NF1 Patients Still Need Proper Treatments

By Danielle Bradshaw from In The Cloud Copy 

Neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (pNFs) is a condition that many children struggle to manage due to a lack of proper treatment available. Because the need of medical treatment for these children is large, Jinghua He, Ph.D., along with other researchers, scoured the Children’s Tumor Foundation (CTF) registry to figure out how many of these children needing treatment there were, where and how their neurofibromatosis manifested, and what kinds of treatments were used.

What is Neurofibromatosis Type 1 (NF1)?

Neurofibromatosis type 1 is a genetic disorder that manifests in skin abnormalities and cancerous and non-cancerous nervous system tumors inside the body. Around 100,000 people suffer from (NF1) within the United States alone. NF1 usually manifests around birth or early childhood through skinfold freckling and café au lait spots (flat light brown birthmarks).

The types of tumors that a person can have from NF1 vary, but one of the most common types is plexiform neurofibromas which are (usually) benign tumors. Plexiform neurofibromas grow on the nerve sheath anywhere inside of the body and may occur all throughout the patient’s life. They can result in disfigurement and disability and can become malignant.

What is the Children’s Tumor Foundation?

The Children’s Tumor Foundation (CTF) is an online patient-centered registry with data from as far back as 2012. The research team used data from 2012 to 2018 which means that all of the patients that they collected information on were all less than 20 years of age. Other criteria that the team used was:

  • The patients had done one or more surveys for the registry
  • Were diagnosed with NF1
  • Had at least one documented pNF

What Were the Study Results?

The study was completed by using the patent’s first survey as well as the traits of their NF1 and the treatments used. The resultant findings were then arranged by the region where each patient lived (inside or outside of the US). The sample pool was made up of a total of 943 patients; 750 of those people were actually from the US and the remaining 193 were from other countries. The collected results of the study are as follows in the US group of participants:

  • 87.6% of them were diagnosed with NF1 when they were less than 5 years old and 79.3% from the other countries were collectively shown to be diagnosed at around the same age.
  • In the US group, over 52.2% were male while over 47.7% of them were male in the other countries
  • Approximately 50.1% of US participants were found to have multiple pNFs and 50.8% of the patients from outside of the United States had more than one pNF.

As far as the location and treatment of the pNFs go, for US patients they regularly appeared in the head (28.8%), neck (24.8%), the back aside from the spinal area (20.4%), and chest (19.2%). Of the US patients, 57.6% said that they hadn’t gotten any treatment for their pNFs. For the ones in the United States group that did get treatments, less than 30% reported having surgery, while chemo or drug therapy was used for just over 10% of the group.

The group of patients outside of the US were found to have pNFs most often located in the head (35.2%), neck (25.9%), other areas of the back aside from the spine (over 24.9%), and the chest (over 22.8%). Over 55.4% of them didn’t have any treatments done at all. Around 28% of them were able to have surgery done and 9.3% got chemo and drug treatments.

There was also information collected on the number of patents who developed peripheral nerve sheath tumors (MPNSTs) and optic gliomas (OGs) MPNST was found in 2.1% of the US group and 2.6 of the non-US participants. Over 60% of patients (overall) got surgery for this while 52.4% had radiation treatments done.

Regarding the development of OGs, over 33% of the US patients and 29% of the ex-US group reported having them. Over 60% of patients overall did not receive treatment; over 60% in the US portion and over 55% in the non-US group.

It was noted by the investigators themselves, however, that because the surveys used are essentially restricted to English-speaking people with internet access, the study has some limitations.

Learn more about this story here.

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