Sarcomatous transformation of Recklinghausen´s disease

Abstract

Neurofibromatosis type I is a common genetic disease. Affected patients are 4 times more likely to develop a tumor. Most tumors are benign (neurofibromas). Although these rarely result in malignant tumors, they represent the leading cause of death in patients, thus making neurofibromatosis type I a severe disease. It mainly develops to melanoma, pheochromocytoma, astrocytoma, optic glioma, Wilms tumor of and leukemia. Sarcomatous transformation is exceptional. Early diagnosis is essential. It arises from isolated nodular or plexiform neurofibromas. During the monitoring of patients with NF1 and with plexiform neurofibromas, clinicians should consider the possibility of its transformation into neurofibrosarcoma. This is also the case for rapid increase in tumor size, its hardening, its extremely painful nature or the occurrence of neurological signs. We report the case of a 42-year-old female patient, with childhood history of Von Recklinghausen disease, presenting with pain, bleeding and an increase in plexiform neurofibroma size in the right lower limb (A, B, C). Clinical examination showed coffee-with-milk colored spots, cutaneous neurofibromas and large size ulcerated and painful mass involving all the right lower limb. Computed tomography (CT) scan of the limb objectified a tumoral process at the level of the posterior region of the lower limb. Biopsy of the mass showed malignant peripheral nerve sheath tumor.