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Kim, Choi, Choi, Rho, Kook, Chung, Chae, Kim, Sohn, and Yun: Prevalence of the B Type Raf Kinase V600E Mutation in Cytologically Indeterminate Thyroid Nodules: Correlation with Ultrasonographic and Pathologic Features
Head and Neck Radiology
Journal of the Korean Society of Radiology

Journal of the Korean Society of Radiology 2012; 66(1): 17-26.

Published online: 12 January 2012

DOI: https://doi.org/10.0000/jksr.2012.66.1.17

Prevalence of the B Type Raf Kinase V600E Mutation in Cytologically Indeterminate Thyroid Nodules: Correlation with Ultrasonographic and Pathologic Features

Chae Hyun Kim, MD1, Yoon Jung Choi, MD1, Seon Hyeong Choi, MD1, Myong-Ho Rho, MD1, Shin-Ho Kook, MD1, Eun Chul Chung, MD1, Seoung Wan Chae, MD2, Dong-Hoon Kim, MD2, Jin-Hee Sohn, MD2, Ji-Sup Yun, MD3

1Department of Radiology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

2Department of Pathology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

3Department of Surgery, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

Corresponding author: Yoon Jung Choi, MD. Department of Radiology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 78 Saemunan-gil, Jongno-gu, Seoul 110-746, Korea. Tel. 82-2-2001-3880, Fax. 82-2-2001-1030, yoonchoi99@yahoo.com

Received 28 July 2011       Accepted 20 October 2011

Copyright © 2012 The Korean Society of Radiology

Abstract

Purpose

To study the prevalence of B type Raf kinase (BRAF) mutations, and to evaluate the ultrasonographic and clinicopathological features associated with thyroid cytology of indeterminate nodules.

Materials and Methods

We assessed the presence or absence of BRAF mutation in 44 specimens from patients with cytologically indeterminate thyroid nodules according to two consecutive preoperative fine needle aspiration cytology procedures. In 9 specimens, the test for BRAF mutation was not possible due to scant cellularity. DNA was extracted from the atypical cells and then analyzed for the BRAF V600E mutation by pyrosequencing. The ultrasonographic and clinicopathological features of the patients were characterized according to their mutation status.

Results

The BRAF V600E mutation was present in 17 (48.6%) of 35 patients with indeterminate cytology results and in 17 (54.8%) of the 31 patients with papillary thyroid cancer (PTC). Twenty two of 35 cytologically indeterminate nodules had calcifications, and among them 14 cases were proven to be positive for BRAF V600E mutations. Extrathyroid extension was significantly more frequent in the presence of the BRAF V600E mutation (p = 0.027), while tumor size, lympho-vascular invasion, or lymph node metastasis were not associated with the mutation.

Conclusion

Screening for BRAF V600E mutations in conjunction with cytology may increase the diagnostic accuracy for PTC with indeterminate cytology results.

Keywords: Atypia, Fine-Needle Aspiration, Thyroid Nodule, Thyroid Neoplasm, Cytology

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