Whole exome sequencing of atypical cellular neurothekeoma, a case report

WES analysis of atypical cellular neurothekeoma, a rare benign soft-tissue tumor that usually arises in the head and neck region, shoulder girdles, and proximal extremities, predominantly in young women. We present the case of an atypical cellular neurothekeoma in the arm of a 49-year-old woman, describing its microscopic features and immunohistochemical profile. Additionally, we present a novel heterozygous predicted inactivating NF1 mutation, not previously reported.