Clinical Assessment of Tumor Predisposition Syndromes: Related Nerve Sheath Tumors in Children

Cranial and peripheral nerve sheath tumors (NSTs) comprise a heterogeneous group of benign and malignant soft tissue tumors of neuroectodermal origin associated with nerve structures. Among benign NSTs, neurofibromas and schwannomas are more common and occur sporadically in 95% of cases; in the remainder cases, they can be part of some genetically distinct tumor predisposition syndromes such as neurofibromatosis type 1 (NF1) and NF2 gene-related or not-related schwannomatosis (SWN). Malignant peripheral NSTs are rare with a higher incidence in NF1 patients. While these tumor predisposition syndromes should be suspected at any age in case of multiple NSTs, in pediatric age they should also be suspected in case of single NST, as it may represent the first or most evident sign. The NF1 and SWN main features are summarized by focusing on the types of NSTs that characterize these syndromes. In addition to the main clinical, pathological, and radiological characteristics of the NSTs, the recent management recommendations, with particular emphasis in pediatric age, are reported.