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

Milena Urbini; A. Astolfi; Maria A. Pantaleo; S. Serravalle; Angelo P. Dei Tos; Piero Picci; Valentina Indio; Marta Sbaraglia; Stefania Benini; Alberto Righi; Marco Gambarotti; Alessandro Gronchi; C Colombo; Gian Paolo Dagrada; S. Pilotti; Roberta Maestro; Maurizio Polano; Maristella Saponara; Giuseppe Tarantino; A. 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, A. Astolfi, Maria A. Pantaleo, S. Serravalle, Angelo P. Dei Tos, Piero Picci, Valentina Indio, Marta Sbaraglia, Stefania Benini, Alberto Righi, Marco Gambarotti, Alessandro Gronchi, C Colombo, Gian Paolo Dagrada, S. Pilotti, Roberta Maestro, Maurizio Polano, Maristella Saponara, Giuseppe Tarantino, A. 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 - Apr 6 2017

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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

HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma. / Urbini, Milena; Astolfi, A.; Pantaleo, Maria A.; Serravalle, S.; Dei Tos, Angelo P.; Picci, Piero; Indio, Valentina; Sbaraglia, Marta; Benini, Stefania ; Righi, Alberto ; Gambarotti, Marco ; Gronchi, Alessandro; Colombo, C; Dagrada, Gian Paolo; Pilotti, S.; Maestro, Roberta; Polano, Maurizio; Saponara, Maristella; Tarantino, Giuseppe; Pession, A.; Biasco, Guido; Casali, Paolo Giovanni ; Stacchiotti, Silvia.

In: Genes Chromosomes and Cancer, Vol. 56, No. 7, 06.04.2017, p. 582-586.

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

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

Urbini, Milena ; Astolfi, A. ; Pantaleo, Maria A. ; Serravalle, S. ; Dei Tos, Angelo P. ; Picci, Piero ; Indio, Valentina ; Sbaraglia, Marta ; Benini, Stefania ; Righi, Alberto ; Gambarotti, Marco ; Gronchi, Alessandro ; Colombo, C ; Dagrada, Gian Paolo ; Pilotti, S. ; Maestro, Roberta ; Polano, Maurizio ; Saponara, Maristella ; Tarantino, Giuseppe ; Pession, A. ; Biasco, Guido ; Casali, Paolo Giovanni ; Stacchiotti, Silvia. / HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma. In: Genes Chromosomes and Cancer. 2017 ; Vol. 56, No. 7. pp. 582-586.

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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 A. Astolfi and Pantaleo, {Maria A.} and S. Serravalle and {Dei Tos}, {Angelo P.} and Piero Picci and Valentina Indio and Marta Sbaraglia and Stefania Benini and Alberto Righi and Marco Gambarotti and Alessandro Gronchi and C Colombo and Dagrada, {Gian Paolo} and S. Pilotti and Roberta Maestro and Maurizio Polano and Maristella Saponara and Giuseppe Tarantino and A. Pession and Guido Biasco and Casali, {Paolo Giovanni} and Silvia Stacchiotti",

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AU - Urbini, Milena

AU - Astolfi, A.

AU - Pantaleo, Maria A.

AU - Serravalle, S.

AU - Dei Tos, Angelo P.

AU - Picci, Piero

AU - Indio, Valentina

AU - Sbaraglia, Marta

AU - Benini, Stefania

AU - Righi, Alberto

AU - Gambarotti, Marco

AU - Gronchi, Alessandro

AU - Colombo, C

AU - Dagrada, Gian Paolo

AU - Pilotti, S.

AU - Maestro, Roberta

AU - Polano, Maurizio

AU - Saponara, Maristella

AU - Tarantino, Giuseppe

AU - Pession, A.

AU - Biasco, Guido

AU - Casali, Paolo Giovanni

AU - Stacchiotti, Silvia

PY - 2017/4/6

Y1 - 2017/4/6

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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