Neurofibromatosis (NF) is an unpredictable, progressive disorder that causes tumors to form in the nervous system, specifically in and around nerve cells. These tumors can show up anywhere, including the brain, spinal cord, adrenal gland, eyes and muscle tissue.
While neurofibromatosis tumors are usually benign, they can pose health risks. Some tumors can lead to disfigurement. Growths on or near the spinal cord and surrounding nerves can cause to paralysis. In about 10% of cases, these tumors become malignant cancers. For patients whose tumors pose serious health risks, early detection is key.
What are the types of neurofibromatosis?
Neurofibromatosis itself is actually a collection of three genetic disorders. Each disorder can be inherited from a parent or be a new, random mutation that exists in every cell’s DNA. In both cases the condition can be passed down to the patient’s children.
Approximately 100,000 Americans have an NF disorder. The most diagnosed type, NF1, affects around 1 out of every 3,500 births. Most NF1 patients have mild to moderate symptoms, but it is a progressive disorder that can lead to disfigurement, skeletal abnormalities and learning disabilities.
NF2 is much rarer than NF1 and is characterized by tumors on the vestibular nerve.
NF2 brings an increased risk of other types of nervous system tumors and may cause severe vision problems.
Schwannomatosis is also very rare. It is defined by the presence of multiple schwannomas (tumors that grow around nerves without involving the skin or other organs) everywhere in the body except on the vestibular nerve.
What are the risk factors for neurofibromatosis?
Neurofibromatosis is caused by one of three genetic mutations that are either inherited from a parent or that seem to develop randomly in an individual. People with one of these mutations will develop the disorder. There are no steps that can prevent the disease.
Children with one parent with neurofibromatosis have a 50% chance of inheriting the gene and developing the disease. Individuals with the disease should get genetic counseling for themselves and for their children.
Learn more about neurofibromatosis:
Neurofibromatosis is a genetic condition that runs in families. If you have neurofibromatosis, or if you have a family history of the disease, we recommend genetic counseling. Visit our genetic testing page to learn more.
What is neurofibromatosis type 1?
Neurofibromatosis is a collection of three different genetic disorders that cause fibrous tumors to form around nerves in the body. Neurofibromatosis type 1 (NF1) is the most common of the three disorders.
We spoke with John Slopis, M.D., director of MD Anderson’s neurofibromatosis program, to learn more about NF1.
What is neurofibromatosis type 1?
NF1 is a genetic mutation of chromosome 17 that can be inherited from a parent or can develop randomly in an individual. It causes tumors to form in the nervous system. Roughly 1 in 3,000 people carry this genetic mutation at birth.
What are the symptoms of neurofibromatosis type 1?
There’s a broad range in severity of symptoms for patients with NF1. We may not see the symptoms right away, and some people won’t even know they have it. There may be skin markings, such as café-au-lait spots, which look like large freckles on the skin. There may also be neurofibromas, which are small benign nerve tumors that appear as little bumps on the skin. Dystrophic scoliosis is also associated with NF1. This is when the spine is unformed or abnormally formed in a twisted position, resembling a corkscrew.
Abnormalities in children can occur in the long bones, particularly the legs, and sometimes the arms. Often a child who begins to walk freely suddenly has a curved bone in their leg that fractures. This could lead to amputation of that limb, though that’s rare. In newborn babies and in the first couple of years of life, we’re looking for bone problems and scoliosis. We’re also looking for tumors of the optic nerve (from the eye to the brain); 15% of children with NF1 will have an optic nerve tumor. If they’re unrecognized and allowed to grow, they can damage a child’s vision. The tumor can also grow within the eye socket, begin to expand and push the eye out. This is called proptosis or bulging eyes. If we’re not paying close attention, we might miss one of those optic nerve tumors that can become problematic, usually around age 2 or 3.
How is neurofibromatosis type 1 typically diagnosed?
We often do a physical exam, or we can conduct genetic testing to diagnose NF1. Half of all cases will have a negative family history. This means the child or young adult diagnosed doesn’t have a family history of the disease and that the NF1 is likely the result of a spontaneous mutation. The features of neurofibromatosis begin to reveal themselves as people grow through childhood. While diagnosing a patient during our first meeting, we spend a lot of time looking through the patient's physical characteristics and trying to get some idea if it will be a mild or severe case.
There are also situations where we’ll see a child and start to look closely at the parents and realize a parent has NF1, too. This is important because we can get an idea of where things may go for the child. Even more importantly, we can make sure that the parent is evaluated and is not at risk for some underlying, less obvious problems that could be related to NF1.
How often do neurofibromatosis type 1 tumors become cancerous?
Tumors that affect vision are usually not malignant. They are low-grade types of brain tumors. What makes them dangerous is their location and ability to grow slowly and damage structures around them.
But in some cases, a neurofibroma can transform from a benign lump around the nerves to true cancer. That’s a type of sarcoma called Malignant Peripheral Nerve Sheath Tumor (MPNST). This type of cancer needs to be treated quickly. If we can diagnose it early, frequently the tumor can be removed to spare the nerve and the function of that limb. Between 5% and 10% of patients with NF1 will develop a malignant tumor at some point in their lives. More rare tumors, like tumors of the adrenal gland, can cause a drastic rise in blood pressure and be damaging as well. In rare cases, NF1 can also be associated with other cancers, such as breast cancer or leukemia. We're always on the lookout for benign tumors that become cancerous. That's part of what we do every time we visit with a patient, whether it's a child or an adult.
What are the treatment options for neurofibromatosis type 1?
If we detect a problem with a bone or formation of the spine, we immediately refer those patients to centers with highly experienced pediatric orthopedic surgeons.
NF1 tumors can affect the nerves, as well as the tissues surrounding and/or connected to the nerves. During adolescence and sometimes earlier, neurofibromas can appear in the skin. Fat cells, elastic cells, blood vessels and tiny nerves will all be involved in these overgrowth syndromes. They’re almost always benign, but sometimes children and adults will get plastic surgery to remove them.
We have targeted therapies that are designed to slow and reduce the growth of neurofibromas deep inside the body, but they’re not as effective for the skin. We’re doing clinical trials where we use this same type of medication in a cream or gel and patients can rub them on the neurofibromas to try to shrink them. I’m hoping the Food and Drug Administration (FDA) will approve these medications for the public in the next couple of years.
What are common long-term side effects for people with neurofibromatosis type 1?
The most common issue in children is brain function. About 60% of children with NF1 will have ADHD, which is often coupled with dyslexia. Additionally, about 40% will struggle with math skills. And then when the child starts to print and write, dysgraphia will complement dyslexia. Children with NF1 often struggle with these learning disabilities. Their brains work differently, and they need to learn differently. As part of our neurofibromatosis program at MD Anderson, we developed a school intervention program. After we test the children with a neuropsychological assessment to figure out their strengths and weaknesses, we have an educator who goes to the school and helps advocate for the appropriate modifications for that child. This has been extremely helpful for our patients.
Why should patients choose MD Anderson for their neurofibromatosis type 1 care?
We have an extremely comprehensive neurofibromatosis program. Many of us have been working together for 20 years or more, and we have the knowledge and expertise in almost every subspecialty to help patients manage problems associated with NF1. We understand the disorder as it relates to before birth through adulthood. We have oncologists who can treat malignant tumors, sarcoma specialists for pediatrics and adults, and experienced surgeons. Sometimes we’ll assume the entirety of care for a child or young adult, or we may share their care with colleagues at other centers if they have strength in certain areas. We do what’s best for the patient.
Request an appointment at MD Anderson online or by calling 1-877-632-6789.
Why choose MD Anderson for your neurofibromatosis treatment?
At MD Anderson we offer customized neurofibromatosis care aimed to help patients live full, active lives. We utilize the most advanced treatments and techniques that offer the best possible outcomes for both pediatric and adult patients.Comprehensive care
Because neurofibromatosis is rare, most physicians have little experience treating it. MD Anderson has one of the largest comprehensive neurofibromatosis programs in the nation. This can make a difference in you or your child's care and quality of life.
As part of a comprehensive cancer center, our neurofibromatosis program can offer the full range of services neurofibromatosis patients may need. We partner with oncologists and surgeons, including teams in neuro-oncology and sarcoma care, to offer the most up-to-date therapies and procedures. We also work with reconstructive surgeons to remove skin tumors and tumors around the eye. And we provide a comprehensive academic/school assessment and intervention program for children with NF and learning disabilities - the first such program in the world.
We appreciate everything, we focus on what matters, and we don't take anything for granted.
MD Anderson's Children's Cancer Hospital
Neurofibromatosis type 1 (NF1) diagnosis fuels nurse educator’s passion for goal concordant care
Tori McClosky’s senior year of high school turned upside down when a tumor was found on her brain. The cause was neurofibromatosis type 1 (NF1), a genetic condition that causes tumors to grow on nerves in the brain and throughout the body.
“I went from planning prom and playing soccer to shaving my hair off and preparing for brain surgery,” she recalls. “It was shocking. I was living my life, and everything was great until I got this news that changed everything.”
In the 20 years since then, McClosky moved from California to Texas, becoming both a nurse and a patient at MD Anderson. Her experiences have provided a unique perspective and fueled her passion for Goal Concordant Care.
Living and working with NF1
It’s not uncommon for people with NF1 to have tumor recurrences throughout their lifetime. That’s been the case for McClosky as well. She’s undergone three additional surgeries on her hip, spine and skin at MD Anderson – all while working as a clinical nurse and assistant nurse manager in the Breast Center.
With each recurrence, McClosky has had routine conversations with her care team to ensure treatment plans align with her goals and values. For example, before her hip surgery, many discussions centered around exercise, an important aspect of McClosky’s mental and physical well-being.
“My surgery included the placement of two screws in my hip – and that made me nervous about not being able to run anymore,” says McClosky. “My care team understood how important that was to me and helped me figure out modifications to exercises that I could do to remain physically active.”
'If it’s important to you, it’s important to us'
McClosky continues to discuss her priorities during regular follow-up appointments with John Slopis, M.D., director of MD Anderson’s neurofibromatosis program. Their open and honest conversations have ensured McClosky gets the most out of life during and after treatments.
This care and these conversations have had a lasting impact on her as a nurse. She is passionate about providing goal concordant care to every patient across the cancer care continuum and encouraging them to be active participants in their care.
“Life doesn’t stop outside of cancer. Every patient has physical, emotional and spiritual needs,” she says. “I want patients to know that if it’s important to them, it’s important to us and we will do everything we can to make it happen.”
Communicating with COMFORT
McClosky now teaches others evidence-based techniques for providing effective and empathetic communication with patients and caregivers as a nurse educator for MD Anderson’s Goal Concordant Care program.
Since July 2023, she’s helped train more than 1,000 nurses and social work counselors using the COMFORT model. COMFORT is an acronym for the basic principles of goals of care communication: Connect, Options, Making Meaning, Family Caregiver, Openings, Relating, Team. Case managers and chaplains will begin taking the classes soon.
“I love my role because I have the opportunity to help others approach complex conversations around patient goals, values and preferences – and provide it from a patient’s perspective,” she says. “It’s not about providing a specific script or magic bullet for what to say to patients and their families, rather, it’s based upon listening and relationship-building, and making a connection to their life outside the clinic.”
Request an appointment at MD Anderson online or call 1-877-632-6789.
