Abstract

To assess the association between BRAF V600E mutation and ultrasound (US) features in papillary thyroid carcinoma (PTC) patients with and without Hashimoto’s thyroiditis (HT). We retrospectively reviewed the US features and status of BRAF V600E mutation in 438 consecutive patients with surgically confirmed PTCs. The association between BRAF mutation and US features were analyzed. In addition, we conducted subgroup analyses in terms of coexistent HT. The BRAF mutation was found in 86.5% of patients (379 of 438). Patient age (OR: 1.028, P = 0.010), age ≥ 50 y (OR: 1.904, P = 0.030), and microcalcification (OR: 2.262, P = 0.015) on US were significantly associated with BRAF mutation in PTC patients. Solid component (OR: 5.739, P = 0.019) on US was the significant predictor for BRAF mutation in patients with HT, while age (OR: 1.036, P = 0.017) and microcalcification (OR: 3.093, P = 0.017) were significantly associated with BRAF mutation in patients without HT. In conclusion, older age and microcalcification are risk factors for BRAF mutation in PTC patients, especially in those without HT. For those with HT, however, PTCs with BRAF mutation tend to be solid on ultrasound. These factors might be considered when making treatment planning or prognosis evaluation.

Highlights

  • BRAF V600E mutation is a representative genetic alteration in papillary thyroid carcinoma (PTC), leading to abnormal activation of the MAPK pathway, which plays a crucial role in the initiation and progression of PTC4

  • None of the other factors such as gender, size, location, nodule number, nodule distribution, capsule contact, capsule involvement, echogenicity, internal component, shape, margin, ratio of height and width, vascularity and blood flow distribution were significantly associated with BRAF mutation in PTC patients (Table 1)

  • Univariate analysis demonstrated that the predictors such as age (OR: 1.028, P = 0.01), age ≥ 50 years (OR: 1.904, P = 0.03) and microcalcification (OR: 2.262, P = 0.015) were significantly associated with BRAF mutation in PTC patients (Table 2)

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Summary

Introduction

BRAF V600E mutation (hereafter referred to as the BRAF mutation) is a representative genetic alteration in PTC, leading to abnormal activation of the MAPK pathway, which plays a crucial role in the initiation and progression of PTC4. In recent years, this mutation has showed a potential to predict PTC prognosis and can be detected in aspiration specimens preoperatively[5, 6]. Many studies have showed that the occurrence of the BRAF mutation in PTC is correlated with aggressive clinicopathologic features and poor prognosis, such as extrathyroidal invasion, lymph node metastasis, and advanced TNM stage[7,8,9,10,11]. In this study, we analyzed the prevalence of the BRAF mutation in a cohort of PTC patients and aimed to evaluate the association between US features and BRAF mutation in PTC patients with HT or not

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