Dr. Patrick Cimino leads launch of new DNA methylation test for pediatric brain tumors - Children's National

Children's National now offers an in-house DNA methylation profiling test that could give children with central nervous system (CNS) tumors a clearer diagnosis. Patrick Cimino, MD, PhD, the hospital's inaugural Lucy Balian Rorke-Adams, MD, Professor of Molecular Neuropathology, led the effort to bring this advanced testing capability to patients, pathologists and care teams at Children's National.

What this means

Targeted epigenetic profiling looks for a defined set of DNA signatures within a tumor. Methylation profiling takes a different approach, instead, analyzing chemical patterns that regulate gene activity across the genome. Together, those patterns create a molecular fingerprint to help distinguish tumors that look alike under a microscope.

That distinction can be especially helpful when tumors share overlapping histologic or genetic features and are difficult to diagnose. By pinpointing a tumor's specific methylation class, the test can give clinicians greater confidence in the diagnosis and better support a precision medicine approach.

For Dr. Cimino, bringing the test to Children's National marks an important step toward more precise, individualized care for children with brain tumors. "This test really helps you hone in on the actual diagnostic class the tumor belongs to, helping to move the needle for precision medicine," he said.

The patient benefit

Brain tumors in children and adolescents can be difficult to diagnose because they are rare and biologically complex. A more precise classification can give neuro-oncologists, radiation oncologists and surgeons a clearer picture of the disease as they shape a treatment plan for each child.

"It transforms pediatric brain tumor diagnostics into something that is more accurate, allowing clinicians to have a better idea of what they're treating," Dr. Cimino said.

Why we're excited

Because the assay is performed at Children's National, samples no longer need to be sent to an outside institution - a step that can add time to the diagnostic process. "Having it in-house helps accelerate the time from tissue collection to diagnosis," Dr. Cimino said.

What's next

The test will also open new doors for research. Each sample generates about one million data points across the genome, but only a portion are needed to classify the tumor. The remaining data could help researchers explore biomarkers, improve risk stratification and identify tumor subtypes that have not yet been recognized. Children's National also plans to accept referrals and samples from outside institutions, broadening access to advanced molecular diagnostics and creating more opportunities for collaboration.

A strategic philanthropic investment from an anonymous family to advance pediatric brain tumor research and care through the Brain Tumor Institute helped make the test's validation and implementation possible. The effort strengthens the institute's diagnostic and research capabilities and brings promising precision medicine tools closer to the children and families who may benefit.

For children with brain tumors, the goal is simple: a clearer diagnosis sooner and better information to guide the care that follows.