J Korean Soc Radiol.  2012 Jan;66(1):17-26. 10.3348/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

• Kim CH
• Choi YJ
• Choi SH
• Rho MH
• Kook SH
• Chung EC
• Chae SW
• Kim DH
• Sohn JH
• Yun JS

• KMID: 2208866
• DOI: http://doi.org/10.3348/jksr.2012.66.1.17

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.

MeSH Terms

Biopsy, Fine-Needle
DNA
Factor IX
Humans
Lymph Nodes
Mass Screening
Neoplasm Metastasis
Phosphotransferases
Prevalence
Thyroid Gland
Thyroid Neoplasms
Thyroid Nodule
DNA
Factor IX
Phosphotransferases

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