Department of Radiology, Konkuk University Medical Center, Konkuk University School of Medicine, 4-12, Hwayang-dong, Gwangjin-gu, Seoul 143-914, Korea.
AJR Am J Roentgenol. 2012 Mar;198(3):668-74. doi: 10.2214/AJR.11.7185.
The objective of our study was to evaluate the relationships between BRAF mutation status, sonography findings, and fine-needle aspiration cytology features in patients with papillary thyroid carcinoma (PTC) and to evaluate the diagnostic merits of BRAF mutation status and sonography findings as adjuncts to cytologic diagnoses.
From March 2006 through June 2008, clinicopathologic factors, sonography findings, cytology results, and BRAF mutation status were evaluated in 524 patients (437 women and 87 men) with 553 thyroid nodules; of the 170 malignant nodules, 164 were PTCs. Clinicopathologic factors, sonography findings, and cytology results were correlated with BRAF status. The diagnostic sensitivities and specificities of sonography, cytology, and BRAF analysis and their combinations were compared.
The V600E mutation of BRAF (BRAF(V600E)) was detected in 141 of 170 malignant thyroid nodules (82.9%) (140 PTCs and one follicular variant of PTC). Multiple logistic regression revealed that BRAF status was not associated with sonography features with the exception of a negative relation between BRAF(V600E) and an irregular shape (p = 0.004). An indeterminate cytology result was more frequent for BRAF-negative PTC than BRAF-positive PTC (p = 0.035). By adding BRAF status to cytology, diagnostic sensitivity for PTC was significantly increased (94.1%) as compared with cytology alone (81.8%) (p < 0.001). The triple combination-that is, sonography, cytology, and BRAF analysis-showed higher sensitivity than BRAF plus cytology (98.2% vs 94.1%, respectively) (p < 0.05).
The sonography features of PTC, other than an irregular shape, are not related to BRAF status and the combination of sonography and BRAF testing would increase the diagnostic accuracy of cytologic diagnoses of PTC.
本研究旨在评估甲状腺乳头状癌（PTC）患者 BRAF 突变状态、超声表现与细针穿刺细胞学特征之间的关系，并评估 BRAF 突变状态和超声表现作为细胞学诊断辅助手段的诊断价值。
2006 年 3 月至 2008 年 6 月，对 524 例（437 例女性，87 例男性）553 个甲状腺结节的临床病理因素、超声表现、细胞学结果和 BRAF 突变状态进行了评估；170 个恶性结节中，有 164 个为 PTC。将临床病理因素、超声表现和细胞学结果与 BRAF 状态进行了相关性分析。比较了超声、细胞学、BRAF 分析及其组合的诊断灵敏度和特异性。
在 170 个恶性甲状腺结节（140 个 PTC 和 1 个 PTC 的滤泡变异型）中检测到 BRAF 的 V600E 突变（BRAF(V600E))）。多元逻辑回归显示，除 BRAF(V600E)与不规则形状呈负相关（p = 0.004）外，BRAF 状态与超声特征无关。BRAF 阴性 PTC 的细胞学结果为不确定的比例高于 BRAF 阳性 PTC（p = 0.035）。与单独细胞学检查相比，将 BRAF 状态添加到细胞学检查中，PTC 的诊断灵敏度显著提高（94.1%对 81.8%）（p < 0.001）。与 BRAF 联合细胞学检查相比，超声、细胞学和 BRAF 分析的三联组合具有更高的敏感性（98.2%比 94.1%）（p < 0.05）。
除了不规则形状外，PTC 的超声特征与 BRAF 状态无关，联合超声和 BRAF 检测可提高 PTC 细胞学诊断的准确性。
