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

Milena Urbini; Annalisa Astolfi; Maria Abbondanza Pantaleo; Salvatore Serravalle; Angelo Paolo Dei Tos; Piero Picci; Valentina Indio; Marta Sbaraglia; Stefania Benini; Alberto Righi; Marco Gambarotti; Alessandro Gronchi; Chiara Colombo; Gian Paolo Dagrada; Silvana Pilotti; Roberta Maestro; Maurizio Polano; Maristella Saponara; Giuseppe Tarantino; Andrea Pession; Guido Biasco; Paolo Giovanni Casali; Silvia Stacchiotti

doi:10.1002/gcc.22462

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

Milena Urbini, Annalisa Astolfi, Maria Abbondanza Pantaleo, Salvatore Serravalle, Angelo Paolo Dei Tos, Piero Picci, Valentina Indio, Marta Sbaraglia, Stefania Benini, Alberto Righi, Marco Gambarotti, Alessandro Gronchi, Chiara Colombo, Gian Paolo Dagrada, Silvana Pilotti, Roberta Maestro, Maurizio Polano, Maristella Saponara, Giuseppe Tarantino, Andrea PessionGuido Biasco, Paolo Giovanni Casali, Silvia Stacchiotti

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	582-586
Number of pages	5
Journal	Genes Chromosomes and Cancer
Volume	56
Issue number	7
DOIs	https://doi.org/10.1002/gcc.22462
Publication status	Published - Jul 1 2017

ASJC Scopus subject areas

Genetics
Cancer Research

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10.1002/gcc.22462

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Urbini, M., Astolfi, A., Pantaleo, M. A., Serravalle, S., Dei Tos, A. P., Picci, P., Indio, V., Sbaraglia, M., Benini, S., Righi, A., Gambarotti, M., Gronchi, A., Colombo, C., Dagrada, G. P., Pilotti, S., Maestro, R., Polano, M., Saponara, M., Tarantino, G., ... Stacchiotti, S. (2017). HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma. Genes Chromosomes and Cancer, 56(7), 582-586. https://doi.org/10.1002/gcc.22462

Urbini, M, Astolfi, A, Pantaleo, MA, Serravalle, S, Dei Tos, AP, Picci, P, Indio, V, Sbaraglia, M, Benini, S , Righi, A , Gambarotti, M , Gronchi, A , Colombo, C , Dagrada, GP, Pilotti, S, Maestro, R , Polano, M, Saponara, M, Tarantino, G, Pession, A, Biasco, G, Casali, PG & Stacchiotti, S 2017, 'HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma', Genes Chromosomes and Cancer, vol. 56, no. 7, pp. 582-586. https://doi.org/10.1002/gcc.22462

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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.",

author = "Milena Urbini and Annalisa Astolfi and Pantaleo, {Maria Abbondanza} and Salvatore Serravalle and {Dei Tos}, {Angelo Paolo} and Piero Picci and Valentina Indio and Marta Sbaraglia and Stefania Benini and Alberto Righi and Marco Gambarotti and Alessandro Gronchi and Chiara Colombo and Dagrada, {Gian Paolo} and Silvana Pilotti and Roberta Maestro and Maurizio Polano and Maristella Saponara and Giuseppe Tarantino and Andrea Pession and Guido Biasco and Casali, {Paolo Giovanni} and Silvia Stacchiotti",

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doi = "10.1002/gcc.22462",

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

Abstract

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