Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1

Chunhui Jiang, Renée M. McKay, Sang Y. Lee, Carlos G. Romo, Jaishri O. Blakeley, Muzlifah Haniffa, Eduard Serra, Matthew R. Steensma, David Largaespada, Lu Q. Le

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Neurofibromatosis type 1 is one of the most common genetic disorders of the nervous system and predisposes patients to develop benign and malignant tumors. Cutaneous neurofibromas (cNFs) are NF1-associated benign tumors that affect nearly 100% of patients with NF1. cNFs dramatically reduce patients’ QOL owing to their unaesthetic appearance, physical discomfort, and corresponding psychological burden. There is currently no effective drug therapy option, and treatment is restricted to surgical removal. One of the greatest hurdles for cNF management is the variability of clinical expressivity in NF1, resulting in intrapatient and interpatient cNF tumor burden heterogeneity, that is, the variability in the presentation and evolution of these tumors. There is growing evidence that a wide array of factors are involved in the regulation of cNF heterogeneity. Understanding the mechanisms underlying this heterogeneity of cNF at the molecular, cellular, and environmental levels can facilitate the development of innovative and personalized treatment regimens.

Original languageEnglish (US)
Pages (from-to)1369-1377
Number of pages9
JournalJournal of Investigative Dermatology
Volume143
Issue number8
DOIs
StatePublished - Aug 2023

Bibliographical note

Publisher Copyright:
© 2023 The Authors

Keywords

  • ECM
  • GEM
  • KO
  • LOH
  • MAPK/extracellular signal–regulated kinase kinase
  • MEK
  • MPNST
  • NF1
  • cNF
  • cutaneous neurofibroma
  • extracellular matrix
  • genetically engineered mouse
  • knockout
  • loss of heterozygosity
  • malignant peripheral nerve sheath tumor
  • neurofibromatosis type 1
  • pNF
  • plexiform neurofibroma

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