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.

HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma

Urbini, Milena
;
Astolfi, Annalisa;Pantaleo, Maria Abbondanza;Picci, Piero;Indio, Valentina;Righi, Alberto;Gambarotti, Marco;Saponara, Maristella;Tarantino, Giuseppe;Pession, Andrea;Biasco, Guido;
2017

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.
Urbini, Milena; Astolfi, Annalisa; Pantaleo, MARIA ABBONDANZA; Serravalle, Salvatore; Dei Tos, Angelo Paolo; Picci, Piero; Indio, Valentina; Sbaraglia, Marta; Benini, Stefania; Righi, Alberto; Gambarotti, Marco; Gronchi, Alessandro; Colombo, Chiara; Dagrada, Gian Paolo; Pilotti, Silvana; Maestro, Roberta; Polano, Maurizio; Saponara, Maristella; Tarantino, Giuseppe; Pession, Andrea; Biasco, Guido; Casali, Paolo Giovanni; Stacchiotti, Silvia
File in questo prodotto:
Eventuali allegati, non sono esposti

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/610754
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 9
  • Scopus 22
  • ???jsp.display-item.citation.isi??? 21
social impact