The apply of molecular testing technology for faster and comprehensive diagnosis of brain tumors

Children’s Hospital Ann and Robert H. Lurie in Chicago received $3.7 million from the National Cancer Institute’s Cancer Moonshot Scholars program, which aims to improve the precision diagnosis of pediatric brain tumors. The study will, for the first time, apply a molecular testing technology called optical genome mapping (OGM), which will enable faster and more comprehensive diagnosis of brain tumors, so that treatment can be tailored to the specific genetic changes that cause the tumor to grow. If successful, Lurie Children’s intends to implement this groundbreaking clinical trial by the end of the five-year study.

We will apply optical genome mapping for the molecular diagnosis of brain tumors, a novel application of this technology designed specifically to detect structural variants, which are enormous changes within single long DNA strands that affect function. Currently, genomic studies of brain tumors focus on petite changes in individual genes. Adding a novel test will tell us about larger changes in the entire gene and the genes surrounding it. This will enable us to obtain more stalwart test results so that we can start treatment earlier and carry it out 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 about brain tumors that cannot be characterized by sequencing. According to Dr. Bornhorst’s preliminary data, approximately 30 percent of patients with negative clinical genetic testing results in OGM have had a potentially clinically significant structural variant identified. This study will analyze at least 1,500 brain tumor samples over five years. About 200 samples will be analyzed “in real time” to determine how well the method performs in a clinical test, while the remaining samples will be analyzed to discover novel patterns of structural variants in pediatric brain tumors.

“We hope to discover novel structural variants and characterize them based on tumor type, which may facilitate us understand why some brain tumors are more challenging to treat or why some of these tumors do not respond to treatment,” Dr. Bornhorst said. “Our work may also identify novel treatment targets. This is an electrifying path forward that has the potential to change the way pediatric brain tumors are treated and hopefully lead to better outcomes.”

Dr. Bornhorst is a Max Lacewell Fellow in Brain Tumor Research at Lurie Children’s.