Associations of BRAF^V600E mutation with the American College of Radiology Thyroid Imaging Reporting and Data System...

Area of Science:

• Oncology
• Radiology
• Genetics

Background:

• Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy in children.
• The BRAF^V600E mutation is a key driver in PTC pathogenesis and influences clinical behavior.
• Accurate pre-operative identification of BRAF^V600E mutation status is crucial for treatment planning in pediatric PTC.

Purpose of the Study:

• To investigate the association between BRAF^V600E mutation and ultrasound features categorized by the American College of Radiology Thyroid Imaging Reporting and Data System (TI-RADS).
• To explore the relationship between BRAF^V600E mutation and clinicopathological characteristics in pediatric PTC patients.
• To evaluate the diagnostic performance of TI-RADS in predicting BRAF^V600E mutation in this population.

Main Methods:

• Retrospective analysis of pediatric PTC patients who underwent thyroidectomy between May 2013 and May 2023.
• Univariate and multivariate logistic regression analyses to identify factors associated with BRAF^V600E mutation.
• Assessment of TI-RADS performance in predicting BRAF^V600E mutation, including sensitivity, specificity, and predictive values.

Main Results:

• BRAF^V600E mutation was present in 59.1% of pediatric PTC cases.
• Independent predictors for BRAF^V600E mutation included hypoechoic/very hypoechoic nodules (OR=8.48) and punctate echogenic foci (OR=24.3).
• BRAF^V600E mutation was significantly associated with TI-RADS 5 classification (OR=12.61). The combined ultrasound features demonstrated high diagnostic accuracy (87.9%) for predicting the mutation.

Conclusions:

• Hypoechoic echogenicity, punctate echogenic foci, and TI-RADS 5 are significant independent predictors of BRAF^V600E mutation in pediatric papillary thyroid carcinoma.
• These ultrasound findings can assist in the pre-operative identification of BRAF^V600E-mutated tumors, guiding treatment strategies.
• The study highlights the utility of TI-RADS in conjunction with specific sonographic features for risk stratification in pediatric thyroid nodules.