遗传指导下的甲状腺癌风险评估与管理。
Genetic-guided Risk Assessment and Management of Thyroid Cancer.
机构信息
Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, 1830 East Monument Street, Suite 333, Baltimore, MD 21287, USA.
出版信息
Endocrinol Metab Clin North Am. 2019 Mar;48(1):109-124. doi: 10.1016/j.ecl.2018.11.007.
Abstract
Controversies exist on how to optimally manage thyroid cancer because the prognosis is often uncertain based on clinical backgrounds. This can now be helped with prognostic genetic markers in thyroid cancer, exemplified by BRAF V600E and TERT promoter mutations, which have been well characterized and widely appreciated. The genetic duet of BRAF V600E/RAS and TERT promoter mutations is a most robust prognostic genetic pattern for poor prognosis of differentiated thyroid cancer. The high negative predictive values of the prognostic genetic markers are equally valuable. The best prognostic value of genetic markers in thyroid cancer is achieved through a clinical risk level-based and genotype-individualized manner.
摘要
甲状腺癌的最佳治疗方案存在争议，因为其预后通常不确定，这与临床背景有关。目前，甲状腺癌的预后遗传标志物可以帮助解决这个问题，例如 BRAF V600E 和 TERT 启动子突变，这些标志物已经得到了很好的描述和广泛的认可。BRAF V600E/RAS 和 TERT 启动子突变的基因双因素是分化型甲状腺癌预后不良的最具预测性的遗传模式。遗传标志物的高阴性预测值同样具有价值。通过临床风险分层和基于基因型的个体化方式，可以实现甲状腺癌遗传标志物的最佳预后价值。
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