Actively Recruiting
Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)
Led by National Cancer Institute (NCI) · Updated on 2025-09-26
225
Participants Needed
1
Research Sites
585 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Neurofibromatosis type 1 (NF1) is a genetic disease that can cause many symptoms. About half of people with NF1 will develop benign (noncancerous) tumors along nerves in the skin, brain, and other parts of the body. Sometimes, though, these tumors can become cancerous. Researchers do not yet know how to predict which tumors will become cancerous. Objective: To test a new method for predicting which benign NF1 tumors will become cancerous. Eligibility: People aged 3 years and older with a clinical or genetic diagnosis of NF1. Design: * Participants will be screened with a review of their medical history. All participants will have a baseline visit. They will have bood tests and imaging scans. They will have a physical exam. They will answer questions about their family history. Participants aged 8 years and older will take tests of their thinking skills and their emotional health. * Some participants may be asked to undergo more tests. These may include another type of imaging scan and a biopsy: A small sample of tissue may be removed from the tumor. * Participants will be divided into two groups: those believed to be at low risk and those believed to be at high risk of developing cancer. * Participants in the high-risk group will be asked to return for their next visit in 1 month to 3 years. * Participants in the low-risk group will be asked to return for their next visit in 6 months to 5 years. * Participants may also have follow-up visits by phone throughout the study. They will be in the study for 10 years.
CONDITIONS
Official Title
Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 3 years or older
- Clinical or genetic diagnosis of Neurofibromatosis type 1 (NF1)
- Diagnosis of mosaic or segmental NF1 eligible
- High-risk group requires at least one of the following: microdeletion or specific genetic variants linked to MPNST risk, family history of MPNST/ANNUBP/AN, personal history of MPNST/ANNUBP/AN or neurofibroma with CDKN2A loss, prior radiation therapy, large plexiform neurofibroma burden (>= 350 mL), or presence of distinct nodular lesions at baseline
- Low-risk group includes participants without high-risk criteria beyond NF1 diagnosis
- Ability and willingness of participant or legal representative to consent
- Parent or guardian of pediatric participants (8-17 years) may participate with consent
You will not qualify if you...
- Inability or unwillingness to undergo MRI imaging
- No exclusions for parent cohort
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
J
Jennifer E Derise
CONTACT
B
Brigitte C Widemann, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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