Abstract
Abstract BACKGROUND Molecular characterization of brain tumors (BT) is increasingly becoming essential for diagnosing and managing central nervous system (CNS) tumors. Infant BT is a particular category of pediatric CNS tumors that poses a challenge to the neuro-oncologist. METHODS Here, we present two distinctive cases where molecular characterization significantly influenced diagnosis, management, and outcome. RESULTS The first case is a 2-year-old boy presented with generalized seizures. MRI of the brain showed multiple dural-based tumors. Biopsy was consistent with ALK-positive histiocytosis (KIF5B-ALK fusion). Additional lesions were detected in the right kidney and left femoral head. Despite three months of LCH-based therapy, the tumor progressed. Chemotherapy was halted, and treatment with alectinib was initiated. Follow-up MRIs after 3 and 6 months showed marked regression and a complete resolution of the lesions, respectively. The second case is a 12-month-old boy who exhibited developmental regression and increased head circumference over the past three months. MRI revealed a large complex right ventricle mass measuring 8.6x7.2x8 cm. Subtotal resection was complicated by severe intracranial bleeding, requiring prolonged intensive care stay. The initial pathological diagnosis was anaplastic ependymoma. He received two cycles of neoadjuvant chemotherapy followed by a second look surgery, which failed to achieve a gross total resection. Molecular testing by this time identified an ALK-CCDC85A fusion, altering the diagnosis to infant-type hemispheric glioma. He was started on alectinib. MRI after 3 and 6 months showed a favorable response with an overall improvement in his cognitive function. Both patients tolerated alectinib well, remaining on therapy for 6 and 12 months, respectively. No toxicities were reported. CONCLUSION These cases illustrate the transformative role of molecular characterization in managing infants with CNS tumors, highlighting its potential as a game-changer in pediatric neuro-oncology.
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