The Children’s Tumor Foundation announced a groundbreaking three-year biomarker study, which it will fund in its entirety for nearly $2 million, to determine if a DNA-based blood test can offer better understanding and ultimately earlier diagnosis of cancer predisposition in neurofibromatosis type 1 (NF1) patients.
In a publication led by Taylor Sundby, MD, and others, and funded by the Children’s Tumor Foundation, researchers are developing a remarkable blood test capable of predicting the risk of malignant peripheral nerve sheath tumors (MPNSTs) in individuals with NF1. This cutting-edge advancement offers hope for early detection and intervention, potentially transforming the landscape of NF management. MPNSTs are rare but aggressive tumors and pose significant challenges in NF1 patients, often eluding early detection until they reach advanced stages. However, this innovative blood test could revolutionize how healthcare providers monitor patients, enabling proactive measures to mitigate the risk of MPNST development. This research heralds a new era in NF care by providing a simple and non-invasive method for assessing MPNST likelihood, offering patients and healthcare professionals a powerful tool in the fight against this complex condition.
Collaboration across the NF funding spectrum is making this research opportunity possible. The Principal Investigators (PIs) of this project are Angela Hirbe, MD, PhD of Washington University and John Shern, MD of the National Cancer Institute (NCI) at the National Institutes of Health (NIH), in PI-level collaboration with Aadel Chaudhuri MD, PhD at Washington University.
“We believe that the most effective way to bring treatments to NF patients more quickly is through collaboration and information sharing,” said Annette Bakker, PhD, President of the Children’s Tumor Foundation. “Patients are told to ‘watch and wait’ to see if the tumors grow, which is scary and unfair, so we are highly motivated that the biomarker study proposed by Drs. Hirbe, Shern, and Chaudhuri can potentially flip that scenario when it comes to the deadliest MPNST tumors. We also believe that great science should never stop, and we are proud of our partnership with the CDMRP, the NIH, and other NF funders that projects like this will receive the support they deserve. We have all agreed to communicate openly with each other to benefit our common priority – the health of our NF patients.”
Read the pre-print of the study here.
Read more about CTF’s nearly $2 million investment in this study and the researchers involved: Major Biomarker Project to Help Identify Cancer Predisposition in NF1 Patients
