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Comprehensive, Coordinated Care

Patients with neurofibromatosis (NF) receive exceptional, comprehensive care at Cincinnati Children’s. The NF Program at Cincinnati Children’s is led by geneticists who work closely with oncologists, neurologists, orthopedists and other specialists to provide coordinated, expert diagnosis and treatment.

Our program, one of the largest in the nation, serves as a resource to patients and families affected by the different types of NF through comprehensive diagnosis, treatment and research for these conditions.

Established in 1986, our program includes pediatric and adult NF clinics, as well as NF neurology, orthopedic, and oncology clinics for patients with central nervous system and plexiform tumors.  Since its inception, our program has evaluated and managed more than 1,500 patients with neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), segmental NF and schwannomatosis.  Our program was one of the first 20 programs chosen by the Children’s Tumor Foundation (CTF) to be part of the national NF Clinic Network, and was one of the initial nine centers chosen to be part of the NF Clinical Trials Consortium.

The Center’s mission is to provide excellent patient care and to participate in NF science and research. Our multidisciplinary center has expertise in all areas of NF care, with special emphasis on:

  • Treatment of brain tumors, plexiform neurofibromas, malignant peripheral nerve sheath tumors (MPNSTs) and cancers
  • Optic pathway gliomas and other gliomas associated with NF1
  • Orthopedic management of scoliosis and tibial dysplasia (abnormality of bone formation in the lower leg)
  • Schwannomatosis
  • Learning disabilities and Attention Deficit Hyperactivity Disorder (ADHD)
  • Medical and surgical management of vestibular schwannomas (tumors on hearing nerve) in NF2
  • Screening for NF complications
  • Pain and overall medical management of NF

Leadership in research is an essential component of our commitment to patients and families. Our team is dedicated to finding a cure through laboratory and clinical research. Cincinnati Children’s physicians and researchers play an active role in many national and international research studies as well as develop their own innovative protocols. This research provides our patients with early access to new therapies, sometimes years before they become widely available.

Cincinnati Children’s is one of only a small number of hospitals in the country that is part of the Children’s Oncology Group Phase I Consortium and the Neurofibromatosis Clinical Research Consortium. Many of our physicians serve in leadership positions for these and other pediatric cancer organizations, further strengthening our link to the latest clinical research opportunities.

What is NF?

NF is the term for a set of genetic disorders whose primary feature is the growth of tumors derived from nerve cells. NF1 is the most common type, affecting one in 3,000 births. NF1 can be characterized by changes in skin pigment, tumors, bone abnormalities and frequent learning disabilities. Segmental NF is a mosaic form of NF1 where features are only seen in a limited segment of the body rather than the entire body.

NF2 is a separate genetic disorder and characterized by tumors of the eighth cranial nerves and other nerves, which can result in hearing loss and other complications.

Schwannomatosis is a rare form of NF. Patients with schwannomatosis develop multiple schwannomas (Schwann cell tumors) on cranial, spinal and peripheral nerves, without other signs of NF1 or NF2. These tumors are often limited to a single segment of the body.

Patients who have a family history of NF1 are not at increased risk for NF2 and vice versa. A clinic specifically for adults with NF and complex medical issues is held once monthly at the Hoxworth Building at UC Health and is staffed by Dr. Elizabeth Schorry and Dr. Caroline Mueller. UC Health specialists are available for consultation in various specialties as needed. For appointments, call 513-636-1861.

Diagnostic Criteria

The diagnosis of NF1 is established in patients having TWO OR MORE of the features listed below:

  • Six or more café-au-lait spots measuring at least 5 mm before puberty or 15mm after puberty
  • Two or more neurofibromas or one plexiform neurofibroma
  • Freckles in the axilla (armpits) or groin
  • Lisch nodules on the iris of the eye
  • Optic nerve glioma
  • Characteristic abnormality of bone such as sphenoid wing dysplasia or anterolateral bowing of the lower leg, with or without pseudarthrosis
  • A diagnosis of NF1 in a first-degree family member (parent, sibling or offspring)

Legius syndrome is a rare, recently diagnosed disorder whose features overlap those of NF1.  Patients with Legius syndrome may have:

  • Café-au-lait spots
  • Armpit freckling
  • Learning disabilities

Patient with this syndrome lack the tumors often seen in NF1.  It is due to a gene (SPRED1) that involves the same pathway as the NF1 gene.  Specialists at the NF clinic can provide genetic testing for Legius syndrome if it is indicated.

A diagnosis of NF2 is established in a patient who has:

  • Bilateral vestibular schwannomas (also known as acoustic neuromas) OR
  • Family history of NF2 in a first degree relative, PLUS
  • A single (unilateral) vestibular schwannoma OR
  • Any two of the following:
    • Meningioma
    • Glioma
    • Schwannoma
    • Juvenile posterior cataract
Schwannomatosis is a recently identified rare disorder.  Patients with schwannomatosis are predisposed to develop multiple schwannomas (Schwann cell tumors), on spinal nerves or peripheral nerves, but without other signs of NF1 or NF2. The schwannomas are often painful.   Genes for schwannomatosis are located on chromosome 22, closely linked to the gene for NF2. 

Comprehensive, Multidisciplinary Team Approach

Leading our team are oncologists and genetic specialists who have extensive experience caring for NF patients and conducting clinical research. Members of the team include physicians specializing in:

Nursing Excellence

Nurses play an integral role on the multidisciplinary team, providing patient care and extensive education. Cincinnati Children’s is known for nursing excellence. In 2018, the medical center again received Magnet status from the American Nurses Credentialing Center. Only about 8 percent of US hospitals have achieved this status from the Magnet Recognition Program.

Among the Best

The Cancer and Blood Diseases Institute was rated among the best in the country in the list of Best Children’s Hospitals published by US News & World Report.
Our cancer program is ranked No. 6 in the nation by U.S. News & World Report. Learn More