Case Study: Hospital de Amor uncovers a rare pediatric glioma gene fusion with SOPHiA GENETICS

Hospital De Amor uncovers rare gene fusion in 4 years of healthy follow-up with SOPHiA GENETICS

Hospital de Amor, a hospital in Brazil, was faced with the challenge of treating an infant patient diagnosed with an aggressive high-grade glioma, a pediatric brain cancer with a very poor prognosis. To explore alternative treatment options, the hospital's clinicians turned to genomic profiling research powered by the SOPHiA GENETICS SOPHiA DDM™ Platform.

Using next-generation sequencing on the platform, the solution identified a specific kinase receptor fusion in the tumor. This genetic insight provided valuable information that helped support the patient's care journey. As a result, the child remained healthy and free of neurological complications for four years without needing additional surgeries or a different chemotherapy approach, demonstrating the impactful results achieved with SOPHiA GENETICS.

Hospital De Amor