# Developing Novel Biomarkers of Plexiform Neurofibroma Tumor Burden

> **NIH NIH R61** · LURIE CHILDREN'S HOSPITAL OF CHICAGO · 2021 · $1,843,151

## Abstract

PROJECT SUMMARY/ABSTRACT
Neurofibromatosis type 1 (NF1) is a common inherited human disorder, with a frequency of approximately 1:2500
worldwide. A hallmark of NF1 is development of plexiform neurofibromas (PNFs) in 30 to 50% of NF1 patients.
Currently, there are no biomarkers of tumor burden and whole body magnetic resonance imaging (MRI) is
expensive and limited to few centers. We established an unbiased pipeline to identify candidate biomarker
signals of tumor burden using plasma from neurofibroma-bearing DhhCre;Nf1fl/fl mice using untargeted
metabolomics. Our preliminary data show that glucosylceramide (GC) is the most significantly deregulated
compound in plasma from neurofibroma-bearing DhhCre;Nf1fl/fl mice. We developed a novel targeted mass
spectrometry method to accurately quantify multiple elevated GC and lactosylceramide (LC) species. Further
analysis of these candidate tumor burden biomarker signatures in plasma from NF1 individuals with PNFs and
DhhCre;Nf1fl/fl mice stratified by tumor volume showed a preliminary strong correlation. In this proposal, we will
combine the clinical and research infrastructure of the NF1 comprehensive program with the advance imaging
and mass spectrometry capabilities of Cincinnati Children's Hospital Medical Center. Taking advantage of our
large, well-characterized, Cincinnati Children’s NF1 population and the RASopathies biorepository, we propose
to perform analytical validation studies of candidate GC/LC biomarker signature of tumor burden in plasma from
NF1 patients and neurofibroma-bearing mice with defined numbers of PNF (tumor burden) by whole body MRI.
The potential outcomes of our study are identification of candidate biomarker of tumor burden that contribute to
patient risk stratification, and analytical validation of GC/LC biomarker signature (context of use). Collectively,
this work represents a synergistic approach for discovery and validation of biomarkers of tumor burden in NF1.

## Key facts

- **NIH application ID:** 10534965
- **Project number:** 7R61NS122094-02
- **Recipient organization:** LURIE CHILDREN'S HOSPITAL OF CHICAGO
- **Principal Investigator:** Carlos Enrique Prada
- **Activity code:** R61 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,843,151
- **Award type:** 7
- **Project period:** 2021-12-07 → 2025-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10534965

## Citation

> US National Institutes of Health, RePORTER application 10534965, Developing Novel Biomarkers of Plexiform Neurofibroma Tumor Burden (7R61NS122094-02). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10534965. Licensed CC0.

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