Clinic-based study of plexiform neurofibromas in neurofibromatosis 1

Am J Med Genet. 2000 May 15;92(2):132-5.

Abstract

Individuals with neurofibromatosis 1 (NF1) develop both benign and malignant tumors at an increased frequency. One of the most common benign tumors in NF1 is the plexiform neurofibroma. These tumors cause significant morbidity and mortality on account of their propensity to grow and affect adjacent normal tissues. To determine the clinical profile of plexiform neurofibromas in NF1, we conducted a retrospective review of 68 NF1 patients with plexiform neurofibroma. In our series, 44% of tumors were detected by 5 years of age and most were located in the trunk and extremities. Only two patients developed malignant peripheral nerve sheath tumors in their preexisting plexiform neurofibromas. Lastly, we demonstrate that there were no specific clinical features of NF1 associated with the presence of plexiform neurofibroma. These results underscore the importance of careful serial examinations in the evaluation of patients with NF1.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Medical Records
  • Neurofibroma, Plexiform / etiology
  • Neurofibroma, Plexiform / pathology*
  • Neurofibromatosis 1 / complications
  • Neurofibromatosis 1 / pathology*
  • Retrospective Studies