Introduction: The most common malignancy affecting adults with the neurofibromatosis type 1 (NF1) cancer predisposition syndrome is the malignant peripheral nerve sheath tumor (MPNST), a highly aggressive sarcoma that typically develops from a pre-existing benign plexiform neurofibroma. These tumors are difficult to treat, with limited therapeutic options and poor patient responses, leading to unacceptably high mortality rates. Despite advances in our understanding of the pathogenesis of these tumors, the overall prognosis for these cancers remains dismal. Areas covered: This paper reviews the cellular and molecular etiologies underlying MPNST development and progression, the diagnostic workup of patients with these malignancies, and the current and investigational treatment options. Areas of controversy in which further research is needed will be highlighted. Expert opinion: MPNSTs remain a therapeutic challenge. Multidisciplinary care at a high volume sarcoma center is essential for optimal outcomes. Further work is needed to develop targeted combinational therapies for these tumors.
- Atypical neurofibromas
- malignant peripheral nerve sheath tumors neurofibromatosis
- plexiform neurofibromas