Our Summary

Neurofibromatosis type 1 (NF1) is a genetic disease that is passed down through families. It is caused by a change in a specific gene that ends up reducing the activity of a protein called neurofibromin. This leads to a number of issues, mainly the development of tumors on nerves, which can cause pain, difficulties in functioning, bone deformities, and changes in appearance. These tumors can also press on important organs and can even become cancerous.

One of the major types of tumors seen in NF1 is called plexiform neurofibromas (PN). Treating these tumors is not easy. Surgery is the main method of treatment, but it’s often hard to remove the whole tumor. Over the past few years, using chemotherapy (drugs that kill cancer cells) to treat PN has been a major area of interest. This paper reviews the recent advances in our understanding of how PN develops, how it is diagnosed, and how it can be treated.

FAQs

  1. What is Neurofibromatosis type 1 (NF1) and how does it manifest in patients?
  2. What are the current treatment options for plexiform neurofibromas (PN), a main manifestation of NF1?
  3. Why is complete resection of plexiform neurofibromas often difficult and what alternative treatment methods are being researched?

Doctor’s Tip

One helpful tip a doctor might tell a patient about tumor resection is to follow post-operative care instructions carefully. This may include keeping the surgical site clean and dry, taking prescribed medications as directed, attending follow-up appointments, and reporting any unusual symptoms or complications to the medical team promptly. Additionally, maintaining a healthy lifestyle with regular exercise and a balanced diet can help support the body’s healing process after tumor resection.

Suitable For

Patients with plexiform neurofibromas (PN) are typically recommended tumor resection. PN is a main manifestation of neurofibromatosis type 1 (NF1), a genetic disease characterized by neurocutaneous lesions. Patients with PN often experience pain, dysfunction, skeletal deformities, changes in appearance, and other symptoms. In severe cases, compression of the airways and vital organs occurs, and the PN is at risk of malignancy progression. Surgery is the primary treatment for PN, but complete resection is often difficult. In recent years, chemotherapy for PN has become a hot topic in research and treatment.

Timeline

Before tumor resection, a patient with plexiform neurofibromas may experience pain, dysfunction, skeletal deformities, changes in appearance, and other symptoms. In severe cases, there may be compression of the airways and vital organs, as well as a risk of malignancy progression. Surgery is often the primary treatment option, but complete resection can be difficult.

After tumor resection, the patient may experience relief from symptoms such as pain and dysfunction. However, there may be a need for follow-up care to monitor for any recurrence or complications. In some cases, additional treatments such as chemotherapy may be recommended to prevent tumor regrowth or progression. Overall, the goal of treatment is to improve the patient’s quality of life and reduce the risk of complications associated with plexiform neurofibromas.

What to Ask Your Doctor

  1. What are the risks and benefits of tumor resection for my specific case?
  2. What is the success rate of tumor resection for plexiform neurofibromas?
  3. What are the potential complications or side effects of tumor resection surgery?
  4. Are there any alternative treatments or therapies available for plexiform neurofibromas?
  5. How long is the recovery process after tumor resection surgery?
  6. Will I need any additional treatments or follow-up care after tumor resection surgery?
  7. What is the long-term outlook for patients who undergo tumor resection for plexiform neurofibromas?
  8. Are there any lifestyle changes or precautions I should take after tumor resection surgery?
  9. How often should I follow up with my doctor after tumor resection surgery?
  10. Are there any support groups or resources available for patients with plexiform neurofibromas undergoing tumor resection surgery?

Reference

Authors: Wang S, Li Y, Zhang J, Ni X. Journal: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Jun;36(6):477-482. doi: 10.13201/j.issn.2096-7993.2022.06.015. PMID: 35822370