# Long-Term Disease-Free Survival Without Radiotherapy in a Pediatric Patient With Neurofibromatosis Type 1-Associated Medulloblastoma: A Case Report

## TL;DR

A child with a rare brain tumor and a genetic condition avoided radiation therapy and remains cancer-free over a decade later.

## Contribution

This case report demonstrates successful long-term remission using non-radiation treatment in a pediatric NF1-associated medulloblastoma patient.

## Key findings

- A two-year-old with NF1-associated medulloblastoma achieved complete remission after surgery, chemotherapy, and stem cell transplantation without radiotherapy.
- The patient remained disease-free for over 10 years without recurrence or late complications.
- The case supports radiation-free treatment strategies for NF1 patients to reduce secondary malignancy risks.

## Abstract

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.