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  • Review Article
  • Published:

Advances in the treatment of neurofibromatosis-associated tumours

Nature Reviews Clinical Oncology volume 10, pages 616–624 (2013)Cite this article

Subjects

Key Points

  • Neurofibromatosis type 1 and type 2 are distinct genetic disorders characterized by an increased incidence of tumour development

  • Identification of the NF1 and NF2 genes has resulted in the discovery of new targets for therapeutic drug design

  • Numerous small-animal models of NF1-associated and NF2-associated tumours have been developed

  • Current investigational therapies for tumours arising in individuals with NF1 and NF2 target both deregulated growth control pathways as well as the tumour microenvironment

Abstract

Neurofibromatosis (NF) comprises two distinct genetic disorders—neurofibromatosis type 1 and 2 (NF1 and NF2)—in which affected individuals develop both benign and malignant tumours. NF1 results from germline mutations in the NF1 gene that encodes neurofibromin, while NF2 results from germline mutations in the NF2 gene that encodes merlin (or schwannomin). The major tumour types arising in individuals with NF1 include neurofibromas, malignant peripheral nerve sheath tumours, and gliomas, whereas NF2 is characterized by the formation of schwannomas, meningiomas, and ependymomas. With the identification of the NF1 and NF2 genes and the generation of robust preclinical mouse models of NF-associated neoplasms, novel treatments that specifically target the growth control pathways deregulated in these tumours have been discovered, some of which are now being tested in clinical trials in individuals with NF1 and NF2. In this Review, we will highlight the key clinical features of NF1 and NF2 and the advances in future clinical management based on an improved understanding of the function of the NF1 and NF2 genes and the development of small-animal models.

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Figure 1: Tumours arising in individuals with NF1.
Figure 2: Tumours arising in individuals with NF2.
Figure 3: Neurofibromin and merlin growth control pathways.
Figure 4: Targets for NF therapeutic drug design.

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  1. Department of Neurology, Washington University School of Medicine, Box 8111, 660 S. Euclid Avenue, St Louis, 63110, MO, USA

    Andrew L. Lin & David H. Gutmann

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Both authors researched the data for the article, made substantial contributions to the discussion of the content, wrote the article and reviewed and edited it prior to submission.

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Lin, A., Gutmann, D. Advances in the treatment of neurofibromatosis-associated tumours. Nat Rev Clin Oncol 10, 616–624 (2013). https://doi.org/10.1038/nrclinonc.2013.144

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