Department of Surgical Pathology, Institution of Medical and Surgical Sciences, University Hospital of Padova, Padova, Italy.
Clin Chem Lab Med. 2011 Feb;49(2):325-9. doi: 10.1515/CCLM.2011.031. Epub 2010 Dec 23.
The current preoperative diagnosis of a thyroid mass relies on microscopic evaluation of thyroid cells obtained by fine needle aspiration biopsy (FNAB). More recently, FNAB has been combined with molecular analysis to increase the accuracy of the cytological evaluation. In this mono-institutional prospective study, we evaluated whether the routine introduction of BRAF testing in thyroid FNAB could help ameliorate the preoperative recognition of papillary thyroid carcinoma (PTC) in "suspended" or malignant cytological categories. Moreover, we investigated the prognostic role of the BRAFV600E mutation in PTC.
BRAFV600E analysis was performed in thyroid FNAB from 270 patients classified into one of five cytological categories THY1, THY2, THY3, THY4, THY5. All subsequently underwent thyroidectomy±node dissection, from October 2008 to September 2009 in our Department. For each cytological category, we considered the definitive histological diagnosis of PTC and the presence of the BRAFV600E mutation. In 141 patients with a final tissue diagnosis of PTC, we correlated the presence of BRAFV600E with gender, age, histotype, TNM, size of the lesion, extracapsular extension, node metastases and multifocality.
The prevalence of the BRAFV600E mutation, among PTCs at final tissue diagnosis, was 69%. It improved the FNAB diagnostic accuracy from 88% to 91%. The BRAFV600E mutation was correlated with older age, classical variant of PTC, advanced stages in patients > 45 years.
BRAFV600E testing could play a role in improving the diagnostic accuracy of FNAB for PTC, representing a useful adjuvant tool in presurgical characterization of thyroid nodes in particular cases. There is an association between the BRAFV600E mutation and some clinico-pathological characteristics of PTC.
目前甲状腺肿块的术前诊断依赖于通过细针抽吸活检(FNAB)获得的甲状腺细胞的显微镜评估。最近,FNAB 已与分子分析相结合,以提高细胞学评估的准确性。在这项单机构前瞻性研究中,我们评估了在 FNAB 中常规引入 BRAF 检测是否有助于改善“可疑”或恶性细胞学类别的甲状腺乳头状癌(PTC)的术前识别。此外,我们研究了 BRAFV600E 突变在 PTC 中的预后作用。
对 270 例患者的甲状腺 FNAB 进行 BRAFV600E 分析,这些患者被分为五个细胞学类别 THY1、THY2、THY3、THY4 和 THY5。所有患者均于 2008 年 10 月至 2009 年 9 月在我科接受甲状腺切除术+淋巴结清扫术。对于每个细胞学类别,我们考虑了 PTC 的明确组织学诊断和 BRAFV600E 突变的存在。在 141 例最终组织学诊断为 PTC 的患者中,我们将 BRAFV600E 的存在与性别、年龄、组织类型、TNM、病变大小、包膜外侵犯、淋巴结转移和多灶性相关联。
在最终组织学诊断为 PTC 的病例中,BRAFV600E 突变的发生率为 69%。它将 FNAB 的诊断准确性从 88%提高到 91%。BRAFV600E 突变与年龄较大、经典型 PTC、45 岁以上患者的晚期阶段有关。
BRAFV600E 检测可在提高 FNAB 对 PTC 的诊断准确性方面发挥作用,特别是在某些情况下,它是甲状腺结节术前特征描述的有用辅助工具。BRAFV600E 突变与 PTC 的某些临床病理特征之间存在关联。