Ganglioglioma with Mutation and Homozygous Deletion: A Case Report.

Gangliogliomas are grade 1 glioneuronal tumors occurring predominantly in the temporal lobe, as per the World Health Organization (WHO) classification. Gangliogliomas often harbor (v-Raf murine sarcoma viral oncogene homolog B1) p.V600E hotspot mutation or other alterations leading to activation of RAS/RAF/MAPK (rat sarcoma virus oncogene/rapidly accelerated fibrosarcoma/mitogen-activated protein kinase) signaling pathway, which is the driver factor of this tumor. This study aims to investigate a case of ganglioglioma patient with distinctive molecular features, and to present the clinical and pathological characteristics as well as the treatment employed for this individual. We reported a primary ganglioglioma harboring (mitogen-activated protein kinase kinase 1) mutation and (cyclin-dependent kinase inhibitor 2A/2B) homozygous deletion in a 4-year-old patient. The patient experienced tumor recurrence 12 months after gross total resection of the tumor. Subsequently, salvage chemotherapy with a combination of temozolomide and irinotecan was administered, resulting in effective control of the tumor. To our knowledge, this is the first reported case of ganglioglioma with anaplastic features harboring mutation and homozygous deletion of . These findings may shed light on the genetic features of ganglioglioma and offers insights into potential therapeutic approaches for this rare neoplasm.