Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Republic of Korea.
J Clin Endocrinol Metab. 2010 Aug;95(8):3693-700. doi: 10.1210/jc.2009-2795. Epub 2010 May 25.
The BRAFV600E mutation is highly specific to papillary thyroid carcinoma. A test for this mutation may increase the diagnostic accuracy of fine-needle aspiration cytology (FNAC), especially in a BRAFV600E mutation-prevalent population.
This prospective study enrolled 1074 patients with thyroid nodules who underwent both FNAC and BRAFV600E mutation analysis by dual-priming oligonucleotide (DPO)-based multiplex PCR in FNA specimens.
The ancillary test for BRAFV600E significantly improved the sensitivity of FNA procedure, from 67.5% with FNAC alone to 89.6% with FNAC and the DPO-based multiplex PCR analysis combined. Diagnostic accuracy increased from 90.9 to 96.6%. Nine cases of papillary thyroid carcinoma were detected only by BRAFV600E mutation analysis. Unexpectedly, the preoperative DPO-based multiplex PCR produced five false-positive results, which surgery showed to represent benign nodules.
Molecular testing for the BRAFV600E mutation in FNA thyroid nodule specimens increases diagnostic value when applied in a BRAFV600E mutation-prevalent population. However, when using this potentially powerful technique, we must consider both its strengths and its weaknesses.
BRAFV600E 突变高度特异于甲状腺乳头状癌。该突变的检测可能会提高细针穿刺细胞学（FNAC）的诊断准确性，尤其是在 BRAFV600E 突变流行的人群中。
本前瞻性研究纳入了 1074 例甲状腺结节患者，这些患者均在 FNAC 标本中通过双引物寡核苷酸（DPO）-基于多重 PCR 进行了 BRAFV600E 突变分析。
BRAFV600E 的辅助检测显著提高了 FNAC 检查的敏感性，从单独 FNAC 的 67.5%提高到 FNAC 和 DPO-基于多重 PCR 分析联合的 89.6%。诊断准确性从 90.9%提高到 96.6%。有 9 例甲状腺乳头状癌仅通过 BRAFV600E 突变分析检测到。出乎意料的是，术前 DPO-基于多重 PCR 产生了 5 个假阳性结果，手术显示这些结果代表良性结节。
在 BRAFV600E 突变流行的人群中，对 FNAC 甲状腺结节标本中的 BRAFV600E 突变进行分子检测可提高诊断价值。然而，在使用这种潜在强大的技术时，我们必须考虑其优缺点。
