The clinical landscape of cutaneous neurofibromas in neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is a hereditary tumor predisposition syndrome that predisposes patients to tumors derived from the neural crest cell population. One of the most prominent and well-recognized features is the proclivity for nerve sheath tumors of the skin known as cutaneous neurofibromas (CNs). These tumors are benign and have self-limited growth, but they exert a strong negative impact on patients’ quality of life. The only effective treatments currently are procedural, and there are no available medications. This review addresses the cellular and molecular characteristics of cutaneous neurofibromas with a focus on identifying novel therapeutic targets that could complement existing approaches. Preclinical models, tumor evolution throughout the lifespan, genetic associations with tumor phenotype, and a brief history of interventional clinical trials are also discussed.

Keywords

Cutaneous neurofibroma / skin tumor / neurofibromatosis / NF1 / peripheral nerve sheath tumor / rasopathy / neurocristopathy

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