Age and BRAFV600E Mutation Stratified Patients with Cytologically Benign Thyroid Nodules

Abstract

Guocong Huang,1 Wei Liu,2 Li Han,2 Yue Zhang,2 Siyao Liu,2 Jiali Zhang,2 Beifang Niu3,4 1Department of Thyroid and Breast Surgery, The First Hospital of Putian City, Fujian, People’s Republic of China; 2Beijing ChosenMed Clinical Laboratory Co. Ltd., Beijing, People’s Republic of China; 3Computer Network Information Center, Chinese Academy of Sciences, Beijing, People’s Republic of China; 4University of the Chinese Academy of Sciences, Beijing, People’s Republic of ChinaCorrespondence: Guocong Huang, Department of Thyroid and Breast surgery, The First Hospital of Putian City, No. 449 South Gate West Road, Chengxiang District, Putian, Fujian Province, 351100, People’s Republic of China, Email [email protected] Beifang Niu, Computer Network Information Center, Chinese Academy of Sciences, CAS Informatization Plaza No. 2 Dong Sheng Nan Lu, Haidian District, Beijing, 100083, People’s Republic of China, Email [email protected]: Our objective was to evaluate the diagnostic performance of BRAFV600E mutation for malignant, and to identify clinical characteristics associated with positive BRAFV600E mutation in low-risk cytological and ultrasound diagnostic thyroid nodules. This aims to identify patients who may benefit from BRAFV600E mutation testing and subsequent surgical intervention.Patients and Methods: We analysis the clinical characteristics correlated with BRAFV600E 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 BRAFV600E mutation status were also evaluated in Asian patients with thyroid cancer from the Cancer Genome Atlas (TCGA) dataset.Results: The positive BRAFV600E mutation was significantly associated with higher Ultrasound (US) classification (p< 0.001) and fine-needle aspiration (FNA) categories (p< 0.001). BRAFV600E 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, BRAFV600E 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 BRAFV600E mutation when both ultrasound and FNA results indicate benign conditions, with higher risk of malignancy.Conclusion: BRAFV600E mutation is an accurate adjunctive diagnostic marker on FNA to screen malignancy. In low risk of both ultrasound and FNA results, the positive BRAFV600E was significant increased in patients over 50 years old, which have higher risk of malignancy. Thus, the BRAFV600E mutation detection and further surgery should be strengthened in older patients with benign cytological and US results thyroid nodules.Keywords: thyroid nodule, BRAFV600E mutation, benign cytology, older, diagnosis

Keywords

• thyroid nodule
• brafv600e mutation
• benign cytology
• older
• diagnosis