Department of Otolaryngology Head and Neck Surgery, Division of Head and Neck Cancer Research, Johns Hopkins Medical Institutions, Baltimore, MD 21287-0910, USA.
Head Neck. 2010 Feb;32(2):229-34. doi: 10.1002/hed.21178.
BACKGROUND.: An activating point mutation of the BRAF oncogene results in a V600E amino acid missense mutation found in a majority of papillary thyroid carcinomas (PTC). METHODS.: In this study, 28 matched tumor and serum samples obtained from patients with both benign and malignant thyroid disorders were analyzed for BRAF mutation using a gap-ligase chain reaction technique. RESULTS.: The BRAF mutation was absent in tumor DNA samples obtained from patients with benign adenomas, follicular neoplasms or carcinoma, and thyroid lymphoma. In contrast, 5 of 14 PTC tumors were positive for the BRAF mutation. Moreover, 3 of 14 patients with PTC were positive for BRAF mutation in serum and tumor. Of these 3 patients, 2 had lymph node metastasis and 2 had PTC in background of the Hashimoto's thyroiditis. CONCLUSIONS.: The detection of free circulating mutant BRAF in patients with PTC is possible and future studies are warranted to determine its clinical significance.
BRAF 癌基因的激活点突变导致 V600E 氨基酸错义突变，这种突变存在于大多数甲状腺乳头状癌（PTC）中。
本研究使用缺口连接链反应技术分析了 28 对来自良性和恶性甲状腺疾病患者的配对肿瘤和血清样本中的 BRAF 突变。
良性腺瘤、滤泡性肿瘤或癌和甲状腺淋巴瘤患者的肿瘤 DNA 样本中不存在 BRAF 突变。相反，14 例 PTC 肿瘤中有 5 例存在 BRAF 突变。此外，14 例 PTC 患者中有 3 例在血清和肿瘤中存在 BRAF 突变。这 3 例患者中，2 例有淋巴结转移，2 例有桥本甲状腺炎背景下的 PTC。
在 PTC 患者中检测到游离循环突变 BRAF 是可能的，需要进一步研究以确定其临床意义。
