Rodrigues Ana Cunha, Penna Gustavo, Rodrigues Elisabete, Castro Patrícia, Sobrinho-Simões Manuel, Soares Paula
Department of Pathology, Medical Faculty, University of Porto, Porto, Portugal.
Department of Internal Medicine - Endocrinology, Medical Faculty, Federal University of Rio de Janeiro, Rio de Janeiro, Brasil.
Curr Genomics. 2017 Jun;18(3):244-254. doi: 10.2174/1389202918666170105094459.
Papillary microcarcinoma of the thyroid (mPTC) is defined by the WHO as a papillary thy-roid cancer measuring 10mm or less in diameter and it is nowadays a topic of intense debate among the members of the medical community due to its apparent "epidemic" rise. Although these tumors follow almost always an indolent clinical course and carry an excellent prognosis, it is known that a small sub-set may display a potentially aggressive behavior. Nevertheless, we still lack an accurate way of predict-ing those which will cause significant disease. In an attempt to address this problem, a number of clini-co-pathologic features have been studied as poor prognostic markers in mPTC, and their association with known genetic alterations in thyroid cancer has been evaluated. Herein we review the present knowledge concerning mPTC's genetic profile, namely the prevalence of BRAF (V600E), RAS and TERT promoter mutations and RET/PTC and PAX8-PPARG rearrangements and report the results of the evaluation in the putative prognostic value of these genetic alterations in mPTC.
甲状腺微小乳头状癌（mPTC）被世界卫生组织定义为直径10毫米或更小的乳头状甲状腺癌，由于其明显呈“流行”趋势上升，如今已成为医学界成员激烈争论的话题。尽管这些肿瘤几乎总是呈现惰性临床病程且预后良好，但已知一小部分可能表现出潜在的侵袭性。然而，我们仍然缺乏一种准确的方法来预测哪些会导致严重疾病。为了解决这个问题，人们研究了一些临床病理特征作为mPTC的不良预后标志物，并评估了它们与甲状腺癌已知基因改变的关联。在此，我们综述了关于mPTC基因谱的现有知识，即BRAF（V600E）、RAS和TERT启动子突变以及RET/PTC和PAX8-PPARG重排的发生率，并报告了对这些基因改变在mPTC中的假定预后价值的评估结果。
