Neurofibromatosis type 2 in the elderly population: clinical and molecular features

Abstract

Neurofibromatosis type 2 (NF2) is rare genetic disorder characterized by the development of multiple benign tumors of the nervous system. The majority of people with NF2 are diagnosed in the second or third decade of life with bilateral vestibular schwannomas. Among NF2 patients followed up in our NF2 clinic, seven patients have been diagnosed with NF2 after the age of 70 years. Bilateral vestibular schwannomas were present in 4/7 patients. No NF2 mutation was identified by blood screening, suggesting a high prevalence of NF2 somatic mosaicism. During a mean follow-up of 96 months, 8/11 vestibular schwannomas demonstrated no tumor growth, and only one patient required treatment. Other tumors, including meningiomas and other schwannomas, remained stable. One patient required shunting for secondary normal-pressure hydrocephalus. Thus, NF2 can occasionally be diagnosed in people aged 70 and older, and is characterized by a high prevalence of atypical forms and a low growth potential of tumors, arguing in favor of a wait-and-scan policy as initial management.