• J. Pediatr. Hematol. Oncol. · Nov 2020

    Case Reports

    Oncogenic GOPC-ROS1 Fusion Identified in a Congenital Glioblastoma Case.

    • Susan L Whiteway, Aaron M Betts, Erika R O'Neil, Adam L Green, Ahmed Gilani, Brent A Orr, and Derek A Mathis.
    • Departments of Pediatrics.
    • J. Pediatr. Hematol. Oncol. 2020 Nov 1; 42 (8): e813-e818.

    AbstractCongenital 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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