Tumor maligno de bainha de nervo periférico em neurofibromatose tipo 1: uma revisão narrativa

Abstract

Malignant Peripheral Nerve Sheath Tumors (MPNSTs)are high-grade neoplasms typically composed of malignant spindle cells, arising in association with nerves, pre-existing Schwann cell neoplasms, such as plexiform neurofibromas (PNFs), or displaying a variable Schwann cell phenotype. These aggressive tumors are known for their propensity to invade surrounding soft tissues and their potential for hematogenous metastatic dissemination. Approximately 25% to 50% of MPNSTs occur in patients with neurofibromatosis type 1 (NF1). MPNSTs may develop in such patients after radiation exposure but can also arise sporadically.This research aims to address the following questions: (i) What is the correlationbetween Neurofibromatosis Type 1 and the development of Malignant Peripheral Nerve Sheath Tumors? (ii) What are the main clinical manifestations of MPNSTs? and (iii) What are the key diagnostic tools and therapeutic approaches for the diagnosis and treatment of these tumors?To carry out this study, ten scientific articles, published between 2000 and 2024,were selected from the "PubMed" and "Biblioteca Virtual em Saúde" databases. The research indicated that the risk of an NF1 patient developing an MPNST is 10% to 13%, primarily arising from pre-existing plexiform neurofibromas, with malignant degeneration occurring in approximately 5% of cases. These tumors are often characterized by rapidly progressing, painful masses, which may be associated with neurological symptoms such as paresthesia and muscle weakness.Magnetic resonance imaging (MRI) was identified as the most suitable diagnostic tool for MPNSTs. Surgical resection of the tumor is the primary therapeutic approach, which may be complemented by postoperative radiotherapy and, in specific cases, chemotherapy. For patients with unresectable or metastatic MPNSTs, anthracycline-based therapy remains the first-line treatment option.