Na Jong-In, Kim Jo-Heon, Kim Hye-Jeong, Kim Hee-Kyung, Moon Kyung-Sub, Lee Ji-Shin, Lee Jae-Hyuk, Lee Kyung-Hwa, Park Jong-Tae
Department of Pathology, Chonnam National University Medical School, #5 Hak-dong, Dong-gu, Gwang-ju, 501-746, South Korea.
Virchows Arch. 2015 Aug;467(2):155-68. doi: 10.1007/s00428-015-1773-0. Epub 2015 Apr 19.
The BRAF V600E mutation is a valuable prognostic factor in thyroid carcinoma despite lingering debate. Successful immunohistochemical (IHC) detection of the BRAF V600E mutation using a VE1 antibody was introduced recently. The objective of this study was to verify the usefulness of IHC detection of the BRAF V600E mutation in thyroid carcinoma using the VE1 antibody. IHC detection of BRAF V600E was performed on various thyroid carcinoma subtypes. IHC results were compared with those obtained from real-time polymerase chain reaction (PCR) detection. Discordant cases were re-examined using a direct sequencing method following nested PCR amplification. The BRAF V600E mutation was detected in 68 % (71/104) of papillary carcinoma cases and 78 % (7/9) of anaplastic carcinoma cases. The mutation was not detected in patients with follicular carcinoma (0/18) or in medullary carcinoma (0/21). The overall sensitivity and specificity of IHC using the VE1 antibody were 100 and 94 %, respectively, suggesting that molecular-based results were indeterminable in four VE1-positive cases. IHC using the VE1 antibody is a highly sensitive and specific method for BRAF V600E mutation detection and may represent a future replacement for DNA-based molecular tests.
尽管仍存在争议，但BRAF V600E突变是甲状腺癌中一个有价值的预后因素。最近引入了使用VE1抗体通过免疫组织化学（IHC）成功检测BRAF V600E突变的方法。本研究的目的是验证使用VE1抗体通过IHC检测甲状腺癌中BRAF V600E突变的实用性。对各种甲状腺癌亚型进行了BRAF V600E的IHC检测。将IHC结果与通过实时聚合酶链反应（PCR）检测获得的结果进行比较。对不一致的病例在巢式PCR扩增后使用直接测序法重新检查。在68%（71/104）的乳头状癌病例和78%（7/9）的间变性癌病例中检测到BRAF V600E突变。在滤泡癌患者（0/18）或髓样癌患者（0/21）中未检测到该突变。使用VE1抗体进行IHC的总体敏感性和特异性分别为100%和94%，这表明在4例VE1阳性病例中基于分子的结果无法确定。使用VE1抗体进行IHC是一种用于BRAF V600E突变检测的高度敏感和特异的方法，可能代表未来基于DNA的分子检测的替代方法。
