Pediatric neurofibromatosis (NF)

What is Pediatric Neurofibromatosis (NF)?

Neurofibromatosis is a genetic condition (passed down from parent to child) in which tumors grow on the nerve tissue. Typically, the tumors are benign (noncancerous), but can sometimes become malignant (cancerous). These tumors can develop anywhere throughout the nervous system, such as the brain, spinal cord or nerves.

The Neurofibromatosis Program at the Gill Center for Cancer and Blood Disorders is the largest pediatric neurofibromatosis (NF) program in North Texas and the only regional program affiliated with the Children’s Tumor Foundation.

Under the leadership of UT Southwestern professor of pediatrics and neurological surgery Laura Klesse, M.D., Ph.D., the number of active patients in the program has doubled and continues to grow. The Neurofibromatosis Program at Children’s Health currently treats patients with all types of neurofibromatosis – the more common neurofibromatosis type 1 as well as the less common NF2-related schwannomatosis.

The growth of our program reflects the effectiveness of our comprehensive approach to patient care and our ability to leverage clinical trials to the benefit of patients.

What are the different types of Pediatric Neurofibromatosis (NF)?

There are several types of neurofibromatosis:

Neurofibromatosis 1

Neurofibromatosis 1 (NF1) – This condition usually appears shortly after birth, and almost always by age 10. This is the most common form of NF.

NF2-related schwannomatosis (NF2-SWN)

NF2-related schwannomatosis (NF2-SWN) – Much less common than NF1, this condition usually appears by the late teen (15 to 17 years*) or early adult years (18 to 25 years*). In this condition, tumors known as acoustic neuromas grow in both ears, affecting hearing and balance.

Other Forms of schwannomatosis:

A rare condition, usually diagnosed in late teens or early adulthood that can results in painful tumors on any nerve.

What are the signs and symptoms of Pediatric Neurofibromatosis (NF)?

Neurofibromatosis 1

Signs and symptoms of NF1 can vary in severity over time and include:

• Below average height
• Bone deformities
• Curvature of the spine (scoliosis)
• Flat, light brown spots on the skin (called café au lait spots)
• Learning disabilities
• Soft bumps on or under the skin (neurofibromas)
• Tiny bumps on the iris of the eye (Lisch nodules)
• Tumor on the optic nerve (optic glioma)
• Unusually large head

NF2-related schwannomatosis

Individuals with NF2-SWN may experience some or all of the following symptoms:

• Cataracts
• Difficulty balancing
• Facial drop (face has lost muscle tone and appears to be drooping)
• Gradual hearing loss
• Headaches
• Numbness and weakness in the arms or legs
• Pain
• Poor balance
• Ringing in the ear
• Vision problems

Other forms of Schwannomatosis

The main symptoms of schwannomatosis are:

• Chronic pain anywhere in the body
• Loss of muscle
• Numbness or weakness anywhere in the body

*Age of late teen and early adult as defined by the Centers for Disease Control (CDC).

How is Pediatric Neurofibromatosis (NF) treated?

Neurofibromatosis 1

Children with neurofibromatosis 1 can develop several health conditions including benign and malignant tumors, headaches, seizures and hypertension. Children with NF1 may also have learning or behavioral challenges. Due to these conditions, medical treatment may include medication, surgery, or chemotherapy, among other interventions.

Coordinating Care

NF is the most common cancer predisposition syndrome in children. Managing this chronic disease year in and year out requires continuity of care with a focus on screening and access to subspecialists. To that end, the NF Program has weekly clinics to accommodate annual or more frequent office visits for all patients. These visits allow us to track patient health and serve as the coordination point for regular screenings – such as ophthalmological and neuropsychology evaluations, for example.

Once a month, complex NF cases are brought before a comprehensive board of subspecialists to develop and coordinate medical treatment plans. The board includes not only medical subspecialists, such as neurologists, neuropsychologists and ophthalmologists, but also school services specialists and surgical subspecialists. Given this breadth of expertise, all NF-related issues receive the best possible treatment.

Pediatric Neurofibromatosis (NF) Research

The Gill Center’s NF program is a member of the National Neurofibromatosis Clinical Trial Consortium and is the only consortium site in Texas. Several clinical trials are ongoing for the complications of NF1 and NF2-SWN. The program is also participating in a multi-institution trial to follow NF associated optic gliomas, attempting to identify factors which indicate therapy may be necessary.

The current open clinical trials for NF patients include:

• Efficacy and Safety of REC-2282 in Patients With Progressive
• A Study of the Drugs Selumetinib vs. Carboplatin and Vincristine in Patients With Low-Grade Glioma
• NF110: Open label, Phase II clinical trial of Crizotinib for children and adults with NF2 and progressive vestibular schwannomas.
• NF111: A Phase 2 Trial of PolyICLC for progressive previously treated low grade gliomas in children and young adults with neurofibromatosis type 1.
• NF114: Phase 2 Trial of Selumetinib for the prevention of plexiform neurofibroma growth and morbidity in neurofibromatosis type 1.
• There are 2 other trials in process, NF115; NF119

Finally, our program has a bio specimen repository aimed at collecting samples from both patients and family members to identify potential genetic modifiers of tumors associated with NF1.