The High-Grade Glial Component Of Pediatric Primary Anaplastic Ganglioglioma Characterized Astroblastoma-Like Pseudorosettes With BRAFV600E Mutation And Deletion Of CDKN2A/B, PTEN, And BMPR1A: A Case Report
Abstract Background: Ganglioglioma (GG) is a low-grade mixed neuronal-glial tumor which is the most common type of long-term epilepsy-associated tumors (LEATs). However, primary anaplastic ganglioglioma (AGG) which composes of malignant changes is rare. Here, we report a case of pediatric primary AGG which is consisted of low-grade/begnin GG and high-grade glioma that was characterized by astroblastoma-like pseudorosettes. Case presentation: We describe a case of 4-year-old female who presented with medically refractory seizure for 14 months by a temporal mass. The patient underwent a gross total mass resection at the first surgery, and was only treated with antiepileptic therapy and followed by observation. After nine months, tumor recurrence was found. Followed by second operation, the patient was treated with chemotherapy (oral temozolomide and antiepileptic drugs) and local radiotherapy. At 58-month follow-up after the second operation, no epileptic seizures and tumor recurrence were found again. In the first sample, the tumor contained two different components. The major component presented the low-grade GG’s features of neoplastic glial cells and dysplastic ganglion cells. The minor component was a heterogeneous high-grade glioma characterized astroblastic-like pseudorosettes clusters with increased mitotic figure (about 4-6 per 10 high-power fields). CD34 staining was negative. BRAFV600E was positive in both components. In the recurrent sample, the heterogeneous high-grade glioma became the major component. The fuorescence in situ hybridization (FISH) of MN1 break-apart probe and MYB–QKI fusions probe were negative. BRAFV600E mutation, and deletion of CDKN2A/B, PTEN and BMPR1A were detected by targeted DNA sequencing. Conclusion: This case extends the histomorphologic spectrum and enriched genetic features of primary AGG in childhood. The high-grade glioma charactered astroblastoma-like pseudorosettes may be an important cause of tumor recurrence in a short period of time. Tumor gross total surgical resection and adjuvant chemoradiotherapy were important to achive an event-free survival.