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  • Title: BRAFV600E mutation analysis in fine-needle aspiration cytology specimens for evaluation of thyroid nodule: a large series in a BRAFV600E-prevalent population.
    Author: Kim SW, Lee JI, Kim JW, Ki CS, Oh YL, Choi YL, Shin JH, Kim HK, Jang HW, Chung JH.
    Journal: J Clin Endocrinol Metab; 2010 Aug; 95(8):3693-700. PubMed ID: 20501689.
    Abstract:
    BACKGROUND: The BRAFV600E mutation is highly specific to papillary thyroid carcinoma. A test for this mutation may increase the diagnostic accuracy of fine-needle aspiration cytology (FNAC), especially in a BRAFV600E mutation-prevalent population. METHODS: This prospective study enrolled 1074 patients with thyroid nodules who underwent both FNAC and BRAFV600E mutation analysis by dual-priming oligonucleotide (DPO)-based multiplex PCR in FNA specimens. RESULTS: The ancillary test for BRAFV600E significantly improved the sensitivity of FNA procedure, from 67.5% with FNAC alone to 89.6% with FNAC and the DPO-based multiplex PCR analysis combined. Diagnostic accuracy increased from 90.9 to 96.6%. Nine cases of papillary thyroid carcinoma were detected only by BRAFV600E mutation analysis. Unexpectedly, the preoperative DPO-based multiplex PCR produced five false-positive results, which surgery showed to represent benign nodules. CONCLUSIONS: Molecular testing for the BRAFV600E mutation in FNA thyroid nodule specimens increases diagnostic value when applied in a BRAFV600E mutation-prevalent population. However, when using this potentially powerful technique, we must consider both its strengths and its weaknesses.
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