Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)

Launched by NATIONAL CANCER INSTITUTE (NCI) · Jan 23, 2024

Keywords

ClinConnect Summary

This clinical trial is investigating a new way to predict which benign tumors related to Neurofibromatosis type 1 (NF1) might turn cancerous. NF1 is a genetic condition that can lead to noncancerous tumors, but in some cases, these tumors can become malignant, or cancerous. The goal of the study is to better understand which tumors are at a higher risk of becoming cancerous, helping doctors monitor and treat patients more effectively.

Anyone aged 3 years and older with a diagnosis of NF1 can participate, including those with specific characteristics that may indicate a higher risk for cancer. Participants will undergo a thorough check-up that includes medical history reviews, blood tests, imaging scans, and physical exams. Depending on their risk level, participants will return for follow-up visits ranging from every month to every few years over a period of up to 10 years. This study will help improve the care and monitoring of individuals with NF1 by identifying which tumors need closer observation.

Gender

ALL

Eligibility criteria

• * 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.