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| Disease found: | Neurofibromatosis 1 |
| Current as of: | October 8, 2024 |
| Disease Overview: | Variants in NF1 gene lead to nonfunctional neurofibrin protein (a tumor suppressor); leads to high rate of benign neurofibroma tumors and increased risk of malignant tumors. [more info] |
| Signs and Symptoms: | Usually presents < 3 years of age with 2+ of the criteria in "Diagnosis". Neurofibromas can occur in any organ, often numbering in the hundreds-thousands; may cause pain, disfigurement. Intracranial tumors may cause visual defects, precocious puberty. Bony deformities (e.g. scoliosis) are common. Hypertension, learning disabilities, and seizures are common. [more info] |
| Diagnosis: | Presence of 1 of the following 8 criteria is suggestive; presence of 2 or more constitutes a diagnosis: (1) 6+ cafe-au-lait spots (between 5 and 15 mm, smooth "Coast of California" borders); (2) Axillary or inguinal freckling; (3) 2+ neurofibromas or 1+ plexiform neurofibroma; (4) optic pathway glioma; (5) 2+ Lisch nodules (on iris); (6) distinct osseous lesion (sphenous dysplasia, bowing of a long bone); (7) parent with NF1; (8) germine variant of NF1 gene. Genetic testing is available but there are patients with NF1 who lack an identifiable NF1 variant; a negative genetic test does not exclude NF1 in the presence of clinical criteria. [more info] |
| Treatment: | Neurofibromas need only be removed if symptomatic/disfiguring to the patient. Plexiform lesions may shrink in size with selumetinib. Malignancies if present are typically treated with standard of care for that tumor type. [more info] |
| Clinical Management: | NF1 patients have high cancer risk; regular surveillance is very important for detecting signs of malignancy early and should include annual detailed physical exam, ophthalmalogic exam (in children), brain MRI if neurologic signs/symptoms present, breast MRI (women > 30). Annual physical exam should also assess for MSK deficits, HTN and cardiac disease, neurodevelopment (in children). [more info] NF1 payment assistance is available for patients. |
| Referral: | Patients may need a multidisciplanry team with neurologists, ophthalmologists, oncologists, and others. Several large hospitals have dedicated NF1 clinics including: Texas Children's Hospital (Houston, TX 77030; 832-822-4280), Children's Hospital of Philadelphia (Philadelphia, PA 19104; 215-590-7012), Massachusetts General Hospital (Boston, MA 02114; 617-724-7856), Cleveland Clinic Children's (Cleveland, OH 44195; 216-442-5069). The Neurofibromatosis Network runs a Find a Doctor page to locate specalists who treat NF1. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Patients may join the NF Registry to be automatically notified when new trials are available that may interest them. A large number of clinical trials are currently recruiting. |