Primary Adrenal Angiomatoid Fibrous Histiocytoma With Novel <i>EWSR1-ATF1</i> Gene Fusion Exon–Exon Breakpoint

Abstract

We describe the clinical, pathological, and molecular features of a primary adrenal angiomatoid fibrous histiocytoma (AFH) in an 11-year-old girl presenting with pyrexia of unknown origin. We performed next-generation sequencing-based anchored multiplex polymerase chain reaction (Archer® FusionPlex® sarcoma assay), which revealed an <i>EWSR1-ATF1</i> gene fusion with novel breakpoints in exon 11 of <i>EWSR1</i> and exon 3 of <i>ATF1</i>. The pyrexia resolved fully after surgical resection, and the patient was disease-free on follow-up at 1 year and 6 months. This case exemplifies the value of molecular testing of pediatric neoplasms presenting at unusual sites for diagnosis and identification of novel gene fusion breakpoints.