Neurofibromatosis- and schwannomatosis-associated tumors: Approaches to genetic testing and counseling considerations

Am J Med Genet A. 2023 Oct;191(10):2467-2481. doi: 10.1002/ajmg.a.63346. Epub 2023 Jul 24.


Neurofibromatosis (NF) and schwannomatosis (SWN) are genetic conditions characterized by the risk of developing nervous system tumors. Recently revised diagnostic criteria include the addition of genetic testing to confirm a pathogenic variant, as well as to detect the presence of mosaicism. Therefore, the use and interpretation of both germline and tumor-based testing have increasing importance in the diagnostic approach, treatment decisions, and risk stratification of these conditions. This focused review discusses approaches to genetic testing of NF- and SWN-related tumor types, which are somewhat rare and perhaps lesser known to non-specialized clinicians. These include gastrointestinal stromal tumors, breast cancer, plexiform neurofibromas with or without transformation to malignant peripheral nerve sheath tumors, gliomas, and schwannomas, and emphasizes the need for inclusion of genetic providers in patient care and appropriate pre- and post-test education, genetic counseling, and focused evaluation by a medical geneticist or other healthcare provider familiar with clinical manifestations of these disorders.

Keywords: breast cancer; gastrointestinal stromal tumor; genetic counseling; genetic testing; glioma; neurofibromatosis; plexiform neurofibroma; schwannoma; schwannomatosis.

Publication types

  • Review

MeSH terms

  • Counseling
  • Genetic Testing
  • Humans
  • Neurilemmoma* / diagnosis
  • Neurilemmoma* / genetics
  • Neurofibromatoses* / diagnosis
  • Neurofibromatoses* / genetics
  • Neurofibromatoses* / pathology
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 1* / genetics
  • Neurofibromatosis 1* / pathology
  • Neurofibromatosis 2* / diagnosis
  • Neurofibromatosis 2* / genetics
  • Neurofibromatosis 2* / therapy

Supplementary concepts

  • Schwannomatosis