肾上腺皮质癌基因及分子机制

Genetic and molecular mechanism changes of adrenocortical carcinoma

肾上腺皮质癌(ACC)是一种罕见的肿瘤,部分可具有分泌类固醇激素的功能,其整体预后不良,尤其是对于难以手术切除的转移ACC患者,临床诊治存在挑战。现有研究表明ACC发病机制复杂,在肾上腺皮质生发及稳态维持中的分子水平改变均可能与疾病的产生相关。本文回顾近年来的研究,从肾上腺皮质的正常发育过程、多组学研究等,总结在此过程中目前可能与ACC相关的基因和分子机制,包括基因改变、表观遗传学改变、非编码RNA差异、免疫微环境及基于多组学分析发现的特征,从而为后续治疗靶点的选择提供依据。

Adreno-cortical carcinoma(ACC)is an uncommon tumor,some of them may produce excessive steroid hormone.The prognosis of ACC is quite poor and current treatment options are relatively limited,especially for patients whose tumor is metastatic and difficult to remove by surgical operation.This makes the management of ACC challenging.Existing studies have shown that the mechanisms of ACC are complex.The molecular changes happen in adrenocortical development and homeostasis may explain the occurrence of ACC.This review focuses on recent studies and summarizes the genetic and molecular mechanism changes that potentially associated with ACC in the development process of the adrenal cortex and multi-omics studies,including genomic changes,epigenetic changes,differences in non-coding RNA,immune microenvironment and features found through multi-omics analysis.This information may support screening of therapeutic targets of ACC in future.