文章：

罕见癌型肾上腺皮质癌转化研究进展

Advances in translational research of the rare cancer type adrenocortical carcinoma

原文发布日期：2023-10-19

DOI: 10.1038/s41568-023-00623-0

类型: Review Article

开放获取: 否

英文摘要：

Adrenocortical carcinoma is a rare malignancy with an annual worldwide incidence of 1–2 cases per 1 million and a 5-year survival rate of <60%. Although adrenocortical carcinoma is rare, such rare cancers account for approximately one third of patients diagnosed with cancer annually. In the past decade, there have been considerable advances in understanding the molecular basis of adrenocortical carcinoma. The genetic events associated with adrenocortical carcinoma in adults are distinct from those of paediatric cases, which are often associated with germline or somatic TP53 mutations and have a better prognosis. In adult primary adrenocortical carcinoma, the main somatic genetic alterations occur in genes that encode proteins involved in the WNT–β-catenin pathway, cell cycle and p53 apoptosis pathway, chromatin remodelling and telomere maintenance pathway, cAMP–protein kinase A (PKA) pathway or DNA transcription and RNA translation pathways. Recently, integrated molecular studies of adrenocortical carcinomas, which have characterized somatic mutations and the methylome as well as gene and microRNA expression profiles, have led to a molecular classification of these tumours that can predict prognosis and have helped to identify new therapeutic targets. In this Review, we summarize these recent translational research advances in adrenocortical carcinoma, which it is hoped could lead to improved patient diagnosis, treatment and outcome.

摘要翻译： 

肾上腺皮质癌是一种罕见恶性肿瘤，全球年发病率为每百万人1-2例，五年生存率低于60%。尽管肾上腺皮质癌较为罕见，但此类罕见癌症约占每年确诊癌症患者总数的三分之一。过去十年间，我们在理解肾上腺皮质癌分子基础方面取得了重大进展。成人肾上腺皮质癌的遗传事件与儿童病例存在显著差异，后者常与种系或体细胞TP53突变相关且预后较好。在成人原发性肾上腺皮质癌中，主要体细胞基因改变发生在编码以下通路的蛋白质基因中：WNT-β-atenin通路、细胞周期与p53凋亡通路、染色质重塑与端粒维持通路、cAMP-蛋白激酶A（PKA）通路，或DNA转录与RNA翻译通路。近期对肾上腺皮质癌的综合分子研究——包括体细胞突变、甲基化组以及基因和微RNA表达谱的特征分析——促成了该肿瘤的分子分型，这种分型能预测预后并有助于识别新的治疗靶点。本综述旨在总结肾上腺皮质癌这些最新的转化研究进展，这些进展有望推动患者诊断、治疗和预后的改善。

原文链接：

Advances in translational research of the rare cancer type adrenocortical carcinoma