Pulmonary Metastatic Malignant Peripheral Nerve Sheath Tumor in an Adult Patient with Neurofibromatosis Type I-A Case Report

Abstract

Neurofibromatosis type I (NF1) or von Recklinghausen's disease is an autosomal dominant disease with a frequency of 1 in 3000. Malignant peripheral nerve sheath tumors (MPNSTs) are rare spindle cell sarcomas, derived from Schwann cells or pluripotent cells of the neural crest. Some of these tumors occur in association with neurofibromatosis type 1 (NF1). MPNSTs are usually resistant to chemotherapy or radiotherapy, and those associated with NF1 behave in a more aggressive way. We report a rare case of a NF1 patient with respiratory failure caused by metastatic pulmonary MPNST, who was successfully treated by combination chemotherapy.