Oh Hye Seon, Kwon Hyemi, Park Suyeon, Kim Mijin, Jeon Min Ji, Kim Tae Yong, Shong Young Kee, Kim Won Bae, Choi Jene, Kim Won Gu, Song Dong Eun
Division of Endocrinology and Metabolism, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Division of Endocrinology and Metabolism, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
Endocrinol Metab (Seoul). 2018 Mar;33(1):62-69. doi: 10.3803/EnM.2018.33.1.62. Epub 2018 Jan 30.
The BRAF(V600E) mutation is the most common genetic alteration identified in papillary thyroid carcinoma (PTC). Because of its costs effectiveness and sensitivity, direct Sanger sequencing has several limitations. The aim of this study was to evaluate the efficiency of immunohistochemistry (IHC) as an alternative method to detect the BRAF(V600E) mutation in preoperative and postoperative tissue samples.
We evaluated 71 patients who underwent thyroid surgery with the result of direct sequencing of the BRAF(V600E) mutation. IHC staining of the BRAF(V600E) mutation was performed in 49 preoperative and 23 postoperative thyroid specimens.
Sixty-two patients (87.3%) had PTC, and of these, BRAF(V600E) was confirmed by direct sequencing in 57 patients (91.9%). In 23 postoperative tissue samples, the BRAF(V600E) mutation was detected in 16 samples (70%) by direct sequencing and 18 samples (78%) by IHC. In 24 fine needle aspiration (FNA) samples, BRAF(V600E) was detected in 18 samples (75%) by direct sequencing and 16 samples (67%) by IHC. In 25 core needle biopsy (CNB) samples, the BRAF(V600E) mutation was detected in 15 samples (60%) by direct sequencing and 16 samples (64%) by IHC. The sensitivity and specificity of IHC for detecting the BRAF(V600E) mutation were 77.8% and 66.7% in FNA samples and 99.3% and 80.0% in CNB samples.
IHC could be an alternative method to direct Sanger sequencing for BRAF(V600E) mutation detection both in postoperative and preoperative samples. However, application of IHC to detect the BRAF(V600E) mutation in FNA samples is of limited value compared with direct sequencing.
BRAF（V600E）突变是在甲状腺乳头状癌（PTC）中发现的最常见基因改变。由于其成本效益和敏感性，直接桑格测序存在若干局限性。本研究的目的是评估免疫组织化学（IHC）作为术前和术后组织样本中检测BRAF（V600E）突变的替代方法的效率。
我们评估了71例行甲状腺手术且有BRAF（V600E）突变直接测序结果的患者。对49例术前和23例术后甲状腺标本进行BRAF（V600E）突变的免疫组化染色。
62例患者（87.3%）患有PTC，其中57例患者（91.9%）通过直接测序证实存在BRAF（V600E）。在23例术后组织样本中，直接测序在16个样本（70%）中检测到BRAF（V600E）突变，免疫组化在18个样本（78%）中检测到该突变。在24例细针穿刺（FNA）样本中，直接测序在18个样本（75%）中检测到BRAF（V600E），免疫组化在16个样本（67%）中检测到。在
