Pediatric Neurotrophic Tyrosine Receptor Kinase-rearranged Neoplasm Resembling a Vascular Malformation

Abstract

Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.