肾上腺皮质癌是一种罕见的恶性肿瘤，全球每年发病率为每100万中1-2例，5年生存率<60%。尽管肾上腺皮质癌很罕见，但此类罕见癌症约占每年诊断出的癌症患者的三分之一。在过去的十年中，对肾上腺皮质癌的分子基础的理解取得了相当大的进展。成人肾上腺皮质癌相关的遗传事件与儿科病例不同，儿科病例通常与种系或体细胞 TP53 突变相关，预后较好。在成人原发性肾上腺皮质癌中，主要的体细胞遗传改变发生在编码参与 WNT-β-连环蛋白途径、细胞周期和 p53 凋亡途径、染色质重塑和端粒维持途径、cAMP-蛋白激酶 A (PKA) 途径的蛋白质的基因中或DNA转录和RNA翻译途径。最近，肾上腺皮质癌的综合分子研究以体细胞突变、甲基化组以及基因和 microRNA 表达谱为特征，对这些肿瘤进行了分子分类，可以预测预后，并有助于确定新的治疗靶点。在这篇综述中，我们总结了肾上腺皮质癌的这些最新转化研究进展，希望能够改善患者的诊断、治疗和结果。© 2023。Springer Nature Limited。

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.© 2023. Springer Nature Limited.