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KMID : 1103720120660010017
Journal of the Korean Society of Radiology
2012 Volume.66 No. 1 p.17 ~ p.26
Prevalence of the B Type Raf Kinase V600E Mutation in Cytologically Indeterminate Thyroid Nodules: Correlation with Ultrasonographic and Pathologic Features
Kim Chae-Hyun

Choi Yoon-Jung
Choi Seon -Hyeong
Rho Myong-Ho
Kook Shin-Ho
Chung Eun-Chul
Chae Seoung-Wan
Kim Dong-Hoon
Sohn Jin-Hee
Yun Ji-Sup
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.
KEYWORD
Atypia, Fine-Needle Aspiration, Thyroid Nodule, Thyroid Neoplasm, Cytology
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