Department of Otolaryngology/Head and Neck Surgery, University of Pittsburgh Medical Center, Eye and Ear Institute, Pittsburgh, Pennsylvania.
Head Neck. 2013 Oct;35(10):1499-506. doi: 10.1002/hed.23140. Epub 2012 Sep 13.
Accurate preoperative assessment of thyroid nodules with fine-needle aspiration biopsy (FNAB) continues to be a challenge, often resulting in unnecessary diagnostic surgical intervention. The detection of several novel gene mutations in differentiated thyroid cancer (DTC) over the last decade has led to the diagnostic use of these oncogenic alterations to improve FNAB sensitivity and specificity.
Thyroid oncogene mutations including BRAF, RAS, and RET/PTC are reviewed. The potential benefit of using this panel on fine-needle aspiration (FNA) cytology samples will be described.
Our use of ''reflexive'' molecular testing demonstrates its clinical value in conjunction with FNAB cytology, representing an application of personalized molecular medicine to guide appropriate surgical therapy.
细针穿刺活检（FNAB）术前准确评估甲状腺结节仍然具有挑战性，通常导致不必要的诊断性手术干预。在过去十年中，在分化型甲状腺癌（DTC）中检测到几种新的基因突变，这导致这些致癌改变可用于诊断，以提高 FNAB 的敏感性和特异性。
本文回顾了甲状腺癌基因的突变，包括 BRAF、RAS 和 RET/PTC。将描述在细针抽吸（FNA）细胞学样本中使用该检测 panel 的潜在益处。
我们使用“反射性”分子检测与 FNAB 细胞学相结合，证明了其临床价值，代表了个性化分子医学在指导适当手术治疗中的应用。
