Connective and Soft Tissue Neoplasm

In 4 cases of Anaplastic sarcoma of the kidney ETV6::NTRK3 fusion was negative.

PMID 17895746 · Vujanić et al., 2007 · Open in CIViC

In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included a patient with infantile… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

Plasma ctDNA analysis detected an ETV6:NTRK3 fusion (described by the authors as "ETV6 exon4:NTRK3 exon14" at a VAF of 35.3%) in a female patient with recurrent GIST. Entrectinib therapy (600 mg daily… (full text at CIViC)

PMID 40900786 · Dong et al., 2025 · Open in CIViC

Four out of six patients with infantile fibrosarcoma and a ETV6-NTRK3 fusion had a partial response, the remaining two had a complete response with larotrectinib. Treatment was done within a multicent… (full text at CIViC)

PMID 29606586 · Laetsch et al., 2018 · Open in CIViC

In a pediatric phase 1 trial (NCT02637687) after initial chemotherapy failure, two ETV6-NTRK3 positive children (2 year old and 5 month old) were treated with Larotrectinib, resulting in reduced tumor… (full text at CIViC)

PMID 30204247 · DuBois et al., 2018 · Open in CIViC

This case report describes a male infant with a recurrent (post-resection) infantile fibrosarcoma (IFS) with lymph node involvement and ETV6-NTRK3 fusion. The tumor did not respond to chemotherapy but… (full text at CIViC)

PMID 32223937 · Bielack et al., 2019 · Open in CIViC

Nagasubramanian et al reports on a case of refractory infantile fibrosarcoma (IFS) with constitutive activation of the tropomyosin‐related kinase (TRK) signaling pathway from an ETS variant gene 6–neu… (full text at CIViC)

PMID 27093299 · Nagasubramanian et al., 2016 · 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 study, the authors analyzed 14 cases of angiomatoid fibrous histiocytoma (AFH). The EWSR1::CREB1 fusion associated with t(2;22)(q33;q12) was detected in 13 of 14 tumors by dual‑color and four‑… (full text at CIViC)

PMID 18094413 · Rossi et al., 2007 · Open in CIViC

In this study, the authors analyzed 9 cases of angiomatoid fibrous histiocytoma (AFH). The EWSR1::CREB1 fusion was identified as the predominant molecular alteration, detected in 8 of 9 tumors by RT‑P… (full text at CIViC)

PMID 17724745 · Antonescu et al., 2007 · 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

Drawing on previously published large case series and molecular studies, in this 2015 review the authors summarized clinicopathologic, immunophenotypic, and genetic features of myoepithelial neoplasms… (full text at CIViC)

PMID 25804378 · Jo et al., 2015 · Open in CIViC

In this case report the authors described a myoepithelial carcinoma of soft tissue in a 7-week-old female infant. The tumor was located ventral to the right shoulder and measured 25 mm in diameter. Hi… (full text at CIViC)

PMID 33734915 · Bodis et al., 2021 · 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

The authors performed retrospective analysis of 66 myoepithelial (ME) tumors arising outside the salivary glands, including soft tissue, bone, and visceral lesions. The cohort included 36 females and … (full text at CIViC)

PMID 20815032 · Antonescu et al., 2010 · Open in CIViC