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Oncogenic GOPC-ROS1 Fusion Identified in a Congenital Glioblastoma Case
Susan L Whiteway1,2, Aaron M Betts3,2, Erika R O'Neil1
1Departments of Pediatrics.
Insights
Congenital glioblastoma, a rare infant brain tumor, can harbor a GOPC-ROS1 fusion. This molecular finding in a pediatric case offers potential therapeutic targets for infant brain tumors.
Area of Science:
- Neuro-oncology
- Pediatric oncology
- Molecular diagnostics
Background:
- Congenital glioblastoma (GBM) is a rare brain tumor diagnosed at birth.
- While sharing histological similarities with adult and pediatric GBM, congenital GBM may possess a unique molecular signature.
- Understanding the molecular underpinnings of congenital GBM is crucial for developing targeted therapies.
Abstract:
Congenital glioblastoma (GBM) is a rare brain tumor of infancy. While histologically they resemble pediatric and adult GBM, growing evidence suggests a distinct molecular profile. We report the case of a 7-day-old infant female with congenital GBM found to harbor a GOPC-ROS1 fusion. She underwent surgical resection, moderate-intensity chemotherapy without radiation, and remains disease-free 4 years from completion of therapy. While the frequency of this mutation is not known, the identification of this oncogenic driver may provide insight into the pathogenesis of GBM in this age group and may serve as a molecular target for select patients.
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