This review addresses the impact of molecular alterations on the diagnosis and prognosis of differentiated thyroid carcinoma (DTC), including papillary, follicular, and well-differentiated carcinoma NOS, as well as oncocytic neoplasms. The molecular characterization of DTC is based upon the well-established dichotomy of BRAF-like and RAS-like designations, together with a remaining third group, less homogeneous, composed of non-BRAF-/non-RAS-like tumors. The role of BRAF V600E mutation in risk stratification is discussed in the clinico-pathological context, namely, staging and invasive features of classic papillary thyroid carcinoma (PTC) and histopathological variants carrying an excellent prognosis (microPTC) or a guarded prognosis, including the aggressive variants tall cell and hobnail cell PTCs. In follicular patterned tumors, namely, follicular thyroid carcinoma (FTC), with or without oncocytic features, the most prevalent molecular alteration are RAS mutations that do not carry prognostic significance. The only genetic alteration that has been proven to play a role in risk stratification of PTC and FTC is TERT promoter (TERTp) mutation.

本综述讨论了分子改变对分化型甲状腺癌 (DTC) 诊断和预后的影响，包括乳头状癌、滤泡癌和高分化癌 NOS，以及嗜酸细胞肿瘤。DTC 的分子特征是基于公认的BRAF样和RAS样命名的二分法，以及由非BRAF- /非RAS样肿瘤组成的其余第三组，较不均匀。BRAF的作用风险分层中的 V600E 突变在临床病理背景下进行了讨论，即经典甲状腺乳头状癌 (PTC) 的分期和侵袭特征以及具有良好预后 (microPTC) 或保守预后的组织病理学变异，包括侵袭性变异高细胞和钉细胞 PTC。在滤泡型肿瘤，即滤泡甲状腺癌 (FTC) 中，无论是否具有嗜酸细胞特征，最普遍的分子改变是不具有预后意义的RAS突变。唯一已被证明在 PTC 和 FTC 风险分层中起作用的基因改变是TERT启动子 (TERTp) 突变。