Department of Radiology, Research Institute of Radiological Science, Yonsei University College of Medicine, Seoul, Korea.
Ann Surg Oncol. 2011 Mar;18(3):792-9. doi: 10.1245/s10434-010-1354-z. Epub 2010 Oct 14.
We investigated the diagnostic value of the BRAF(V600E) mutation of thyroid nodules according to ultrasonography (US) features and the time of BRAF(V600E) mutation analysis.
A total of 304 nodules in 295 patients (mean age, 49.4 years) were included. Thyroid nodules were classified as suspicious or probably benign on US. Group 1 (n = 168) included nodules with BRAF(V600E) mutation analysis at the time of the initial US-guided fine needle aspiration biopsy (US-FNAB) and group 2 (n = 136) included nodules with analysis at the time of the repeat US-FNAB. The frequency of malignancy and the BRAF(V600E) mutation were compared between suspicious and probably benign nodules on US and between groups 1 and 2.
Of 304 nodules, 113 were malignant and 59 (52.2%) had the BRAF(V600E) mutation. Also, 58 of 196 nodules suspicious on US (29.6%) had the BRAF(V600E) mutation, whereas 1 of 108 (0.9%) probably benign nodules had the BRAF(V600E) mutation (P value <.0001). The BRAF(V600E) mutation was more frequently found in nodules suspicious on US than those probably benign in both groups 1 and 2 (P value <.0001 and .0058, respectively). Preoperative detection of the BRAF(V600E) mutation led surgeons to perform surgery in 5.8% of 103 nodules with benign and nondiagnostic results on cytology in group 1 and 1% of 98 nodules in group 2 without treatment delay.
The BRAF(V600E) mutation analysis was a useful adjunctive diagnostic tool, especially in nodules suspicious on US, and was more effective if performed at the time of the initial US-FNAB.
我们根据超声（US）特征和 BRAF(V600E) 突变分析时间，研究了甲状腺结节 BRAF(V600E) 突变的诊断价值。
共纳入 295 例患者的 304 个结节（平均年龄 49.4 岁）。根据 US 将甲状腺结节分为可疑或可能良性。第 1 组（n=168）包括在初始 US 引导下细针抽吸活检（US-FNAB）时进行 BRAF(V600E) 突变分析的结节，第 2 组（n=136）包括在重复 US-FNAB 时进行分析的结节。比较 US 可疑与可能良性结节、第 1 组和第 2 组之间的恶性肿瘤发生率和 BRAF(V600E) 突变情况。
304 个结节中，113 个为恶性，59 个（52.2%）存在 BRAF(V600E) 突变。另外，在 196 个 US 可疑的结节中，有 58 个（29.6%）存在 BRAF(V600E) 突变，而在 108 个可能良性的结节中，仅有 1 个（0.9%）存在 BRAF(V600E) 突变（P 值<.0001）。在第 1 组和第 2 组中，US 可疑的结节中 BRAF(V600E) 突变的发生率均高于可能良性的结节（P 值均<.0001 和.0058）。第 1 组中，对于细胞学检查结果为良性和非诊断性的 103 个结节和第 2 组中无需治疗延迟的 98 个结节，术前 BRAF(V600E) 突变的检测导致 5.8%和 1%的结节进行了手术。
BRAF(V600E) 突变分析是一种有用的辅助诊断工具，尤其是在 US 可疑的结节中，如果在初始 US-FNAB 时进行，则效果更好。
