Abstract Details

Title Multi-parametric Biomarker Development to Predict Malignant Conversion in Patients with Neurofibromatosis type 1: Research in Progress

Topic Neuro-oncology

Presentation(s) P1 - Poster Session 1 (9:00 AM-5:00 PM)

Poster/Presentation
Number 429

Objective To prospectively evaluate the prevalence, natural history, and multi-parametric imaging features of DNLs in people with NF1.

Background NF1 is characterized by a predisposition to develop benign and malignant tumors. Plexiform neurofibromas (pNFs) are benign tumors of the peripheral nerves that often cause neurologic morbidity in people with NF1 and can degenerate into malignant peripheral nerve sheath tumors (MPNST), the leading cause of death in NF1. Atypical neurofibromas (aNFs) and "atypical neurofibromatous neoplasms of uncertain biologic potential (ANNUBP)" are pre-malignant tumors and targets for early intervention to prevent MPNST. Natural history studies and clinical trials using MRI have identified distinct nodular lesions (DNLs) within pNFs as potential radiographic markers of aNF/ANNUBP.

Design/Methods

Participants (n=80) are being enrolled at the Johns Hopkins Comprehensive Neurofibromatosis Center. Inclusion criteria include diagnosis of NF1, and high-risk for MPNST defined as: NF1 microdeletion, personal or family history of ANNUBP/aNFs or MPNST, large pNF burden, or prior radiation treatment. Participants will prospectively undergo yearly whole-body MRI using parallel imaging and total imaging matrix per standard protocol (isotropic volumetric T2 short tau inversion recovery, diffusion weighted imaging, and apparent diffusion coefficient (ADC) mapping) at 3.0 Tesla. Participants will be followed annually for 5 years. Localized MRI and F18-FDG PET/CT will be performed on DNLs for further characterization. Biopsy will be performed for DNLs with clinical suspicion of active conversion.

Results We hypothesize that people with NF1 and aNF/ANNUBP represent a subset of individuals at high risk of developing a malignancy. We further hypothesize that DNLs are imaging correlates of aNF/ANNUBP that can be characterized with advanced quantitative imaging techniques such as ADC values on MR and standard uptake values on F18-FDG PET/CT.

Conclusions Development of imaging biomarkers that identify tumors at risk of malignant conversion would enable early diagnosis and prevention of malignancy.

Authors/Disclosures
Carlos G. Romo, MD (Johns Hopkins Hospital) PRESENTER	Dr. Romo has nothing to disclose.
Jaishri Blakeley, MD, FAAN (Johns Hopkins University School of Medicine)	Dr. Blakeley has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Springworks Therapeutics.
	No disclosure on file
Shannon Langmead, CRNP, CNRN (Johns Hopkins University)	Ms. Langmead has received personal compensation in the range of $500-$4,999 for serving as a Langmead with AstraZeneca.
	No disclosure on file
	No disclosure on file

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