Peer-reviewed article
NFB-03. TRAMETINIB FOR ORBITAL PLEXIFORM NEUROFIBROMAS IN YOUNG CHILDREN WITH NF1
Toledano H, Dotan G, Friedland R, Cohen R, Yassur I et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a clinical case study of a drug treatment (trametinib) for a rare genetic tumor condition (neurofibromas) in young children with neurofibromatosis type 1. While the work involves children, it is a medical intervention for a specific disease rather than an assessment of child well-being outcomes. The report describes tumor size reduction and some symptom relief in five children treated with this medication.
Key points
- Five young children (mean age 26.8 months) with orbital plexiform neurofibromas received trametinib treatment
- Tumor volume reduced by 8-26% at one year, with maximum reductions of 45% in two patients
- Side effects were primarily mild skin and nail toxicities (grades 1-2)
- One child reported decreased orbital pain; another showed improved ability to chew
- No improvement in visual function was recorded despite tumor size reduction
Limitations
This is a small case series of five children with no comparison group, making it impossible to determine if observed changes would have occurred naturally or with alternative treatments. The lack of visual function improvement despite tumor reduction raises questions about the clinical significance of the intervention.
Abstract
Abstract Plexiform neurofibromas (PN) in NF1 are diagnosed in early childhood and may grow rapidly during this period. In 10% of patients they involve the orbital-periorbital area and may cause visual problems including glaucoma and visual loss from amblyopia (deprivational, strabismic, or refractive), optic nerve compression or keratopathy. Ptosis, proptosis and facial disfigurement lead to social problems and decreased self-esteem. Complete surgical removal is usually impossible and there is a tendency for regrowth after debulking. Recently inhibitors of the RAS/MAPK pathway have been investigated for their activity in PN. We describe 5 young children with NF1 and PN of the orbital area treated with the MEK inhibitor trametinib followed clinically and by volumetric MRI. Treatment was initiated at mean age 26.8 months (SD ±12.8) and continued for median 25 months (range 17– 48). Reasons for initiating treatment were visual compromise and progressive tumor growth. Doses were as recommended. One child reported decreased orbital pain after one week and another, with involvement of the masseters, had increased ability to chew food. Toxicities were mostly to skin and nails grades 1–2 as expected. Additionally, 60% had debulking surgery of preseptal eyelid tumor in first year of medical treatment. Volumetric MRI measurements showed reduction of 8–26% at 1 year from baseline with a maximal reduction of 45% in two patients at 22 & 45 months. No change in visual function was recorded following treatment initiation. In conclusion, trametinib may decrease tumor size in young children with orbital PN and may prevent progressive disfigurement.