Table 1:

Clinical entities discussed in this review.

Abbreviation	Term and Description
NF-1	• Neurofibromatosis Type 1 • Disease results from heterozygous germline loss of function mutations in NF1
NF1	• Neurofibromin 1 • 2,818 amino acid protein • Functions include RAS GAP, cyclic AMP regulation, and microtubule binding • Tumor suppressor
SPC	• Schwann precursor cell • Cell type in the developmental lineage of Schwann cells • Plexiform neurofibromas, atypical neurofibromas, and malignant peripheral nerve sheath tumors arise from this lineage
SC	• Schwann cell • Supports peripheral nerves • NF-1 associated neurofibromas can rise from this cell type
PN	• Plexiform neurofibroma • Large benign neurofibroma variant • Heterogenous cellular composition • Can cause pain, disfigurement, local tissue dysfunction
ANF	• Atypical neurofibroma • Nonmalignant tumor • Thought to develop from plexiform neurofibromas • Has mutations in tumor suppressors in addition to NF1
MPNST	• Malignant peripheral nerve sheath tumor • Malignant sarcoma with metastatic potential • Develop from nonmalignant neurofibromas in some NF-1 patients • Can arise sporadically in individuals without NF-1
NF-1 Microdeletion Syndrome	• NF-1 variant • Entire NF1 gene deleted • Other genes in region are lost, including SUZ12 • More frequent and numerous plexiform neurofibromas • Higher MPNST risk