Clinic-based study of plexiform neurofibromas in neurofibromatosis 1

Individuals with neurofibromatosis 1 (NF1) develop both benign and malignan t tumors at an increased frequency. One of the most common benign tumors in NF1 is the plexiform neurofibroma, These tumors cause significant morbidit y and mortality on account of their propensity to grow and affect adjacent normal tissues. To determine the clinical profile of plexiform neurofibroma s in NF1, we conducted a retrospective review of 68 NF1 patients with plexi form 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 ple xiform neurofibromas, Lastly, we demonstrate that there were no specific cl inical features of NF1 associated with the presence of plexiform neurofibro ma, These results underscore the importance of careful serial examinations in the evaluation of patients with NF1. Am. J. Med. Genet. 92:132-135, 2000 , (C) 2000 Wiley-Liss, Inc.