Long-Term Disease-Free Survival Without Radiotherapy in a Pediatric Patient With Neurofibromatosis Type 1-Associated...

Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder associated with an increased risk of central nervous system tumors, particularly low-grade gliomas. However, the development of medulloblastoma in NF1 patients is extremely rare. Given the heightened risk of secondary malignancies following radiotherapy in this population, treatment strategies that minimize radiation exposure are important. We report a case of a two-year-old boy with a family history of NF1 who presented with headache and ataxia. Brain MRI revealed a 45-mm mass in the cerebellar vermis. Gross total resection was performed, and histopathology confirmed desmoplastic/nodular medulloblastoma. Postoperatively, the patient received multi-agent chemotherapy and intrathecal methotrexate without adjuvant radiotherapy. Consolidation therapy included high-dose chemotherapy with etoposide, carboplatin, and melphalan, followed by autologous peripheral blood stem cell transplantation. The treatment was completed successfully despite some toxicities. More than 10 years after treatment, the patient remains in complete remission without evidence of recurrence or late complications. This case highlights the potential of radiation-free, individualized treatment strategies for patients with NF1 to minimize the risk of secondary malignancies and achieve favorable long-term outcomes.