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, M., Astolfi, A., Pantaleo, M.A., Serravalle, S., Dei Tos, A.P., Picci, P., et al. (2017). HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma. GENES, CHROMOSOMES & CANCER, 56(7), 582-586 [10.1002/gcc.22462].
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
