Pediatric Oncology Branch: Neurofibromatosis

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects 1:3000 individuals. It is characterized by the development of tumors such  as: 

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• neurofibromas
• plexiform neurofibromas
• optic pathway tumors
• juvenile myelomonocytic leukemia (a rare form of leukemia)
• malignant peripheral nerve sheath tumors (an aggressive type of cancer called a sarcoma)
• pheochromocytoma (a rare tumor of the adrenal glands, which can cause high blood pressure and flushing)

In addition, NF1 can manifest in any organ system and can lead to problems such as hypertension (high blood pressure), scoliosis (curvature of the spine), and learning problems.

The Branch's Pharmacology and Experimental Therapeutics (PET) Section has developed early treatment trials for NF1-related plexiform neurofibromas, which cannot be easily resected, and for patients with a rare type of cancer called malignant peripheral nerve sheath tumors (MPNST). In addition, a natural history trial has been developed. This is not a treatment study, and individuals with NF1 are followed regularly for their tumor and non-tumor manifestations. A better understanding of the natural history of NF1-related tumor and other manifestations will be helpful for developing trial endpoints, designing treatment studies and developing effective treatments for NF1.

Neurofibromatosis type 2 (NF2) is a genetic disorder that affects 1:25,000 individuals. The hallmark feature of NF2 is the development of bilateral vestibular schwannomas (tumors arising from the nerves important for hearing and balance), but individuals with NF2 also develop other tumors, including cranial meningiomas, ependymomas, spinal tumors, and intradermal schwannomas. A clinical trial for patients with NF2 and progressive vestibular schwannomas is expected to open for accrual soon.

Contact Information

Phase I and II trials for refractory cancers, including medullary thyroid carcinoma:
Contact Trish Whitcomb (301-496-0128, whitcomt@mail.nih.gov)

Neurofibromatosis type 1 and 2 trials:
Contact Andrea Baldwin (201-594-9976, baldwina@mail.nih.gov)

Children’s Oncology Group Phase I consortium trials:
Contact Anne Goodwin (301-594-4762, goodwina@mail.nih.gov) or Wendy Goodspeed (301-594-4762, goodspew@mail.nih.gov)