EP211: Incidental cutaneous tumor regression in an adult with NF1 on MEKinist monotherapy

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, occurring on chromosome 17. NF1 affects 1 in 2,600 births and affects all ethnicities, races, and genders equally. NF1 is caused by variants of the tumor suppressor gene NF1, resulting in decreased levels of neurofibromin and the dysregulation of the RAS pathway, including MEK/ERK upregulation. It is characterized by multiple benign and malignant tumors on and throughout the body. More than 90% of adults and many children with NF1 are affected with Cutaneous neurofibromas (cNFs).