Case report: Treatment response of NF-1-associated bladder ganglioneuroma to trametinib

Front Oncol. 2024 Jul 12:14:1433073. doi: 10.3389/fonc.2024.1433073. eCollection 2024.

Abstract

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.

Keywords: MAPK pathway; MEK inhibitor; ganglioneuroma; neurofibromatosis type 1 (NF-1); targeted therapy.

Publication types

  • Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work is supported by the Health and Medical Research Fund (Commissioned Paediatric Research at Hong Kong Children’s Hospital, PR-HKU-6), Food and Health Bureau, Hong Kong SAR Government.