Early detection of malignant nerve tumors in NF1 using blood markers and advanced MRI
Use of Noninvasive Biomarkers and Advanced MRI for early detection of NF1-associated MPNSTs
This project uses a blood test that looks for tumor DNA together with advanced MRI to find dangerous nerve tumors earlier in people with neurofibromatosis type 1 (NF1).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Tx Md Anderson Can Ctr NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11330300 on NIH RePORTER |
What this research studies
For people with NF1, researchers will combine a blood-based cell-free DNA (cfDNA) panel (including DNA methylation markers, tumor fraction, and aneuploidy profiles) with advanced MRI scans to distinguish malignant peripheral nerve sheath tumors (MPNSTs) from benign plexiform neurofibromas. The team will compare the cfDNA signals with imaging results and clinical data to develop a diagnostic tool that is less invasive than painful biopsies. The approach is intended both for earlier diagnosis and for monitoring responses after treatment. If validated, the combined blood-and-imaging approach could be used in routine follow-up care for NF1 patients with suspicious lesions.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with neurofibromatosis type 1 who have plexiform neurofibromas or new/suspicious nerve lesions that might be changing.
Not a fit: People without NF1 or those whose tumors do not shed detectable tumor DNA into the blood may not benefit from this approach.
Why it matters
Potential benefit: If successful, this could enable earlier, less invasive detection of MPNSTs and better monitoring of treatment response, potentially improving survival and reducing painful biopsies.
How similar studies have performed: Blood-based cfDNA and methylation tests have shown promise in other cancers and early pilot data suggest this method could detect MPNSTs, but applying it routinely in NF1 is still novel.
Where this research is happening
Houston, United States
- University of Tx Md Anderson Can Ctr — Houston, United States (Active)
Researchers
- Principal investigator: Torres, Keila Enitt — University of Tx Md Anderson Can Ctr
- Study coordinator: Torres, Keila Enitt
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.