Overview
Neurofibroma is a benign peripheral nerve sheath tumor composed of Schwann cells, fibroblasts, perineurial-like cells, and mast cells embedded in an extracellular matrix rich in collagen. These tumors arise from peripheral nerves and can occur anywhere in the body, including the skin (cutaneous neurofibromas), along peripheral nerves (localized neurofibromas), or as large, infiltrative growths involving multiple nerve fascicles and surrounding tissues (plexiform neurofibromas). Neurofibromas may present as solitary sporadic lesions or as multiple tumors in the context of neurofibromatosis type 1 (NF1), a genetic condition caused by pathogenic variants in the NF1 gene on chromosome 17q11.2. Solitary neurofibromas can also occur in individuals without NF1. Clinically, neurofibromas typically present as soft, painless, skin-colored or slightly pigmented nodules. Cutaneous neurofibromas are generally superficial and rarely cause significant complications beyond cosmetic concerns. However, plexiform neurofibromas can be disfiguring, may compress adjacent structures including the spinal cord or major nerves, and carry a risk of malignant transformation to malignant peripheral nerve sheath tumors (MPNSTs), estimated at 8–13% over a lifetime in NF1 patients. Symptoms depend on tumor location and size and may include pain, neurological deficits, functional impairment, or disfigurement. Treatment of neurofibromas is primarily surgical, with complete excision being the standard approach for symptomatic or cosmetically bothersome lesions. However, plexiform neurofibromas are often difficult to resect completely due to their infiltrative nature. In 2020, the MEK inhibitor selumetinib (Koselugo) was approved by the FDA for the treatment of symptomatic, inoperable plexiform neurofibromas in pediatric patients with NF1, representing a significant advance in medical therapy. Ongoing clinical trials are evaluating additional targeted therapies. Regular monitoring for growth, symptom progression, and signs of malignant transformation is an essential component of long-term management.
Clinical phenotype terms— hover any for plain English:
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
5 eventsAstraZeneca — NA
AstraZeneca — NA
Centre Leon Berard — NA
SpringWorks Therapeutics, Inc. — PHASE2
National Cancer Institute (NCI) — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Neurofibroma.
5 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Children's Hospital Colorado
📍 Aurora, Colorado
👤 Zachary Grinspan, MD
Arkansas Children's Hospital
📍 Little Rock, Arkansas
Children's Hospital of Orange County
📍 Orange, California
👤 Richard Neibeger, MD
Children's National Medical Center
📍 Washington D.C., District of Columbia
👤 Richard Neibeger, MD
Research Site
📍 Los Angeles, California
👤 AstraZeneca Clinical Study Information Center
Mayo Clinic Hospital
📍 Phoenix, Arizona
Harvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
Travel Grants
No travel grants are currently matched to Neurofibroma.
Community
No community posts yet. Be the first to share your experience with Neurofibroma.
Start the conversation →Latest news about Neurofibroma
Disease timeline:
New recruiting trial: Evaluation of Percutaneous Cryotherapy in the Treatment of Plexiform Neurofibromas and Unresectable Neurofibromas in Neurofibromatosis Type 1
A new clinical trial is recruiting patients for Neurofibroma
New trial: Phase I Trial of TURALIO(R) (Pexidartinib, PLX3397) in Children and Young Adults With Refractory Leu
Phase PHASE1 trial recruiting. TURALIO(R)
New trial: MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexifo
Phase PHASE2 trial recruiting. Mirdametinib (PD-0325901) oral capsule or dispersible tablet
New trial: Evaluation of Percutaneous Cryotherapy in the Treatment of Plexiform Neurofibromas and Unresectable
Phase NA trial recruiting. Cryotherapy
New trial: Observational Study to Evaluate the Effect and Safety of Selumetinib in Pediatric Patients With NF1-
Phase NA trial recruiting.
New trial: Non-interventional Study of Patients With PN NF1 Starting Selumetinib in Russia
Phase NA trial recruiting.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Neurofibroma
What is Neurofibroma?
Neurofibroma is a benign peripheral nerve sheath tumor composed of Schwann cells, fibroblasts, perineurial-like cells, and mast cells embedded in an extracellular matrix rich in collagen. These tumors arise from peripheral nerves and can occur anywhere in the body, including the skin (cutaneous neurofibromas), along peripheral nerves (localized neurofibromas), or as large, infiltrative growths involving multiple nerve fascicles and surrounding tissues (plexiform neurofibromas). Neurofibromas may present as solitary sporadic lesions or as multiple tumors in the context of neurofibromatosis type
Are there clinical trials for Neurofibroma?
Yes — 5 recruiting clinical trials are currently listed for Neurofibroma on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Neurofibroma?
25 specialists and care centers treating Neurofibroma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.