Treatment options for neurofibromatosis type 1

Treatment for neurofibromatosis type 1 may involve surgery, radiation, chemotherapy, or other methods. In some cases, doctors may take a “wait and see” approach.

Neurofibromatosis type 1 (NF1), formerly known as von Recklinghausen disease, is a genetic condition that causes tumor growth along nerves, changes in skin pigmentation, and irregularities in bone development. It results from a mutation of the NF1 gene and affects an estimated 1 in 2,600 to 3,000 people.

While NF1 can affect each person differently, common symptoms include freckling under the armpits; flat, brown spots of pigmentation called café-au-lait spots; and lumps on or just under the skin.

Most tumors in NF1 are not cancerous, but rare cancers are possible. Malignant peripheral nerve sheath tumors (MPNST) are the most common type of cancer in NF1, affecting about 10% of people who have the condition.

Because NF1 can cause a wide range of symptoms, treatment is very individualized. When creating a treatment plan, doctors consider tumor type and location, as well as challenges related to pain, changes in appearance, and loss of function.

This article reviews the available treatments for NF1 and when doctors might use them.

Surgery allows doctors to remove NF1 tumors when they cause troublesome symptoms or a loss of function. Doctors can fully remove some growths, and the goal of surgery is to preserve tissue and function in the affected area.

However, the location of a tumor can limit the surgical options for removing it. Doctors may have difficulty operating on deep tumors that involve multiple layers of tissue. They might not be able to remove the entire tumor, or the risk of surgery in that location might be too significant.

Doctors might also perform surgery to help treat other challenges that can occur in NF1, such as those related to atypical bone development.

Radiation therapy uses high energy rays to target and destroy specific cells in the body. When treating NF1, doctors may use radiation to:

Because radiation may cause more DNA damage to cells and promote the growth of secondary tumors, doctors use this treatment only in special circumstances and almost never in children.

Chemotherapy uses potent drugs to target and kill cells. As with radiation therapy, doctors use chemotherapy to treat NF1 in specific situations. Doctors may choose chemotherapy when:

Traditionally, in NF1 treatment, doctors reserve chemotherapy for cancers such as MPNST or for delicate, inoperable tumors such as optic pathway gliomas, which develop on the optic nerve.

Kinases are enzymes involved in cell signaling. They play important roles in regulating processes throughout the body. Kinase inhibitors are medications that prevent a specific enzyme from performing its function.

In NF1, kinase inhibitors block the action of the MEK enzyme, which is essential to tumor growth and development. As a result, these medications can help shrink tumors or slow or stop tumor growth. As tumors get smaller, symptoms related to pain, changes in appearance, and loss of function can decrease.

Clinical trials for MEK inhibitors are ongoing, but the Food and Drug Administration (FDA) has approved two of these medications to treat NF1 in people who have inoperable plexiform neurofibromas, one of the most common types of tumors that occur in NF1.

In 2020, the FDA approved selumetinib (Koselugo) for use in people over 1 year of age. In 2025, the FDA approved mirdametinib (Gomekli) for use in people over 2 years of age.

Each person’s comprehensive NF1 treatment plan is unique, but most treatments come with possible side effects.

Doctors may be able to fully remove an NF1 tumor with surgery, but the surgery requires a recovery and rehabilitation period. Removing large, complex tumors can result in tissue damage at the site or a loss of function.

Radiation and chemotherapy can be harsh on the body. Fatigue, hair loss, and skin changes are common side effects. For some people, chemotherapy can lead to more serious challenges, such as anemia or an increased risk of infection. Radiation therapy may raise a person’s risk of developing a secondary cancer.

In rare cases, MEK inhibitors may cause more serious side effects, which can affect the heart, lungs, or eyes.

In addition to treating NF1 tumors, doctors will recommend therapies that help improve function and overall quality of life.

NF1 can lead to issues with bone growth and development, and tumors can affect nerve function and cause chronic pain. Many people experience challenges with movement and motor skills over time.

A physical therapist can help people with NF1 improve their coordination, strength, and endurance and maintain mobility at any age.

For children with NF1, physical therapy plays a crucial role in supporting proper physical growth and development.

Not everyone with NF1 needs aggressive treatment right away. If symptoms are not serious, doctors will weigh the benefits and risks of treatment and may instead take a “wait and see” approach.

Treatments come with side effects, some of which can be unpleasant or serious. If a person’s NF1 tumors and symptoms are not causing problems, doctors may recommend waiting and monitoring for significant changes.

There is no cure for NF1, and moderate to severe symptoms can lead to a reduced quality of life.

In 2018, the American College of Medical Genetics and Genomics noted an association between NF1 and an 8- to 15-year decrease in life expectancy. However, advances in treatment may reduce that gap over time.

NF1 is a genetic disorder that causes tumor growth along the nerves, irregularities in bone development, and changes in skin pigmentation. It can affect each person differently, and treatment plans may vary from person to person.

Doctors treat NF1 with careful monitoring until symptoms become problematic. Then, surgery is usually the first-line treatment. When tumors are inoperable, doctors consider newer therapies such as MEK inhibitors to slow down or stop tumor growth.