title: Osteosarcoma With Apparent Ewing Sarcoma Gene Rearrangement.
abstract: Poorly differentiated round cell sarcomas present diagnostic challenges because of their variable morphology and lack of specific immunophenotypic markers. We present a case of a 15-year-old female with a tibial tumor that exhibited features of Ewing-like sarcoma, including apparent rearrangement of the EWSR1 gene. Hybridization capture-based next-generation DNA sequencing showed evidence of complex genomic rearrangements, absence of known pathogenic Ewing-like chromosome translocations, and deletions RB1, PTCH1, and ATRX, supporting the diagnosis of osteosarcoma. This illustrates the potential of clinical genomic profiling to improve diagnosis and enable specifically targeted therapies for cancers with complex pathologies.
authors.affiliation: Departments of *Pediatrics†Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
authors.forename: Melissa D
authors.initials: MD
authors.lastname: Mathias
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Chou
authors.forename: Paul
authors.initials: P
authors.lastname: Meyers
authors.forename: Neerav
authors.initials: N
authors.lastname: Shukla
authors.forename: Meera
authors.initials: M
authors.lastname: Hameed
authors.forename: Narasimhan
authors.initials: N
authors.lastname: Agaram
authors.forename: Lu
authors.initials: L
authors.lastname: Wang
authors.forename: Michael F
authors.initials: MF
authors.lastname: Berger
authors.forename: Michael
authors.initials: M
authors.lastname: Walsh
authors.forename: Alex
authors.initials: A
authors.lastname: Kentsis
mesh_terms: D000293:Adolescent; D002148:Calmodulin-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D012516:Osteosarcoma / Q000175:diagnosis* / Q000235:genetics; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics; D012512:Sarcoma, Ewing / Q000175:diagnosis* / Q000235:genetics; D017422:Sequence Analysis, DNA; D013977:Tibia / Q000473:pathology
chemical_list: D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins