Diagnoses Driven by Genetic Science
This genetic knowledge is transforming the way brain tumors are classified and treated. Traditionally, pathologists evaluate tumors using light microscopy, which is essentially examining tumor samples under the microscope and classifying them based on how they look. Now, with NGS and other advanced technology, neuropathology is being driven by genetic science.
“When we identify a tumor as a glioblastoma, for example, we don’t stop there. We classify it as an IDH wild-type glioblastoma or an IDH mutant glioblastoma,” Dr. Bouffard notes. “Though they are the same type of tumor when viewed through a microscope, they are genetically very different, carry different prognoses and lend themselves to different treatments and clinical trials. This is precisely why molecular diagnostics is so critical.”
Targeted Brain Tumor Treatments
Television and movies lead us to believe that any type of mutation is inherently bad. However, according to neuro-oncologist Nicholas Metrus, MD, when it comes to brain tumors, it is these mutations that open up a number of possibilities for meaningful treatments.
“A tumor’s mutations, or lack thereof, tell us more information about how they behave and which medications they may or may not respond to,” he says. “An intimate understanding of the details can make all the difference. If molecular testing reveals a mutation in a tumor and we have a known medication that targets that mutation, we can create an even more personalized and effective treatment plan.”