Small Cell Sarcoma

This study consists of a cohort of 42 pediatric and adult patients with sarcomas that were classified as undifferentiated. Six of the forty two patients had BCOR::CCNB3 fusions detected by whole trans… (full text at CIViC)

PMID 25360585 · Peters et al., 2015 · Open in CIViC

Kao, et al. (2018) presented 36 BCOR::CCNB3 sarcoma cases (86% were males; mean and median age at presentation was 15 years (range from 2 to 44 years); 78% showed mainly primitive round cells morpholo… (full text at CIViC)

PMID 29300189 · Kao et al., 2018 · Open in CIViC

In this 2017 study reviewing 753 sarcoma cases, 11 tumors with the BCOR::CCNB3 fusion were identified using immunohistochemistry and RT-PCR. These tumors were found exclusively in males, with a mean a… (full text at CIViC)

PMID 28420319 · Ludwig et al., 2017 · Open in CIViC

BCOR expression was evaluated in a cohort of 25 small blue round cell tumors (SBRCTs) with BCOR fusions (BCOR::MAML3, BCOR::CCNB3), BCOR exon 15 ITDs, or YWHAE-NUTM2B fusion (which is known to upregul… (full text at CIViC)

PMID 27428733 · Kao et al., 2016 · Open in CIViC

This study consists of a cohort of 115 patients with a class of sarcomas that had similar morphology to Ewing sarcoma. The presence of a CIC rearrangement was detected in all the cases by FISH. Previo… (full text at CIViC)

PMID 28346326 · Antonescu et al., 2017 · Open in CIViC

The authors recognize that differentiating between Ewing sarcoma and CIC::DUX4 fusion associated sarcoma can be challenging due to overlapping histological and immunohistochemical phenotypes. In this… (full text at CIViC)

PMID 35151033 · Song et al., 2022 · Open in CIViC

The cohort included 44 CIC-rearranged sarcomas (CIC-RS), comprising 18 central nervous system (CNS) and 26 extra-CNS tumors. RNA sequencing (n=27) identified CIC::DUX4 (n=15), CIC::NUTM1 (n=4), CIC::L… (full text at CIViC)

PMID 39985394 · Koo et al., 2025 · Open in CIViC

This analysis of small round cell tumors of the bone identified 3 with EWSR1::NFATC2 fusions and 1 with a FUS::NFATC2 fusion. The authors extended their review to an additional 45 cases in the litera… (full text at CIViC)

PMID 31078563 · Diaz-Perez et al., 2019 · Open in CIViC

A small case series examined molecular features along with clinicopathologic and immunohistochemical characteristics of sarcomas with EWSR1::NFATC2 gene fusions. The study included 6 cases (5 males an… (full text at CIViC)

PMID 30994538 · Wang et al., 2019 · Open in CIViC

This case series study reported 11 neoplasms harboring the EWSR1::PATZ1 gene fusion with 7 in the soft tissue and 4 in the brain. Paired-end sequencing identified a somatic intra-chromosomal paracentr… (full text at CIViC)

PMID 31189996 · Bridge et al., 2019 · Open in CIViC

This case series study presented clinical, histopathological, and molecular findings of 9 EWSR1::PATZ1-rearranged sarcomas, including one previously reported case. The cohort included 4 males and 5 fe… (full text at CIViC)

PMID 33012788 · Michal et al., 2021 · Open in CIViC

In an analysis of a cohort of desmoplastic small round cell tumor, evidence of a functional EWSR1::WT1 fusion was detected in 25 of 26 cases. In these cases, the genomic breakpoints in WT1 was in in… (full text at CIViC)

PMID 9738572 · Gerald et al., 1998 · Open in CIViC

In an analysis of 6 desmoplastic small round cell tumors, chimeric EWSR1::WT1 transcripts were detected in 4. The translocation resulted in an in-frame fusion of the N terminus (first 7 exons) of EWS… (full text at CIViC)

PMID 7862627 · Gerald et al., 1995 · Open in CIViC

This analysis of small round cell tumors of the bone identified 3 with EWSR1::NFATC2 fusions and 1 with a FUS::NFATC2 fusion. The authors extended their review to an additional 45 cases in the litera… (full text at CIViC)

PMID 31078563 · Diaz-Perez et al., 2019 · Open in CIViC

This is the first study to identify the FUS::NFATC2 gene fusion. Using multi-omics approach and targeted sequencing, the authors comprehensively characterized the molecular landscape of a large cohort… (full text at CIViC)

PMID 25010205 · Brohl et al., 2014 · Open in CIViC

A HEY1-NCOA2 fusion joining exon 4 of HEY1 to exon 13 of NCOA2 was identified in 10 mesenchymal chondrosarcomas but was absent from all other sarcoma types tested including other chondrosarcoma subtyp… (full text at CIViC)

PMID 22034177 · Wang et al., 2012 · Open in CIViC

Meningeal hemangiopericytoma (HPC) and mesenchymal chondrosarcoma (MC) are aggressive neoplasms with overlapping clinical presentations and morphology. Thirteen FFPE samples of MC (9 females, 4 males)… (full text at CIViC)

PMID 24124145 · Fritchie et al., 2013 · Open in CIViC