Age and BRAFV600E Mutation Stratified Patients with Cytologically Benign Thyroid Nodules

Guocong Huang; Wei Liu; Li Han; Yue Zhang; Siyao Liu; Jiali Zhang; Beifang Niu

doi:10.2147/IJGM.S443711

Age and BRAF^V600E Mutation Stratified Patients with Cytologically Benign Thyroid Nodules

Int J Gen Med. 2023 Dec 22:16:6025-6039. doi: 10.2147/IJGM.S443711. eCollection 2023.

Authors

Guocong Huang¹, Wei Liu², Li Han², Yue Zhang², Siyao Liu², Jiali Zhang², Beifang Niu^{3

4}

Affiliations

¹ Department of Thyroid and Breast Surgery, The First Hospital of Putian City, Fujian, People's Republic of China.
² Beijing ChosenMed Clinical Laboratory Co. Ltd., Beijing, People's Republic of China.
³ Computer Network Information Center, Chinese Academy of Sciences, Beijing, People's Republic of China.
⁴ University of the Chinese Academy of Sciences, Beijing, People's Republic of China.

Abstract

Purpose: Our objective was to evaluate the diagnostic performance of BRAF^V600E mutation for malignant, and to identify clinical characteristics associated with positive BRAF^V600E mutation in low-risk cytological and ultrasound diagnostic thyroid nodules. This aims to identify patients who may benefit from BRAF^V600E mutation testing and subsequent surgical intervention.

Patients and methods: We analysis the clinical characteristics correlated with BRAF^V600E mutation in our detection cohort, including 204 patients with 217 thyroid nodules, and separate analyses were performed in 103 thyroid nodules with benign cytological result. Signaling pathway and immune response associated with age and BRAF^V600E mutation status were also evaluated in Asian patients with thyroid cancer from the Cancer Genome Atlas (TCGA) dataset.

Results: The positive BRAF^V600E mutation was significantly associated with higher Ultrasound (US) classification (p<0.001) and fine-needle aspiration (FNA) categories (p<0.001). BRAF^V600E mutation as a risk factor for malignancy, showing the optimal diagnostic efficacy for malignancy combined with FNA categories, with the AUC was 0.923. Otherwise, BRAF^V600E mutation is a risk factor in screening malignancy in low-risk FNA and US classification, which is significant correlation with patients age. Patients over 50 years old exhibiting a higher percentage of positive BRAF^V600E mutation when both ultrasound and FNA results indicate benign conditions, with higher risk of malignancy.

Conclusion: BRAF^V600E mutation is an accurate adjunctive diagnostic marker on FNA to screen malignancy. In low risk of both ultrasound and FNA results, the positive BRAF^V600E was significant increased in patients over 50 years old, which have higher risk of malignancy. Thus, the BRAF^V600E mutation detection and further surgery should be strengthened in older patients with benign cytological and US results thyroid nodules.

Keywords: BRAFV600E mutation; benign cytology; diagnosis; older; thyroid nodule.

Grants and funding

This research was funded by National Natural Science Foundation of China (grant number 92259101, 31771466) and Strategic Priority Research Program of the Chinese Academy of Sciences, China (grant number XDB38040100).