涉及 MYCN 基因的染色体异常很少见；然而，它是继 RB1 基因之后视网膜母细胞瘤 (RB) 中最常见的突变基因之一。 MYCN 在大约 1-9% 的 RB 肿瘤中扩增。它通过多种机制在RB肿瘤发生中发挥作用，包括与RB1缺失的协同作用、与MDM2的正反馈、上调细胞周期调节基因、上调miRNA和上调葡萄糖代谢。 MYCN 扩增并不相互排斥，即使存在 RB1 基因突变也可能发生。临床上，RB1 / MYCNA 肿瘤在幼儿中表现为散发性、单侧、晚期肿瘤，并且往往呈侵袭性病程。磁共振成像特征包括周围肿瘤位置、鳞状结构、视网膜折叠、肿瘤相关出血和前房增强。特别建议对单侧 RB 患者进行 MYCNA 基因检测，因为血液基因检测和肿瘤组织显示缺乏 RB1 突变。 MYCN 靶向疗法正在不断发展，并为未来带来希望。版权所有 © 2024 Elsevier Inc. 保留所有权利。

Chromosomal abnormalities that involve the MYCN gene are rare; however, it is one of the most commonly mutated genes in retinoblastoma (RB) after the RB1 gene. MYCN is amplified in approximately 1-9% of all RB tumors. It plays a role in RB oncogenesis via many mechanisms, including synergism with RB1 deletion, positive feedback with MDM2, upregulation of cell cycle regulating genes, upregulation of miRNA, and upregulation of glucose metabolism. MYCN amplifications are not mutually exclusive and can occur even in the presence of RB1 gene mutations. Clinically, RB1+/+MYCNA tumors present as sporadic, unilateral, advanced tumors in very young children and tend to follow an aggressive course. Magnetic resonance imaging features include peripheral tumor location, placoid configuration, retinal folding, tumor-associated hemorrhage, and anterior chamber enhancement. Genetic testing for MYCNA is especially recommended in patients with unilateral RB where genetic blood testing and tumor tissue show a lack of RB1 mutation. MYCN-targeted therapies are evolving and hold promise for the future.Copyright © 2024 Elsevier Inc. All rights reserved.