Neurofibromatosis Type 1 Tumor Early Detection (NF1-TED) Study

Author: Dana Farber-Boston Children's Hospital

Published On: 08/27/2024

Dana Farber-Boston Children's Hospital researchers are conducting a Neurofibromatosis Type 1 Tumor Early Detection (NF1-TED) Study. This team is supported by the NF Research Initiative (NFRI) at Boston Children’s Hospital and works with their study principal investigator, Dr. David Miller, Director of the NFRI at Boston Children’s Hospital. 

This study aims to bank samples that can be used to determine whether a blood test can detect malignant peripheral nerve sheath tumors (MPNSTs) in people with NF1 at an early stage than standard clinical care. These banked samples will be shared with others in the NF research community who are developing MPNST liquid biopsy assays. Early detection of MPNSTs is essential to providing effective treatment for this rare cancer type which is the leading cause of early mortality for people living with NF1. 

Researchers are attempting to enroll 1,000 participants who are adults aged 18 or older, diagnosed with Neurofibromatosis Type 1 (NF1), and have a history of plexiform neurofibroma (PN). At this moment, due to various considerations, the study is only enrolling and beginning sample collection for participants who would fall under the “high-risk” recruitment category for development of an MPNST. The “high-risk” criteria are listed below: 

• Group A: “High risk” participants will meet at least one of the following criteria: 
  • NF1-SUZ12 microdeletion confirmed by genetic testing (risk of MPNST approximately doubles that of typical person with NF1) based on available genomic data 
  • PN with one or more concerning features: (a) SUVmax >3.5, (b) ADC <1, (c) increased tumor pain, (d) growth >20% in one year 
  • High PN burden (>350 cc estimated based on whole body MRI, or wbMRI) 
  • Distinct nodular lesion(s): well-demarcated, encapsulated-appearing lesion ≥5 cm in diameter 
  • Atypical neurofibromas and atypical neurofibromatous neoplasms of uncertain biologic potential AN/ANNUBP) 
  • Prior diagnosis of ANNUBP or MPNST that has been resected (at risk for recurrence) 
     
• Group B: “Standard risk” participants will meet all of the following criteria: 
  • Documented diagnosis of NF1 based on clinical criteria and/or genetic testing 
  • Do not meet the “High risk” criteria 
  • History of plexiform neurofibroma either confirmed or uncertain (if wbMRI imaging has documented no plexiform neurofibroma, then participant is ineligible) 
  • No history of MPNST 
     
• Group C: Participants with MPNST at baseline will meet the following criteria: 
  • Enrollment at the time of an MPNST diagnosis, but prior to resection 

To learn more about the study and how to participate, view the flyer here: https://nfnetwork.org/data/uploads/news-pics/2024/august/nf1-ted-pamphlet-jan24-revised-1.31.jpg

Anyone considering participating in a clinical trial should discuss the matter with his or her physician. The NF Network does not endorse or recommend any particular studies. Learn more about NF clinical trials here.