Neurofibromatosis type 1 associated with central nervous system lymphoma

PURPOSE: To report the occurrence of central nervous system (CNS) lymphoma in a patients with neurofibromatosis type 1 (NF1). DESIGN: Interventional case report. METHODS: A 47-year-old male with a parieto-occipital lobe lesion was referred for ocular evaluation. Skin, brain, and vitreous biopsies were performed. RESULTS: The discovery of Lisch nodules of the iris prompted a physical examination that revealed cutaneous stigmata of NF1. Biopsy of the CNS lesion revealed diffuse large B-cell lymphoma. Biopsy of papules on the back and abdomen were compatible with neurofibroma. No malignant cells were found in the vitreous specimen. A clinical diagnosis of NF1 was made. CONCLUSION: This is the first report of CNS lymphoma in a patient with NF1. Additional reports may shed more light on the possible association between the two conditions.