Status:
RECRUITING
Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)
Lead Sponsor:
National Cancer Institute (NCI)
Conditions:
Neurofibromatosis 1
Nerve Sheath Neoplasms
Eligibility:
All Genders
3-120 years
Brief Summary
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, ...
Detailed Description
Background * Patients with NF1 are at risk for the development of both benign and malignant peripheral nerve sheath tumors (MPNST). Some factors that increase risk for malignant tumors are known, suc...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- High-Risk and Low-Risk NF1 Cohorts
- Age \>= 3 years old
- Participants with clinical or genetic diagnosis of NF1.
- Participants with a diagnosis of mosaic or segmental NF1 are also eligible.
- Individuals may have (High-Risk Cohort) or not have (Low-Risk Cohort) at least one of the following characteristics:
- Microdeletion or 844-848 missense variants or other variants associated with increased risk of malignant peripheral nervous sheath tumor (MPNST)
- Family history of MPNST / atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) / atypical neurofibromas (ANF)
- Personal history of MPNST/ANNUBP/ANF or neurofibroma with CDKN2A loss
- Prior radiation therapy at any site
- Large plexiform neurofibroma (PN) burden (\>= 350 mL)
- Presence \>= 1 DNL at baseline
- The ability of the individual, parent/guardian or Legally Authorized Representative (LAR) to understand and the willingness to sign a written consent document for participation.
- EXCLUSION CRITERIA:
- High-Risk and Low-Risk NF1 Cohorts
- \- Inability or unwillingness to undergo MRI imaging
- INCLUSION CRITERIA:
- Parent Cohort
- Parent or guardian of pediatric individuals (8-17 years old) in High-Risk or Low-Risk Cohorts.
- The ability of the parent/guardian or LAR to understand and the willingness to sign a written consent document for parent/guardian participation in this study.
- EXCLUSION CRITERIA:
- Parent Cohort
- \- None.
Exclusion
Key Trial Info
Start Date :
October 9 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2035
Estimated Enrollment :
225 Patients enrolled
Trial Details
Trial ID
NCT06222203
Start Date
October 9 2024
End Date
December 31 2035
Last Update
September 26 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892