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BRAFV600E 突变和超声检查在细胞学检查提示甲状腺乳头状癌可疑的甲状腺结节手术管理中的作用。

The role of BRAFV600E mutation and ultrasonography for the surgical management of a thyroid nodule suspicious for papillary thyroid carcinoma on cytology.

机构信息

Department of Radiology, Research Institute of Radiological Science, Yonsei University College of Medicine, Seoul, South Korea.

出版信息

Ann Surg Oncol. 2009 Nov;16(11):3125-31. doi: 10.1245/s10434-009-0644-9. Epub 2009 Jul 31.

Abstract

BACKGROUND

This study was designed to investigate the role of BRAFV600E mutation status in cytology specimens and ultrasonography (US) when planning surgery for thyroid nodules with cytologic results suspicious for papillary thyroid carcinoma (PTC).

METHODS

From July 2008 to November 2008, 91 consecutive patients with cytologic results of suspicious for PTC underwent thyroidectomy. Before surgery, all patients received US-guided fine needle aspiration biopsy (US-FNAB) solely for the purpose of BRAFV600E mutation analysis of thyroid nodules suspicious for PTC on cytology. BRAFV600E mutations were tested by direct sequencing. We investigated the role of BRAFV600E mutation and US in planning the thyroid surgery.

RESULTS

Of 91 nodules suspicious for PTC, 42 (46.2%) were positive for the BRAFV600E mutation and confirmed to be PTC by histopathology. The positive predictive values of BRAFV600E mutation was 100%. Of the 49 nodules without the BRAFV600E mutation, 42 (85.7%) proved to be PTC. Thirty-nine of 42 (92.9%) PTCs were suspicious for malignant features on US. Two of seven (28.6%) benign lesions showed probably benign features. The sensitivity, positive predictive value, and accuracy of US in thyroid nodules without BRAFV600E mutations was 92.9% (39/42), 88.6% (39/44), and 83.7% (41/49), respectively.

CONCLUSIONS

The BRAFV600E mutation is a useful molecular marker for preoperative diagnosis of PTC and an indicator for therapeutic thyroid surgery in the nodule with cytologic results suspicious for PTC. In thyroid nodules without the BRAFV600E mutation, suspicious malignant features on US may help in planning the extent of thyroid surgery.

摘要

背景

本研究旨在探讨 BRAFV600E 突变状态在细胞学检查结果为甲状腺乳头状癌(PTC)可疑的甲状腺结节的手术计划中的作用。

方法

从 2008 年 7 月至 2008 年 11 月,91 例细胞学检查结果为 PTC 可疑的连续患者接受了甲状腺切除术。手术前,所有患者均接受了超声引导下细针抽吸活检(US-FNAB),仅用于对细胞学检查可疑 PTC 的甲状腺结节进行 BRAFV600E 突变分析。BRAFV600E 突变通过直接测序进行检测。我们研究了 BRAFV600E 突变和 US 在甲状腺手术计划中的作用。

结果

91 个可疑 PTC 的结节中,42 个(46.2%)BRAFV600E 突变阳性,组织病理学证实为 PTC。BRAFV600E 突变的阳性预测值为 100%。在没有 BRAFV600E 突变的 49 个结节中,42 个(85.7%)证实为 PTC。42 个 PTC 中有 39 个(92.9%)在 US 上表现为恶性特征可疑。2 个(28.6%)良性病变表现为可能良性特征。在没有 BRAFV600E 突变的甲状腺结节中,US 的敏感性、阳性预测值和准确性分别为 92.9%(39/42)、88.6%(39/44)和 83.7%(41/49)。

结论

BRAFV600E 突变是术前诊断 PTC 的有用分子标志物,也是细胞学检查结果可疑为 PTC 的结节进行治疗性甲状腺手术的指标。在没有 BRAFV600E 突变的甲状腺结节中,US 上表现出恶性特征可疑可能有助于计划甲状腺手术的范围。

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