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Study Results: Liquid Biopsy Blood Test Shows Promise for Detecting Genetic Changes in Pediatric Brain Tumors

01/07/19

Although medical advances in the past 40 years have improved survival rates for many types of childhood cancer, diffuse midline glioma (formerly referred to as DIPG) is not one of them. This highly aggressive brain tumor defies treatment and currently has a zero-percent survival rate.

In a new multi-institution study published in Clinical Cancer Research, scientists found that liquid biopsy blood tests may reveal whether a child with a diffuse midline glioma brain tumor has a specific mutation associated with the disease. While already developed for adults with cancer, this study was among the first to evaluate the approach of liquid biopsies in children with cancer.

By using this minimally invasive test, it could be possible to: identify and follow molecular changes in children with this type of brain tumor, identify signs of a recurrence earlier than possible with current approaches, help patients enroll in appropriate clinical trials, and better understand disease response to precision therapies such as immunotherapy.

The liquid biopsy is currently undergoing further investigation by co-senior author Javad Nazarian, PhD, of Children's National Health System and George Washington University School of Medicine and Health Sciences, and his colleagues to improve the accuracy of the test and potentially add additional genetic mutations involved in the disease.

"Now that we know it's possible to detect a genetic mutation associated with brain tumors in a noninvasive way, we think this approach could change how we follow patients in the clinic in the future," said co-senior author Sabine Mueller, MD, PhD, of the University of California, San Francisco Benioff Children's Hospitals.

Dr. Mueller continues that this new ability is crucial "for understanding the disease and for developing much-needed new treatments."

This groundbreaking research was supported in part by the Pediatric Brain Tumor Foundation’s opportunity grant to the Pacific Pediatric Neuro-Oncology Consortium (PNOC) Operations Center. PNOC is a network of children’s hospitals formed to provide children with brain tumors access to clinical trials of innovative treatments. The mission of PNOC is to pursue clinical strategies that capitalize on each patient’s tumor-specific molecular and genetic make-up.

Click here to read more about the study and the profound promise it holds for children with brain tumors.