title: HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma.
abstract: Extraskeletal myxoid chondrosarcoma (EMC) is a very rare sarcoma most often arising in the soft tissue. Rare EMC of the bone have been reported. EMC exhibits distinctive clinico-pathological and genetic features; however, despite the name, it lacks any feature of cartilaginous differentiation. EMC is characterized by the rearrangement of the NR4A3, which, in most cases (about 62-75%), is fused with EWSR1 and less frequently with other partners, including TAF15 (27%), TCF12 (4%), TFG, and FUS. We herein report the identification by whole-transcriptome sequencing of HSPA8 as a novel fusion partner of NR4A3 in a case of EMC. FISH analysis confirmed the presence of a genomic HSPA8-NR4A3 translocation in the vast majority of tumor cells. Our findings expand the spectrum of NR4A3 fusion partners involved in EMC pathobiology.
authors.affiliation: "Giorgio Prodi" Cancer Research Center, University of Bologna, Bologna, Italy.
authors.forename: Milena
authors.identifier: 0000-0002-3364-9098
authors.initials: M
authors.lastname: Urbini
authors.affiliation: "Giorgio Prodi" Cancer Research Center, University of Bologna, Bologna, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Astolfi
authors.affiliation: "Giorgio Prodi" Cancer Research Center, University of Bologna, Bologna, Italy.|Department of Specialized, Experimental and Diagnostic Medicine, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
authors.forename: Maria Abbondanza
authors.initials: MA
authors.lastname: Pantaleo
authors.affiliation: Department of Pediatrics, "Lalla Seràgnoli", Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Serravalle
authors.affiliation: Department of Medicine, University of Padua School of Medicine, Padua, Italy.
authors.forename: Angelo Paolo
authors.initials: AP
authors.lastname: Dei Tos
authors.affiliation: Laboratory of Oncologic Research, Istituto Ortopedico Rizzoli, Bologna, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Picci
authors.affiliation: "Giorgio Prodi" Cancer Research Center, University of Bologna, Bologna, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Indio
authors.affiliation: Department of Medicine, University of Padua School of Medicine, Padua, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Sbaraglia
authors.affiliation: Laboratory of Oncologic Research, Istituto Ortopedico Rizzoli, Bologna, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Benini
authors.affiliation: Laboratory of Oncologic Research, Istituto Ortopedico Rizzoli, Bologna, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Righi
authors.affiliation: Laboratory of Oncologic Research, Istituto Ortopedico Rizzoli, Bologna, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Gambarotti
authors.affiliation: Melanoma and Sarcoma Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Gronchi
authors.affiliation: Melanoma and Sarcoma Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Colombo
authors.affiliation: Laboratory of Experimental Molecular Pathology, Department of Diagnostic Pathology and Laboratory, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
authors.forename: Gian Paolo
authors.initials: GP
authors.lastname: Dagrada
authors.affiliation: Laboratory of Experimental Molecular Pathology, Department of Diagnostic Pathology and Laboratory, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Pilotti
authors.affiliation: Oncogenetics and Functional Oncogenomics (FOGG), CRO Aviano National Cancer Institute, Aviano, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Maestro
authors.affiliation: Oncogenetics and Functional Oncogenomics (FOGG), CRO Aviano National Cancer Institute, Aviano, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Polano
authors.affiliation: Department of Specialized, Experimental and Diagnostic Medicine, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
authors.forename: Maristella
authors.initials: M
authors.lastname: Saponara
authors.affiliation: "Giorgio Prodi" Cancer Research Center, University of Bologna, Bologna, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Tarantino
authors.affiliation: "Giorgio Prodi" Cancer Research Center, University of Bologna, Bologna, Italy.|Department of Pediatrics, "Lalla Seràgnoli", Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Pession
authors.affiliation: "Giorgio Prodi" Cancer Research Center, University of Bologna, Bologna, Italy.|Department of Specialized, Experimental and Diagnostic Medicine, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
authors.forename: Guido
authors.initials: G
authors.lastname: Biasco
authors.affiliation: Adult Mesenchymal Tumour and Rare Cancer Medical Oncology Unit, Cancer Medicine Department, Fondazione IRCCS Istituto Nazionale Tumori Milan, Italy.
authors.forename: Paolo Giovanni
authors.initials: PG
authors.lastname: Casali
authors.affiliation: Adult Mesenchymal Tumour and Rare Cancer Medical Oncology Unit, Cancer Medicine Department, Fondazione IRCCS Istituto Nazionale Tumori Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Stacchiotti
mesh_terms: D002813:Chondrosarcoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006119:Groin / Q000000981:diagnostic imaging / Q000473:pathology; D050883:HSC70 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D018204:Neoplasms, Connective and Soft Tissue / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011987:Receptors, Steroid / Q000235:genetics*; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D004268:DNA-Binding Proteins; D050883:HSC70 Heat-Shock Proteins; C494371:HSPA8 protein, human; C490412:NR4A3 protein, human; D015514:Oncogene Proteins, Fusion; D011987:Receptors, Steroid; D011988:Receptors, Thyroid Hormone