Using a molecular testing technology for faster and comprehensive diagnosis of brain tumors

Ann & Robert H. Lurie Children’s Hospital of Chicago was awarded $3.7 million through the National Cancer Institute Cancer Moonshot Scholars program to advance precision diagnosis of brain tumors in children. The study will be the first to apply a molecular testing technology called optical genome mapping (OGM) to achieve faster and more comprehensive diagnosis of brain tumors, so treatment can be tailored to the specific genetic changes that drive tumor growth. If successful, Lurie Children’s aims to implement this innovative clinical test by the end of the five-year study.

We will use optical genome mapping for molecular diagnosis of brain tumors, which is a new application of this technology specifically designed to detect structural variants, meaning large changes within the single long strands of DNA that affect function. Currently, the genomic testing performed on brain tumors focuses on small changes within individual genes. Adding the new test will inform us about larger changes to the whole gene and the genes that surround it. This will allow us to receive more robust test results so that we can initiate treatment earlier and do so with greater precision.”

Miriam Bornhorst, MD, Principal Investigator, neuro-oncologist at Lurie Children’s and Associate Professor of Pediatrics at Northwestern University Feinberg School of Medicine

OGM can also capture information on brain tumors that could not be characterized by sequencing. According to Dr. Bornhorst’s preliminary data, around 30 percent of patients with negative clinical genetic testing had a potentially clinically important structural variant identified on OGM. This study will include analysis of at least 1,500 brain tumor samples over the course of five years. Approximately 200 samples will be analyzed in “real time,” to determine how well this method works as a clinical test, while the other samples will be analyzed to discover new structural variant patterns in pediatric brain tumors.

“We hope to discover novel structural variants and characterize them based on tumor type, which could help us understand why some brain tumors are more difficult to treat, or why some of these tumors don’t respond to treatment,” said Dr. Bornhorst. “Our work also might identify new targets for treatment. This is an exciting path forward that could transform care of pediatric brain tumors and hopefully lead to improved outcomes.”

Dr. Bornhorst is the Max Lacewell Endowed Brain Tumor Research Scholar at Lurie Children’s.