neurofibroma of spinal cord

Neurofibromas of the Spine: A Rare but Important Condition

A neurofibroma of the spine is a rare type of tumor that grows on the nerves exiting the spine. These tumors are typically benign (noncancerous) and arise from the peripheral nerves surrounding the spinal cord.

• Growth Pattern: Neurofibromas of the spine grow on the nerves exiting the spine, and they can compress nerves and cause pain, numbness or weakness if they grow large enough [5].
• Symptoms: Symptoms may include paralysis, weakness or numbness from pressure on their spinal cord or peripheral nerves [4]. Some children who have plexiform neurofibromas develop scoliosis caused by tumors pressing into their spines.
• Type of Tumor: Neurofibromas are symptoms of neurofibromatosis, a rare, inherited group of conditions. They can occur anywhere in the body and are usually benign [3].
• Risk Factors: The only known risk factor for neurofibromas is having the genetic condition known as neurofibromatosis type 1 (NF1) [10].

Key Points to Remember

• Neurofibromas of the spine are rare, benign tumors that grow on nerves exiting the spine.
• They can compress nerves and cause pain, numbness or weakness if they grow large enough.
• Symptoms may include paralysis, weakness or numbness from pressure on their spinal cord or peripheral nerves.
• The only known risk factor for neurofibromas is having the genetic condition known as neurofibromatosis type 1 (NF1).

References

[3] Neurofibromas arise from Schwann cells, which produce the insulating sheath for all nerves outside the brain and spinal cord.

[4] Symptoms may include paralysis, weakness or numbness from pressure on their spinal cord or peripheral nerves.

[5] Spinal neurofibroma tumors are noncancerous growths that arise from the peripheral nerves surrounding the spinal cord.

[10] A neurofibroma can arise with no known cause, or it may appear in people with a genetic condition called neurofibromatosis type 1.

Diagnostic Tests for Neurofibromas of the Spinal Cord

Neurofibromas are benign tumors that can occur on the nerves of the spinal cord, and diagnosing them requires a combination of physical examination, imaging tests, and sometimes genetic testing. Here are some diagnostic tests used to identify neurofibromas affecting the spinal cord:

• Imaging Tests: X-rays, Computed Tomography (CT) scans, and Magnetic Resonance Imaging (MRI) are commonly used to visualize the spine and detect tumors or abnormalities in bones and organs [8][9]. MRI is particularly useful for detailed imaging of the brain and spinal cord, which can help identify neurofibromas [2].
• Blood Tests: Genetic testing can be done through blood tests to confirm the presence of a mutation in the neurofibromatosis type 1 (NF1) gene, which can support the diagnosis of NF1 [1][2]. However, not everyone with NF1 will have an identifiable mutation.
• Biopsy: A biopsy of the tumor taken during surgery can provide a definitive diagnosis by examining the tissue under a microscope [6].
• Electromyography (EMG): EMG is a study that measures the electrical activity of muscles and can help diagnose neurofibromas affecting the nerves [5].

Additional Tests

In some cases, additional tests may be necessary to confirm the diagnosis or rule out other conditions. These may include:

• Detailed Imaging: Additional imaging based on symptoms may reveal schwannomas on peripheral nerves [3].
• Genetic Testing: Genetic testing can be useful in situations where the clinical diagnosis is inconclusive or for prenatal testing [2].

References

[1] Neurofibromatosis Type 1 Genetic Testing. A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present.

[2] Imaging tests. X-rays, CT scans or MRIs can help identify bone changes, tumors in the brain or spinal cord, and very small tumors.

[3] Detailed imaging of the brain and spinal cord by MRI are necessary and additional imaging based on symptoms may reveal schwannomas on peripheral nerves.

[5] Diagnostic tests for these neurofibromas may include magnetic resonance imaging (MRI), computerized tomography (CT) scan or electromyography (EMG).

[6] A biopsy of the tumor taken during surgery can provide a definitive diagnosis by examining the tissue under a microscope.

[8] X-ray to look for tumors and abnormalities in bones and organs.

[9] Magnetic resonance imaging (MRI) to produce detailed images of the brain and spinal cord.

Treatment Options for Neurofibromas of the Spinal Cord

Neurofibromas of the spinal cord can be challenging to treat, and the approach often depends on the size, location, and symptoms caused by the tumor. While surgery is a common treatment option, drug therapy has also been explored as a potential solution.

Corticosteroids for Swelling Reduction

In cases where the tumor is compressing the spinal cord, corticosteroids are immediately administered in high doses to reduce swelling [6]. This can help alleviate symptoms and prevent further damage to the surrounding tissue.

MEK Inhibitors: A Promising Treatment Option

Research has shown that MEK inhibitors, such as selumetinib (Koselugo), can be effective in shrinking plexiform neurofibromas (PNs) in patients with NF1 [3][7]. This treatment option has opened new possibilities for individuals with symptoms due to PNs.

Selumetinib: A FDA-Approved Treatment

Selumetinib has been approved by the U.S. Food and Drug Administration (FDA) for use in patients with inoperable plexiform neurofibromas, a common manifestation of NF1 [10][11]. This approval marks an important milestone in the treatment of this condition.

Other Treatment Options

While surgery is often necessary to remove large or symptomatic tumors, other treatment options may be considered on a case-by-case basis. These can include corticosteroids for swelling reduction and MEK inhibitors for shrinking PNs [5][9].

References:

• [6] Corticosteroids are immediately given in high doses to reduce the swelling caused by compressing the spinal cord.
• [3] The MEK inhibitor selumetinib shrinks the majority of plexiform neurofibromas (PNs) in patients with NF1.
• [7] The effect of selumetinib on SNF was assessed, and it was found to be effective in shrinking PNs.
• [10] Selumetinib has been approved by the FDA for use in patients with inoperable plexiform neurofibromas.
• [11] The approval of selumetinib helps not only a subset of NF1 patients but also opens the door to increased treatment options.