EPID-04. THE NATURAL HISTORY OF NEUROFIBROMATOSIS-1, THE MONTEFIORE EXPERIENCE

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Abstract Neurofibromatosis type 1 (NF1) is a genetic disorder with varying phenotypes that can affect many organ systems. Notably, it has significant clinical variability involving different systems in each individual. Manifestations may also develop and evolve with age. Although current literature has looked into the prevalence of the manifestations of NF1, few have compared the prevalence in populations of diversity. The objective of our study is to describe the clinical manifestations of NF1 seen in an urban neurocutaneous clinic that serves a diverse ethnic and socioeconomic population. We intend to see how the clinical manifestations of our patients compare to what is reported and to better understand the clinical impact and prognoses of NF1 in this population. We performed a retrospective study of patients in our neurocutaneous clinic from May 2014 to December 2020. Of the 89 that fit study criteria, we had a majority of Hispanic and Black patients. We compared our data to two recent NF1 natural history studies, Boulanger et al. and Cnossen et al., using chi-square or Fisher exact test. Results showed that we had a lower incidence of cutaneous neurofibromas (23.6% vs the reported 40%) and lisch nodules (32.6% vs the reported 50%), but a higher incidence of symptomatic plexiform neurofibromas (48.3% vs the reported 25%) and CNS tumors requiring intervention (4.5% vs estimated 2% in compared studies). This may indicate that our population is at higher risk for more serious complications. We speculate that socioeconomic and ethnic diversity may be the driver behind these differences. Our center has also initiated treatment using MEK inhibitors in indicated patients. Due to the differences in clinical manifestations and more severe complications, we recommend closer surveillance in diverse populations. We also advocate for further research in the application of MEK inhibitors beyond second-line therapy.

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