Primary Adrenal Angiomatoid Fibrous Histiocytoma With Novel EWSR1-ATF1 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 EWSR1-ATF1 gene fusion with novel breakpoints in exon 11 of EWSR1 and exon 3 of ATF1. 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.

An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB‐fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts

“…Although most cases grouped together and the existence of a distinct methylation class could potentially be masked by the low number of cases included, the remaining tumor samples did segregate into different groups. First, one of our cases shared clinical (young age), radiological (presence of a cystic component) ( 57 ), histopathological (presence of the triad), and molecular ( EWSR1:ATF1 fusion, the preferential fusion transcripts in AFH of the soft tissue ( 2 , 3 , 4 , 5 , 7 , 8 , 12 , 13 , 15 , 16 , 17 , 18 , 58 , 59 , 60 , 61 , 62 , 63 , 64 )) features with AFH of the soft tissue but no other tumor location was found. Further samples with DNA‐methylation analyses are needed to confirm that true primary AFH exist in the CNS.…”

“…Among them, angiomatoid fibrous histiocytomas (AFH), clear cell sarcomas (CCS), gastrointestinal neuroectodermal tumors (GNET), and primary pulmonary myxoid sarcomas (PPMS) present clinical (location, age at diagnosis, prognosis), histopathological, and even molecular (frequency of gene fusion partner) differences. AFH are classically benign soft tissue tumors usually located in the extremities of children and young adults ( 1 , 2 , 3 , 4 ). Histopathologically, AFH are defined by a morphological triad: (1) blood‐filled pseudoangiomatoid cystic spaces, (2) a lymphoplasmacytic peripheral cuff, and (3) a fibrous pseudocapsule.…”