甲状腺结节穿刺标本中BRAF V600E突变检测的临床意义

张　玲; 周晓燕; 陈　颖; 张　皓; 高丽丽; 王　宇; 稽庆海; 平　波; 朱晓丽

doi:10.19401/j.cnki.1007-3639.2019.03.004

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甲状腺结节穿刺标本中BRAF V600E突变检测的临床意义

论著 | 更新时间：2026-01-27

- 甲状腺结节穿刺标本中BRAF V600E突变检测的临床意义
- Clinical significance of BRAF V600E detection in fine-needle aspiration samples of thyroid nodule
- 中国癌症杂志 2019年29卷第3期页码：178-182
- 作者机构：
  
  1. 复旦大学附属肿瘤医院病理科，复旦大学上海医学院肿瘤学系,上海,200032
  2. 复旦大学附属肿瘤医院头颈外科，复旦大学上海医学院肿瘤学系,上海,200032
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2019.03.004
  中图分类号： R736.1;R730.43
- 网络出版：2019-04-26，
  
  纸质出版：2019-04-26
- 稿件说明：
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张　玲，周晓燕，陈　颖，张　皓，高丽丽，王　宇，稽庆海，平　波，朱晓丽. 甲状腺结节穿刺标本中BRAF V600E突变检测的临床意义[J]. 中国癌症杂志, 2019, 29(3): 178-182.

张　玲, 周晓燕, 陈　颖, et al. Clinical significance of BRAF V600E detection in fine-needle aspiration samples of thyroid nodule[J]. China Oncology, 2019, 29(3): 178-182.
张　玲，周晓燕，陈　颖，张　皓，高丽丽，王　宇，稽庆海，平　波，朱晓丽. 甲状腺结节穿刺标本中BRAF V600E突变检测的临床意义[J]. 中国癌症杂志, 2019, 29(3): 178-182. DOI： 10.19401/j.cnki.1007-3639.2019.03.004.

张　玲, 周晓燕, 陈　颖, et al. Clinical significance of BRAF V600E detection in fine-needle aspiration samples of thyroid nodule[J]. China Oncology, 2019, 29(3): 178-182. DOI： 10.19401/j.cnki.1007-3639.2019.03.004.

摘要

背景与目的：在甲状腺乳头状癌（papillary thyroid carcinoma，PTC）中，BRAF V600E突变是迄今报道最多的基因突变。检测甲状腺穿刺细胞中的BRAF V600E突变有助于提高细针抽吸细胞学检查（fine-needle aspiration cytology，FNAC）诊断的准确性。本研究对甲状腺穿刺细胞液进行BRAF V600E突变检测，与术后组织病理学诊断结果进行比较，评估BRAF V600E突变的术前诊断价值。方法：回顾性分析2016年6月—2017年4月在复旦大学附属肿瘤医院就诊的563例甲状腺结节患者的B超引导下FNAC标本中的BRAF V600E突变结果，所有病例用QIAamp DNA Mini Kit提取DNA，并用突变特异性扩增系统（amplification refractory mutation system，ARMS）方法检测BRAF V600E突变。结果：563例患者的FNAC标本中，ARMS方法检测成功率为99.3%，男女比例为1.0∶3.7，平均年龄（45.0±0.9）岁。以组织病理学诊断作为金标准对209例接受手术治疗的患者进行诊断，细胞学诊断PTC的灵敏度为86.6%，特异度为100.0%；细胞学联合BRAF V600E诊断PTC的灵敏度为92.1%，特异度为100.0%。FNAC联合BRAF V600E检测的诊断准确率高于细胞学诊断。组织病理学诊断为PTC的患者中，有11例患者细胞学诊断未见肿瘤细胞，但BRAF V600E检测有突变，其中9例为微小PTC。结论：用ARMS方法检测FNAC标本中BRAF V600E基因突变，检测成功率高，是临床易于开展的术前辅助诊断方法。将细胞学诊断与BRAF V600E检测结果相结合，可提高PTC的检出率，提高术前诊断的准确率。

Abstract

Background and purpose: In papillary thyroid carcinoma (PTC)

the BRAF V600E mutations are reported so far to have the most important diagnostic value among genetic mutations. Detection of BRAF V600E mutation in thyroid puncture cells can improve the diagnostic accuracy of fine-needle aspiration cytology (FNAC). In this study

BRAF V600E mutation detection was performed on thyroid puncture cell fluid

compared with postoperative histopathologic diagnosis

and the preoperative diagnostic value of this mutation was evaluated according to the coincidence rate with histopathologic diagnosis. Methods: A total of 563 patients with thyroid nodules were enrolled following ultrasound-guided aspiration in Fudan University Shanghai Cancer Center from Jun. 2016 to Apr. 2017. DNA QIAamp Mini Kit was used to extract the DNA in thyroid puncture cell fluid

and amplification refractory mutation system (ARMS) method was used to detect BRAF V600E mutation. Results: Among the 563 patients who were tested for BRAF V600E

209 cases had surgical treatment. The overall ratio of men to women was 1.0∶3.7

aged 1 to 79 years

with an average age of (45.0±0.9) years. The success rate of BRAF V600E detection was 99.3%. Histopathological diagnosis was taken as the gold standard. The sensitivity and specificity of cytology diagnosis of papillary thyroid carcinoma were 86.6% and 100.0%

respectively. The sensitivity and specificity of cytology combined with BRAF V600E test for the diagnosis of PTC were 92.1% and 100.0%

respectively. FNAC combined with BRAF V600E detection method had a higher positive detection rate than cytological diagnosis. Among the patients diagnosed by histopathology as having PTC

11 cases had negative cytological diagnosis but positive results of BRAF V600E test. Conclusion: As to ultrasound-guided thyroid FNAC tissue

the ARMS method for BRAF V600E mutation test has a high success rate of detection

and can aid preoperative diagnosis. The combination of cytological diagnosis and BRAF V600E detection results can improve the detection rate of malignancy and the accuracy of preoperative diagnosis

and protect the patients from the delay of treatment and the progression of the disease caused by missed cytological diagnosis.

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