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.
Age >= 3 years old
Participants with clinical or genetic diagnosis of NF1.
Participants with a diagnosis of mosaic or segmental NF1 are also eligible.
Microdeletion or 844-848 missense variants or other variants associated with increased risk of malignant peripheral nervous sheath tumor (MPNST)
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.
Participants aged \>= 3 years old with a clinical or genetic diagnosis of NF1; parents or guardians of participants ages 8-17 years old.
Cohort
Prospective
Not listed
Assess feasibility of the study algorithm in identifying atypical neurofibromas (ANs), atypical neurofibromatous neoplasms of unknown biologic potential (ANNUBPs), CDKN2A/B mutated lesions, and/or malignant peripheral nervous sheath tumors (MPNS...
Proportion of lesions that undergo surgical intervention (biopsy or resection) that are ANs, ANNUBPs, CDKN2A/B mutated lesions and/or MPNST
Assess whether the proposed surveillance and management approach for participants with NF1 at high risk and low risk of MPNST is feasible
Number of participants complying with recommendations for imaging/surgical interventionsNumber of resections recommended vs successfully completedProportion of subjects from the low-risk cohort that transition to the high- risk algorithm during the study observation periodThe number of subjects who develop high grade MPNST during the observation periodNumber of subjects who develop high grade MPNST outside of a pre-existing DNL or PN during the observation periodData from the Tumor Specific Risk Factor and Participant Specific Risk Factor Checklists
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