NF1 awareness gap: Many doctors still don't know systemic treatment exists

A NeurologyLive and Targeted Oncology clinical forum in Houston brought together oncologists, hematologists, and neurologists to tackle a persistent problem in neurofibromatosis type 1 (NF1) care: patients with plexiform neurofibromas (PN) are routinely diagnosed late, often incidentally, and frequently never reach systemic treatment. Forum leader Dr. Kevin Bielamowicz of Arkansas Children's Hospital noted that NF1 patients often "age out" of pediatric specialty clinics with no clear follow-up plan, leaving them to manage a progressive condition without structured care.

Surgery, long the default for PN, frequently falls short because these tumors infiltrate nerves and surrounding tissue, making complete removal nearly impossible and regrowth common. MEK inhibitors — selumetinib and mirdametinib — have emerged as key treatment options, with one case showing a 24% tumor volume reduction at one year, a result Dr. Bielamowicz called clinically meaningful for pain, swelling, and appearance.

Key Takeaways:

• NF1 affects roughly 1 in 3,000 births, yet many physicians report never learning about systemic treatment options during training
• Pediatric residents at one major institution receive just a single mention of NF1 across three years of residency
• Attendees flagged awareness — not cost or access — as the top barrier to care

Why it matters: When physicians don't know a treatment exists, patients don't get it. Closing the education gap for referring doctors and starting MEK inhibitor therapy earlier could meaningfully reduce the burden of a disease that too often hides behind another diagnosis.