Small round cell sarcomas

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Pierron, G. et al. A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. Nat. Genet. 44, 461–466 (2012). This paper describes for the first time BCORCCNB3 sarcomas as biologically distinct from Ewing sarcoma.

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Koelsche, C. et al. DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma. J. Cancer Res. Clin. Oncol. 145, 1273–1281 (2019).

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Antonescu, C. R. et al. Sarcomas with CIC-rearrangements are a distinct pathologic entity with aggressive outcome: a clinicopathologic and molecular study of 115 cases. Am. J. Surg. Pathol. 41, 941–949 (2017). This paper describes for the first time CIC-rearranged sarcomas as distinct entities from other mimics such as Ewing sarcoma.

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Koelsche, C. et al. Sarcoma classification by DNA methylation profiling. Nat. Commun. 12, 498 (2021). In this paper, methylation profiling demonstrates independent clustering of BCOR-rearranged sarcomas, CIC-rearranged sarcomas and Ewing sarcoma, highlighting their distinct nature.

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de Pinieux, G. et al. Nationwide incidence of sarcomas and connective tissue tumors of intermediate malignancy over four years using an expert pathology review network. PLoS ONE 16, e0246958 (2021). This paper contains the most solid epidemiological information for SRCSs to date.

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Honoré, C. et al. Abdominal desmoplastic small round cell tumor: multimodal treatment combining chemotherapy, surgery, and radiotherapy is the best option. Ann. Surg. Oncol. 22, 1073–1079 (2015).

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Wang, W.-L. et al. Expression of ERG, an Ets family transcription factor, identifies ERG-rearranged Ewing sarcoma. Mod. Pathol. 25, 1378–1383 (2012).

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Szuhai, K. et al. The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology. Clin. Cancer Res. 15, 2259–2268 (2009). This paper is the first description of the EWSR1NFATC2 fusion.

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Wang, G. Y. et al. EWSR1-NFATC2 translocation-associated sarcoma clinicopathologic findings in a rare aggressive primary bone or soft tissue tumor. Am. J. Surg. Pathol. 43, 1112–1122 (2019).

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Italiano, A. et al. High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas. Genes Chromosomes Cancer 51, 207–218 (2012).

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Cohen-Gogo, S. et al. Ewing-like sarcomas with BCOR-CCNB3 fusion transcript: a clinical, radiological and pathological retrospective study from the Société Française des Cancers de L’Enfant. Pediatr. Blood Cancer 61, 2191–2198 (2014).

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Lin, S.-H. et al. Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma. PLoS ONE 15, e0237792 (2020).

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Gillani, R. et al. Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes. Am. J. Hum. Genet. 109, 1026–1037 (2022).

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Kim, J., Lee, K. & Pelletier, J. The desmoplastic small round cell tumor t(11;22) translocation produces EWS/WT1 isoforms with differing oncogenic properties. Oncogene 16, 1973–1979 (1998).

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Murphy, A. J. et al. A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity. Hum. Pathol. 39, 1763–1770 (2008).

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Reynolds, P. A. et al. Identification of a DNA-binding site and transcriptional target for the EWS-WT1(+KTS) oncoprotein. Genes Dev. 17, 2094–2107 (2003).

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Kyriazoglou, A. et al. A case series of BCOR sarcomas with a new splice variant of BCOR/CCNB3 fusion gene. In Vivo 34, 2947–2954 (2020).

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