CNS Tumors in Neurofibromatosis

J Clin Oncol. 2017 Jul 20;35(21):2378-2385. doi: 10.1200/JCO.2016.71.7199. Epub 2017 Jun 22.

Abstract

Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2. Although children with NF1 are at risk for developing low-grade gliomas of the optic pathway and brainstem, individuals with NF2 typically manifest low-grade tumors affecting the cranial nerves (vestibular schwannomas), meninges (meningiomas), and spinal cord (ependymomas). With the identification of the NF1 and NF2 genes, molecularly targeted therapies are beginning to emerge, as a result of a deeper understanding of the mechanisms underlying NF1 and NF2 protein function. As we enter into an era of precision oncology, a more comprehensive awareness of the factors that increase the risk of developing CNS cancers in affected individuals, coupled with a greater appreciation of the cellular and molecular determinants that maintain tumor growth, will undoubtedly yield more effective therapies for these cancer predisposition syndromes.

Publication types

  • Review

MeSH terms

  • Central Nervous System Neoplasms / diagnosis*
  • Central Nervous System Neoplasms / etiology*
  • Central Nervous System Neoplasms / pathology
  • Central Nervous System Neoplasms / therapy*
  • Child
  • Clinical Trials as Topic
  • Combined Modality Therapy
  • Humans
  • Molecular Targeted Therapy
  • Neoplasm Grading
  • Neurofibromatoses / complications*
  • Neurofibromatoses / genetics
  • Neuroimaging
  • Risk Factors