The Children's Tumor Foundation

01/10/2025 | Press release | Distributed by Public on 01/10/2025 08:47

Children’s Tumor Foundation and CureNFwithJack Announce Next Phase of the Groundbreaking Biomarker Project for NF1 Tumor Detection

Collaboration Accelerates the Development of a Non-Invasive Blood Test to Identify and Track
Cancerous Tumors in NF1 Patients

The Children's Tumor Foundation (CTF), in collaboration with CureNFwithJack (CNFWJ), is proud to announce the next phase of an innovative biomarker project aimed at revolutionizing the detection and monitoring of cancerous tumors in patients with neurofibromatosis type 1 (NF1).

A Transformative Blood Test for NF1 Patients: Building on Breakthroughs

This project builds on earlier groundbreaking research funded by CTF, which demonstrated that analyzing cell-free DNA (cfDNA) - tiny fragments of tumor DNA circulating in the bloodstream - can effectively distinguish cancerous tumors, known as malignant peripheral nerve sheath tumors (MPNSTs), from benign or premalignant tumors in NF1 patients. MPNSTs are one of the most serious complications of NF1, affecting approximately 1 in ten NF1 patients over their lifetime. This non-invasive approach offers the potential for earlier, faster, and more precise cancer detection. It could significantly reduce the reliance on invasive biopsies and frequent imaging scans for monitoring tumor changes.

What Has Been Achieved So Far:

In the initial phase, researchers successfully:

  • Demonstrated that cfDNA analysis can differentiate between benign, pre-cancerous, and cancerous tumors in NF1 patients.
  • Validated the approach using patient samples, with results published in leading peer-reviewed journals.
  • Established that dynamic cfDNA patterns could even predict tumor relapse months before traditional imaging.

This work laid the foundation for what comes next: scaling testing, enhancing precision, and preparing this blood test for widespread clinical adoption.

What Happens in This Next Phase:

This next phase focuses on expanding the reach and rigor of cfDNA testing through key initiatives:

  • Targeted Testing for High-Risk NF1 Patients: High-risk NF1 patients will be identified through clinician partnerships at leading NF centers in the U.S., with testing costs covered by the study to support early detection and potentially save lives through earlier interventions.
  • Serial Testing for Better Predictability: Patients will undergo blood testing at multiple intervals to track tumor changes and improve early detection accuracy.
  • Biobank Expansion: Establishing a robust plasma sample repository tied to clinical data, enabling future assay improvements and regulatory validation.
  • Clinical Integration: Preparing the cfDNA blood test for integration into routine clinical care, with a focus on scalability and long-term impact.

The Research Team: Leading Experts in NF1 and Oncology

This phase is led by an esteemed multidisciplinary team, including:

  • Jeffrey Szymanski, MD, PhD (Mayo Clinic)
  • R. Taylor Sundby, MD (National Institutes of Health)
  • Aadel Chaudhuri, MD, PhD (Mayo Clinic)
  • Angela Hirbe, MD, PhD (Washington University)
  • Jack Shern, MD (National Institutes of Health)

Together, these experts combine decades of experience in oncology, genomics, and NF-focused research to ensure the scientific and clinical success of this phase.

What This Means for NF1 Patients and Families:

For NF1 patients, this project holds life-changing potential:

  • Earlier Detection: Identifying cancer before symptoms arise, allowing for proactive intervention.
  • Less Invasive Monitoring: Reducing reliance on surgeries and frequent imaging scans.
  • Better Outcomes: Enabling personalized treatment plans and earlier action when tumors show signs of becoming cancerous.

"This phase represents a bold step forward in how we care for NF1 patients," said Annette Bakker, PhD, Chief Executive Officer of the Children's Tumor Foundation. "With the expertise of our research partners and the support of CureNFwithJack, we're making significant progress toward turning this blood test into a standard tool for NF1 care and making NF more predictable."

"We are incredibly proud to support this critical phase of research," said Elizabeth O'Brien, Co-Founder and Chief Executive Officer of CureNFwithJack. "This work has the potential to save lives, and we are honored to be part of making that future a reality."

Next Steps: A Roadmap for Progress

The success of this phase will lay the foundation for:

  • Future FDA regulatory submissions to enable widespread adoption.
  • Integration of cfDNA testing into standard clinical practice for NF1 patients.
  • Long-term research insights from the biobank, further advancing NF1 care.

Learn More and Support This Work

For more information about this groundbreaking initiative and how to support its continued success, visit:

Further Reading and Resources

Major Biomarker Project to Help Identify Cancer Predisposition in NF1 Patients
 https://www.ctf.org/news/major-biomarker-project-to-help-identify-cancer-predisposition-in-nf1-patients/

CTF-Funded Study Utilizes Promising Blood Test for Predicting Cancer Risk in NF Patients
 https://www.ctf.org/news/ctf-funded-study-utilizes-promising-blood-test-for-predicting-cancer-risk-in-nf-patients/

Early Detection of Malignant and Premalignant Peripheral Nerve Tumors Using cfDNA Fragmentomics
 Published in: Clinical Cancer Research, 2024
 Authors: Sundby RT, Szymanski JJ, Pan A, et al.
 DOI Link: https://doi.org/10.1158/1078-0432.CCR-24-0797

Early Detection of Malignant Peripheral Nerve Sheath Tumors Using cfDNA
 Published in: PLOS Medicine, 2021
 Authors: Szymanski JJ, Sundby RT, Jones PA, et al.
 DOI Link: https://doi.org/10.1371/journal.pmed.1003734