Chan Marcus C Y, Fung Kevin K F, Ng Wai-Fu, Luk Ho-Ming, Ku Dennis T L, Liu Anthony P Y
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.
Department of Radiology, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China.
Front Oncol. 2024 Jul 12;14:1433073. doi: 10.3389/fonc.2024.1433073. eCollection 2024.
We present the clinical course of a 4-year-old girl with neurofibromatosis type 1-associated, unresectable, symptomatic urinary bladder ganglioneuroma. She was initially trialed on sirolimus without response and subsequently responded to MEK inhibitor trametinib, with improvement clinically and radiographically over 10 months. This report broadens the repertoire of therapeutic strategies for MEK inhibition in diseases related to the MAPK pathway.
我们报告了一名4岁患1型神经纤维瘤病相关、不可切除、有症状的膀胱神经节神经瘤女孩的临床病程。她最初接受西罗莫司治疗但无反应,随后对MEK抑制剂曲美替尼有反应,在10个月内临床和影像学表现均有改善。本报告拓宽了与MAPK通路相关疾病中MEK抑制治疗策略的范围。