Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1: a pathological and molecular explanation. Case report.

Abstract

Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified. The majority of tumors occurring in patients with NF1 are benign neurofibromas, sarcomatous transformation is uncommon and most often occurs within the larger plexiform neurofibromas. Such malignant transformation in a known neurofibroma is often heralded by either radiological evidence of growth or a progression in clinical symptoms (pain and neurological deficit). This progression in symptoms is usually gradual in onset, typically occurring over a period of months. In this report the authors document a neurogenic sarcoma presenting with rapid clinical and radiological growth. The pathological basis of this acute presentation was increased cellular proliferation, with invasion of blood vessels resulting in tumor infarction. The molecular basis of neurofibroma development in NF1 is loss of expression of the NF1 gene and its gene product, neurofibromin, resulting in elevated levels of Ras-guanosine triphosphate. Subsequent molecular events result in sarcomatous transformation.