Ganglioglioma with MAP2K1 Mutation and CDKN2A/B Homozygous Deletion: A Case Report.

Aims/Background Gangliogliomas are grade 1 glioneuronal tumors occurring predominantly in the temporal lobe, as per the World Health Organization (WHO) classification. Gangliogliomas often harbor BRAF (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. Case Presentation We reported a primary ganglioglioma harboring MAP2K1 (mitogen-activated protein kinase kinase 1) mutation and CDKN2A/B (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. Conclusion To our knowledge, this is the first reported case of ganglioglioma with anaplastic features harboring MAP2K1 mutation and homozygous deletion of CDKN2A/B. These findings may shed light on the genetic features of ganglioglioma and offers insights into potential therapeutic approaches for this rare neoplasm.