TY - JOUR
T1 - HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma
AU - Urbini, Milena
AU - Astolfi, Annalisa
AU - Pantaleo, Maria Abbondanza
AU - Serravalle, Salvatore
AU - Dei Tos, Angelo Paolo
AU - Picci, Piero
AU - Indio, Valentina
AU - Sbaraglia, Marta
AU - Benini, Stefania
AU - Righi, Alberto
AU - Gambarotti, Marco
AU - Gronchi, Alessandro
AU - Colombo, Chiara
AU - Dagrada, Gian Paolo
AU - Pilotti, Silvana
AU - Maestro, Roberta
AU - Polano, Maurizio
AU - Saponara, Maristella
AU - Tarantino, Giuseppe
AU - Pession, Andrea
AU - Biasco, Guido
AU - Casali, Paolo Giovanni
AU - Stacchiotti, Silvia
PY - 2017/7/1
Y1 - 2017/7/1
N2 - 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.
AB - 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.
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U2 - 10.1002/gcc.22462
DO - 10.1002/gcc.22462
M3 - Article
VL - 56
SP - 582
EP - 586
JO - Genes Chromosomes and Cancer
JF - Genes Chromosomes and Cancer
SN - 1045-2257
IS - 7
ER -