Molecular genetic alterations in malignant peripheral nerve sheath tumors

Malignant peripheral nerve sheath tumor is a highly aggressive soft tissue tumor which is derived from neoplastic Schwann cells in most cases. Although sporadic malignant peripheral nerve sheath tumors are infrequent, their occurrence is considerably raised in the setting of neurofibromatosis Type 1. Allelic losses at the neurofibromatosis Type 1 locus on chromosome 17q are the best studied genetic alterations underlying malignant peripheral nerve sheath tumor so far. However, recent studies have suggested that alterations in cell cycle regulators, such as p53, are also involved in malignant peripheral nerve sheath tumor tumorigenesis. This review will focus on new findings about the molecular genetic alterations in both sporadic and neurofibromatosis Type 1-related malignant peripheral nerve sheath tumors, and will discuss their impact on further diagnostic advances, as well as on the clinical course of this tumor.