Cheng Haiyan, Lin Yu, Yang Wei, Chang Xiaofeng, Feng Jun, Yang Shen, Liu Shan, Yu Tong, Peng Xiaojiao, Zheng Panpan, Zhang Chengyue, Jia Haiwei, Qin Hong, Wang Huanmin
Department of Oncology Surgery, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, 100045, China.
Medical Imaging Center, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, 100045, China.
Discov Oncol. 2024 Feb 25;15(1):48. doi: 10.1007/s12672-024-00898-1.
To investigate the clinical features, treatment strategies, and prognosis of neuroblastoma with bilateral blindness.
The clinical data of five patients with bilateral blindness neuroblastoma admitted to Beijing Children's Hospital from April 2018 to September 2020 were retrospectively collected to summarize their clinical characteristics.
All patients were female and the median age at presentation was 25 (23, 41) months. The median intervention time from the onset of symptoms of bilateral blindness to the start of treatment was 10 (10, 12) days. All five cases were staged as stage M and grouped as high risk. Four cases were MYCN gene amplification and one case was MYCN acquisition. Five children were treated according to a high-risk neuroblastoma treatment protocol. Four children did not recover their vision after treatment, and one case improved to have light perception. All patients were effectively followed up for a median of 20 (12, 31) months, with three deaths, one tumor-free survival, and one recurrent tumor-bearing survival.
Neuroblastoma with bilateral blindness is rare in the clinic, mostly in children of young age, and is often associated with MYCN amplification and multiple metastases. Early hormone shock therapy and optic nerve decompression are beneficial for preserving the child's vision. A joint multi-disciplinary treatment may help in the formulation of treatment decisions. Achieving a balance between good visual preservation and survival within the short optic nerve neurotherapeutic window is extremely challenging.
探讨双侧失明神经母细胞瘤的临床特征、治疗策略及预后。
回顾性收集2018年4月至2020年9月在北京儿童医院收治的5例双侧失明神经母细胞瘤患者的临床资料，总结其临床特点。
所有患者均为女性，就诊时中位年龄为25（23，41）个月。从双侧失明症状出现到开始治疗的中位干预时间为10（10，12）天。5例均为M期，归为高危组。4例为MYCN基因扩增，1例为MYCN获得。5例患儿按照高危神经母细胞瘤治疗方案进行治疗。4例患儿治疗后视力未恢复，1例改善至有光感。所有患者均得到有效随访，中位随访时间为20（12，31）个月，3例死亡，1例无瘤生存，1例带瘤复发生存。
双侧失明神经母细胞瘤临床罕见，多见于幼儿，常伴有MYCN扩增及多发转移。早期激素冲击治疗及视神经减压有利于保护患儿视力。多学科联合治疗有助于制定治疗决策。在短的视神经治疗窗内实现良好的视力保留与生存之间的平衡极具挑战性。
