Factors associated with BRAF V600E gene mutation in patients with undiagnosed papillary thyroid carcinoma by fine needle aspiration cytology

Guozhi ZHANG; Qiyun SHI; Yangqiu BAO; Ailing LI; Feng WU; Cheng WANG; Xiaowei QI; Yi ZHANG

doi:10.16016/j.2097-0927.202208012

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Factors associated with BRAF V600E gene mutation in patients with undiagnosed papillary thyroid carcinoma by fine needle aspiration cytology

Clinical Medicine | 更新时间：2026-01-09

- Factors associated with BRAF V600E gene mutation in patients with undiagnosed papillary thyroid carcinoma by fine needle aspiration cytology
- Journal of Army Medical University Vol. 44, Issue 24, Pages: 2522-2529(2022)
- 作者机构：
  
  1.400038 重庆，陆军军医大学(第三军医大学)第一附属医院：乳腺甲状腺外科
  2.400038 重庆，陆军军医大学(第三军医大学)第一附属医院：病理科
- 作者简介：
- 基金信息：
- DOI：10.16016/j.2097-0927.202208012
  CLC： R181.23;R394.3;R736.1
- Received：01 August 2022，
  
  Revised：2022-08-16，
  
  Published：30 December 2022
- 稿件说明：
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Guozhi ZHANG, Qiyun SHI, Yangqiu BAO, et al. Factors associated with BRAF V600E gene mutation in patients with undiagnosed papillary thyroid carcinoma by fine needle aspiration cytology[J]. Journal of Army Medical University, 2022, 44(24): 2522-2529.
DOI：

Guozhi ZHANG, Qiyun SHI, Yangqiu BAO, et al. Factors associated with BRAF V600E gene mutation in patients with undiagnosed papillary thyroid carcinoma by fine needle aspiration cytology[J]. Journal of Army Medical University, 2022, 44(24): 2522-2529. DOI： 10.16016/j.2097-0927.202208012.

摘要

目的

探讨细针穿刺细胞学(fine-needle aspiration cytopathology，FNAC)分类为BethesdaⅠ~Ⅴ类，但术后组织学病理证实为甲状腺乳头状癌(papillary thyroid carcinoma，PTC)患者BRAF V600E基因突变的关联因素。

方法

采用回顾性队列研究设计方案。筛选2020年6月至2021年6月我院乳腺甲状腺外科收治的、FNAC分类为Bethesda Ⅰ~Ⅴ类、术后病理证实为PTC患者的临床资料，根据术前穿刺标本基因检测结果分为BRAF V600E基因突变阳性组和阴性组；对比两组患者的临床资料差异，分析其与BRAF V600E基因突变的相联。

结果

共纳入127例病例，其中男性27例(21.26%)，女性100例(78.74%)，平均年龄42.51岁(中位年龄42岁)。BRAF V600E基因突变患者82例(64.57%)，无突变患者45例(35.43%)。单因素分析结果提示两组患者的被膜结节与被膜分界形态、颈部异常淋巴结、TIRADS分级、细针穿刺细胞学分类、T分期等有统计学意义(

＜0.05)。Logistic多因素回归分析提示被膜结节与被膜分界异常淋巴结为此类患者BRAF V600E基因突变的独立影响因素。ROC曲线提示以被膜分界、结节形态、颈部异常淋巴结、TIRADS分级为模型预测因素时，曲线下面积(area under curve

AUC)为0.921(95%

：0.876~0.967)，敏感度及特异度分别为82.9%和86.7%。

结论

PTC患者结节与被膜分界、结节形态、超声提示颈部异常淋巴结、TIRADS分级、细针穿刺细胞学分类、T分期与BRAF V600E基因突变相关；超声提示颈部异常淋巴结及结节与被膜分界可以用来预测BRAF V600E基因突变情况。

Abstract

Objective

To investigate the associated factors of BRAF V600E gene mutation in patients classified as Bethesda I~V nodes by fine needle aspiration cytology (FNAC) but confirmed as papillary thyroid carcinoma (PTC) by postoperative histopathology.

Methods

A retrospective analysis was performed on the clinical data of the patients with FNAC classification of Bethesda I~V but confirmed by postoperative histopathology as PTC who were treated in our hospital from June 2020 to June 2021. According to the results of BRAF V600E gene test in preoperative puncture specimens

the patients were divided into mutation positive group and negative group. The clinical data were compared between the 2 groups

and the indicators associated with BRAF V600E gene mutation were analyzed.

Results

Of the 127 enrolled patients

they were 27 males (21.26%) and 100 females (78.74%)

with a mean age of 42.51 years (median age: 42 years). Eight-two patients (64.57%) harbored the BRAF V600E gene mutation

and 45 (35.43%) did not. Univariate analysis showed that there were significant differences in the capsular boundary

nodule morphology

abnormal cervical lymph nodes

TIRADS grade

FNAC class

and T-stage between the 2 groups (

0.05). Multivariate logistic regression analysis indicated that capsular boundary and abnormal cervical lymph nodes were independent influencing factors of BRAF V600E gene mutation in these patients. ROC curve analysis suggested that the area under the curve (AUC) was 0.921 (95%

: 0.876~0.967)

with a sensitivity and specificity of 82.9% and 86.7%

respectively

when taking capsular boundary

nodule morphology

abnormal cervical lymph nodes and TIRADS grade combined together.

Conclusion

BRAF V600E gene mutation is associated with capsular boundary

nodule morphology

abnormal cervical lymph nodes on ultrasonogram

TIRADS grade

FNAC class

and T-stage in PTC patients. Among them

ultrasonographic indication of abnormal cervical lymph nodes and the boundary between nodules and capsule can be used to predict BRAF V600E gene mutation.

关键词

Keywords

references

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