Sarcoma

The ERCC2 K751Q variant was significantly correlated with a lower response to cisplatin chemotherapy in osteosarcoma patients and shorter event-free survival. 91 osteosarcoma patients with a median ag… (full text at CIViC)

PMID 19434073 · Caronia et al., 2009 · Open in CIViC

This is the first study showing the ETV6-NTRK3 gene fusion in congenital fibrosarcoma (CFS). Using cytogenetic and FISH analyses, a novel t(12;15)(p13;q25) rearrangement was identified in CFS cases (3… (full text at CIViC)

PMID 9462753 · Knezevich et al., 1998 · Open in CIViC

In this study, a collection of pediatric spindle cell tumors were screened for the ETV6::NTRK3 fusion by RT-PCR. 10 of 11 (91%) cases diagnosed as congenital fibrosarcoma were found to harbor the ETV… (full text at CIViC)

PMID 10895816 · Bourgeois et al., 2000 · Open in CIViC

In this study, the authors analyzed 17 clear cell sarcomas from 16 patients, along with 2 positive control cell lines and 2 melanomas as negative controls, to investigate the prevalence and types of E… (full text at CIViC)

PMID 19561568 · Wang et al., 2009 · Open in CIViC

In this 2018 study by Keiko Segawa et al., the authors analyzed 22 tumors, including 16 clear cell sarcomas of soft tissue (CCSST) and 6 clear cell sarcoma–like gastrointestinal tumors (CCSLGT), to ch… (full text at CIViC)

PMID 30219084 · Segawa et al., 2018 · Open in CIViC

In this 2017 study, the authors utilized SNP arrays, expression profiling, transcriptome, and whole-exome sequencing to further characterize sclerosing epithelioid fibrosarcoma (SEF) and low-grade fi… (full text at CIViC)

PMID 28939748 · Arbajian et al., 2017 · Open in CIViC

In this 2014 study, the authors compared 10 primary sclerosing epithelioid fibrosarcomas (SEF), 4 cases of low-grade fibromyxoid sarcoma (LGFMS), and one primary hybrid SEF/LGFMS. Patients with SEF ra… (full text at CIViC)

PMID 24441665 · Arbajian et al., 2014 · Open in CIViC

Both RT-PCR and PCR were used to detect and confirm the presence of fusion transcripts in RNA extracted from the surgical resections of 74 liposarcomas and 98 lipomas. EWSR1-DDIT3 (EWS-CHOP) was foun… (full text at CIViC)

PMID 20332486 · Kubo et al., 2010 · Open in CIViC

Identified two cases of myxoid liposarcoma with translocations (between 12q13 and 22q12) giving rise to EWSR1-DDIT3 (EWS-CHOP) fusions instead of the more common FUS-DDIT3.

PMID 8637704 · Panagopoulos et al., 1996 · Open in CIViC

The t(21;22) rearrangement resulting in the EWSR1::ERG fusion is associated with the diagnosis of Ewing sarcoma. EWSR1::ERG is the second most common gene fusion reported in this disease.

PMID 23706910 · Warren et al., 2013 · Open in CIViC

Molecular analysis of 30 Ewing tumors (designated as Ewing's sarcomas and primitive neuroectodermal tumors (PNET) in this 1994 paper) from patients with well-documented clinical course was performed. … (full text at CIViC)

PMID 7524604 · Zoubek et al., 1994 · Open in CIViC

An analysis of 85 small blue round cell tumors (SBRCTs) that were negative for EWSR1, CIC, or BCOR by FISH identified 6 FUS::ERG and 1 FUS::FEV fusions. Clinicopathologic characterization of these 7 …

In patients with Ewing's sarcoma, those with type 1 EWS-FLI1 fusions had longer overall survival than those with other types of EWS-FLI1 fusions.

PMID 9552022 · de Alava et al., 1998 · Open in CIViC

t(11;22) rearrangements of EWSR1-FLI1 are diagnostic of ewing sarcoma, and are observed in 90% of cytogenetic samples.

PMID 23706910 · Warren et al., 2013 · Open in CIViC

A total of 85 unrelated cases of Ewing's sarcoma were examined and 83% were found to harbor the t(11;22)(q24;q12) chromosomal abnormality knwon to result in the EWSR1::FLI1 fusion.

PMID 3163261 · Turc-Carel et al., 1988 · Open in CIViC

In a pooled analysis of two phase II studies (n = 66) of advanced translocation-related sarcoma, trabectedin (1.2 mg/m² q3w) produced median PFS 5.6 months (95% CI 4.1–7.3) and median OS 17.5 months (… (full text at CIViC)

PMID 28526720 · Takahashi et al., 2017 · 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

In this single-arm, open-label phase 2 trial, extraskeletal myxoid chondrosarcoma patients treated with pazopanib were reported and 22/23 patients (one patient died before the primary analysis) were e… (full text at CIViC)

PMID 31331701 · Stacchiotti et al., 2019 · Open in CIViC

his report confirms the therapeutic activity of sunitinib in extraskeletal myxoid chondrosarcoma. Genotype/phenotype analyses support a correlation between response and EWSR1-NR4A3 fusion.

PMID 24703573 · Stacchiotti et al., 2014 · Open in CIViC

In a sub-analysis of a randomized phase II trial in extraskeletal myxoid chondrosarcoma (EWSR1-NR4A3 and TAF15-NR4A3 fusions; n = 2) and mesenchymal chondrosarcoma (HEY1-NCOA2 fusion, n = 6)(trabected… (full text at CIViC)

PMID 27418251 · Morioka et al., 2016 · 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

This study presented clinicopathological and molecular findings of TFCP2-rearranged rhabdomyosarcomas with epithelioid and/or spindle cell morphology. The cohort comprised 14 cases, including 3 index … (full text at CIViC)

PMID 31383960 · Le Loarer et al., 2020 · Open in CIViC

This study reported clinicopathologic and molecular features of 25 cases of fusion-driven spindle cell/sclerosing rhabdomyosarcoma (SCSRMS). The tumors occurred in bone (n=19) and soft tissue (n=6). T… (full text at CIViC)

PMID 37422156 · Dehner et al., 2023 · 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