Malignant peripheral nerve sheath tumors in pediatric oncology practice: a clinical review

Malignant peripheral nerve sheath tumors (MPNSTs) are highly aggressive neoplasms that may develop sporadically as a result of prior irradiation or in patients with neurofibromatosis type 1 de novo or following a malignant transformation of plexiform neurofibroma. MPNSTs are rare in children, and their pathogenesis still remains unclear. However, molecular genetic tests in adult patients demonstrated a clear association between MPNSTs and pathogenic mutations in the NF1, CDKN2A/CDKN2B, PTEN, EED or SUZ12 genes. Due to the rare occurrence of these tumors, their various clinical manifestations depending on the location as well as characteristic rapid growth, they are often definitively diagnosed already at an advanced stage of the disease, which greatly increases the probability of an unfavorable outcome. Total tumor resection remains the mainstay of treatment for MPNSTs but due to the above-mentioned factors tumors are considered unresectable in 17–53% of cases. Both systemic anticancer therapy and local radiotherapy demonstrate low effectiveness, yet the inclusion of anthracyclines and ifosfamide in treatment regimens results in better outcomes. The effectiveness of targeted therap