Rare-22. medulloblastoma in a child with neurofibromatosis-1: case report and review

We report a case of Medulloblastoma in a genetically proven case of NF-1.Our patient was diagnosed to have NF-1 in infancy based on clinical / radiological features (Café-au-lait macules, axillary freckling, cutaneous / plexiform neurofibromas and sphenoid wing dysplasia).In the past 2 years prior to presentation she started having intermittent episodes of dizziness and ataxia which gradually worsened and was associated with headache and vomiting. MRI of the brain revealed a midline posterior fossa mass originating from the floor of the fourth ventricle. She underwent a complete surgical resection of the mass and pathology was suggestive of Medulloblastoma. Immunohisto-chemistry for the mismatch repair defect genes (MLH1, MSH2, MSH6 and PMS2) stained positive in both the tumor and adjacent normal brain tissue. Genetic testing revealed mutation in the NF-1 gene. She was treated as per COG ACNS0331 protocol and is currently in remission at 6 months follow up after completion of chemotherapy. A review of the literature identified three case reports of Medulloblastoma in NF-1 patients.
Source: Neuro-Oncology - Category: Cancer & Oncology Authors: Tags: RARE TUMORS Source Type: research