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Can Ultrasound Be as a Surrogate Marker for Diagnosing a Papillary Thyroid Cancer? Comparison with BRAF Mutation Analysis

 Jae Young Seo  ;  Eun-Kyung Kim  ;  Jung Hwan Baek  ;  Jung Hee Shin  ;  Kyung Hwa Han  ;  Jin Young Kwak 
 YONSEI MEDICAL JOURNAL, Vol.55(4) : 871-878, 2014 
Journal Title
Issue Date
Adult ; Aged ; Biomarkers ; Biopsy, Fine-Needle ; Carcinoma/diagnosis* ; Carcinoma/diagnostic imaging* ; Carcinoma/genetics ; Carcinoma, Papillary ; Cytodiagnosis ; Female ; Humans ; Male ; Middle Aged ; Proto-Oncogene Proteins B-raf/genetics* ; Retrospective Studies ; Thyroid Gland/metabolism ; Thyroid Gland/pathology ; Thyroid Neoplasms/diagnosis* ; Thyroid Neoplasms/diagnostic imaging* ; Thyroid Neoplasms/genetics ; Thyroid Nodule/metabolism ; Thyroid Nodule/pathology ; Ultrasonography ; Young Adult
BRAF mutation ; Thyroid cancer ; thyroid ultrasound
PURPOSE: We investigated the merit of ultrasound (US) features and BRAF(V600E) mutation as an additional study of cytology and compared the diagnostic performances of cytology alone, cytology with US correlation, cytology with BRAFV600E mutation, and a combination of cytology, US, and BRAFV600E mutation all together. MATERIALS AND METHODS: This study included 185 patients (mean age, 48.4 years; range 20-77 years) with 191 thyroid nodules who underwent US-guided fine-needle aspiration (FNA) with an additional BRAFV600E mutation test. Three radiologists highly experienced in thyroid imaging retrospectively reviewed US images and classified each nodule into two categories (positive for malignancy or negative for malignancy). Interobserver variability (IOV) of US assessment between the three readers was estimated using the generalized kappa statistic of Landis and Koch. We also calculated the diagnostic performances of these studies. RESULTS: There were 131 cases of malignancy (131/191, 68.6%) and 60 cases of benign nodules (60/191, 31.4%). In terms of IOV of US assessment, the generalized kappa value was 0.242, indicating fair agreement was reached. The combination of cytology with BRAFV600E showed higher specificity (100%) and positive predictive value (PPV) (100%) compared to the combination of cytology, BRAFV600E, and US (specificity 28.3%, 66.7%, 68.3%; PPV 74.6%, 86.6%, 86.8%, respectively; p<0.001). However, cytology with BRAFV600E showed lower sensitivity (84.7%) than cytology with BRAFV600E and US (96.2%, 98.5%, 95.4%, respectively; p<0.001). CONCLUSION: Considering the diagnostic performance and low reproducibility of US, the combination of FNA with BRAFV600E is the most reliable and objective method for diagnosing thyroid malignancy.
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1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
Yonsei Authors
Kwak, Jin Young(곽진영) ORCID logo https://orcid.org/0000-0002-6212-1495
Kim, Eun-Kyung(김은경) ORCID logo https://orcid.org/0000-0002-3368-5013
Han, Kyung Hwa(한경화)
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