Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …

The wide variety of clinical manifestations of the genetic syndrome neurofibromatosis type 1
(NF1) are driven by overactivation of the RAS pathway. Mitogen-activated protein kinase …

Disclaimer This practice resource is designed primarily as an educational resource for
medical geneticists and other clinicians to help them provide quality medical services …

Summary Patients with neurofibromatosis 1 (NF1) develop multiple neurofibromas, with 8%
to 15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during …

The brachial plexus is an intricate anatomic structure with an important function: providing
innervation to the upper extremity, shoulder, and upper chest. Owing to its complex form and …

Undifferentiated pleomorphic sarcomas, myxofibrosarcomas, and malignant peripheral
nerve sheath tumors are characterized by complex genomic characteristics and aggressive …

Abstract Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and
schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a …

Abstract Background Plexiform neurofibromas (PNs) are benign peripheral nerve sheath
tumors that arise in one-third of individuals with neurofibromatosis type 1 (NF1). They may …

Malignant peripheral nerve sheath tumor (MPNST) is the leading cause of mortality in
patients with neurofibromatosis type 1. In 2002, an MPNST consensus statement reviewed …

Abstract Background Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder
caused by germline mutations in NF1. NF1 patients have an 8–16% lifetime risk of …