinicopathological outcomes were performed. SPSS 17.0 software was used to analyze the data. Results: There were 70 indeterminated diagnoses in 273 cases with FNAs. Fifty-eight cases were proven to be papillary thyroid carcinoma (PTC) by histology, including 9 cases of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS), 3 cases of follicular neoplasm/suspicious for follicular neoplasm (FN/SFN), and 46 cases of suspicious for malignancy (SM). BRAF(V600E) analysis detected PTC in 3 of 9 cases with AUS/FLUS, and in 31 (67.4%) of 46 cases with SM. The sensitivity of immunostaining with VE1 antibody was 62.8%(27/43) and the specificity was 91.4% (32/35). VE1 expression showed moderately concordance with the molecular mutation (κ=0.524, P<0.001). Conclusions: Additional BRAF(V600E) detecting can improve the diagnostic efficacy for PTC in AUS/FLUS and SM. VE1 expression may be an alternative method for BRAF(V600E) detecting when molecular detecting is unavailable.
目的： 评价BRAF(V600E)基因检测对不同诊断级别的甲状腺细针穿刺（fine needle aspiration，FNA）病例辅助诊断的意义；探讨甲状腺FNA液基标本中BRAF蛋白（VE1）免疫细胞化学能否作为识别BRAF(V600E)基因突变的方法。 方法： 收集在中国医学科学院肿瘤医院行甲状腺FNA检查，并有剩余细胞学液基标本的病例273例，应用聚合酶链反应进行BRAF(V600E)基因检测，同时对其中78例细胞量充足的病例应用免疫细胞化学的方法进行VE1蛋白的检测，并与临床病理结果进行对比分析。使用SPSS17.0对数据进行统计分析。 结果： 在273例FNA病例中，细胞学明确诊断203例，不明确70例。联合BRAF(V600E)检测，可以使9例诊断为意义不明的非典型细胞中的3例（3/9）和46例可疑甲状腺乳头状癌中的31例（67.4%）确诊为甲状腺乳头状癌。VE1蛋白表达的灵敏度为62.8%（27/43），特异度为91.4%（32/35）。与BRAF(V600E)基因有中等程度的一致性（κ=0.524，P<0.05）。 结论： 对细胞学诊断为意义不明的非典型细胞和可疑癌病例联合BRAF(V600E)检测可以增加甲状腺乳头状癌的诊断率；对于无法进行基因检测的病例，VE1免疫细胞化学可以作为识别BRAF(V600E)突变的方法。.
Keywords: Biopsy, fine-needle; Carcinoma, papillary; Cytological techniques; Proto-oncogene proteins B-raf; Thyroid neoplasms.