| Literature DB >> 28383167 |
Milena Urbini1, Annalisa Astolfi1, Maria Abbondanza Pantaleo1,2, Salvatore Serravalle3, Angelo Paolo Dei Tos4, Piero Picci5, Valentina Indio1, Marta Sbaraglia4, Stefania Benini5, Alberto Righi5, Marco Gambarotti5, Alessandro Gronchi6, Chiara Colombo6, Gian Paolo Dagrada7, Silvana Pilotti7, Roberta Maestro8, Maurizio Polano8, Maristella Saponara2, Giuseppe Tarantino1, Andrea Pession1,3, Guido Biasco1,2, Paolo Giovanni Casali9, Silvia Stacchiotti9.
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.Entities:
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Year: 2017 PMID： 28383167 DOI： 10.1002/gcc.22462
Source DB: PubMed Journal: Genes Chromosomes Cancer ISSN： 1045-2257 Impact factor: 5.006