Xing Mingzhao
Laboratory for Cellular and Molecular Thyroid Research, Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
BMC Med. 2016 Jan 27;14:12. doi: 10.1186/s12916-016-0559-9.
RAS mutations play an important role in thyroid tumorigenesis. Considerable effort has been made in the last decade to apply RAS mutations as molecular markers to the clinical management of thyroid nodules and thyroid cancer. Yet, for the low diagnostic sensitivities and specificities of RAS mutations, when used alone, and for their uncertain role in the clinical outcomes of thyroid cancer, it has been unclear how to appropriately use them to assist the management of thyroid nodules and thyroid cancer. Studies from recent years, now added from the Alexander group, have shed light on this issue, making a blurred clinical picture now emerge clearer-RAS mutations, when combined with other genetic markers, have high diagnostic negative predictive values for thyroid cancer; cytologically benign thyroid nodules, including those positive for RAS mutations, have long-term clinical stability when non-surgically managed; and differentiated thyroid cancers harboring RAS mutations alone have an excellent prognosis. This progress in understanding RAS mutations in thyroid cancer is showing a major impact on molecular-based practice in the management of thyroid cancer.Please see related research articles: http://dx.doi.org/10.1186/s12916-016-0554-1 and http://dx.doi.org/10.1186/s12916-015-0419-z.
RAS 突变在甲状腺肿瘤发生过程中发挥着重要作用。在过去十年里，人们付出了巨大努力，试图将 RAS 突变作为分子标志物应用于甲状腺结节和甲状腺癌的临床管理。然而，由于 RAS 突变单独使用时诊断敏感性和特异性较低，且其在甲状腺癌临床结局中的作用尚不明确，因此一直不清楚如何恰当地利用它们来辅助甲状腺结节和甲状腺癌的管理。近年来的研究，现在加上亚历山大团队的研究，为这个问题带来了曙光，使原本模糊的临床情况变得更加清晰——RAS 突变与其他基因标志物联合使用时，对甲状腺癌具有较高的诊断阴性预测价值；细胞学检查为良性的甲状腺结节，包括那些 RAS 突变呈阳性的结节，在非手术治疗时具有长期临床稳定性；仅携带 RAS 突变的分化型甲状腺癌预后良好。甲状腺癌中对 RAS 突变的这一认识进展正显示出对基于分子的甲状腺癌管理实践的重大影响。请参阅相关研究文章：http://dx.doi.org/10.1186/s12916-016-0554-1 和 http://dx.doi.org/10.1186/s12916-015-0419-z。
