Soft Tissue Neoplasm

Of the 33 patients with desmoid fibromatosis treated with meloxicam, a COX-2 selective inhibitor, one showed complete remission (CR), 7 partial remission (PR), 12 stable disease (SD), and 13 progressi… (full text at CIViC)

PMID 24788118 · Hamada et al., 2014 · Open in CIViC

A patient with a recurrent, metastatic uterine myxoid neoplasm and a DCTN1-ALK fusion experienced both clinical and radiographic improvement with crizotinib and pazopanib. The patient was initially di… (full text at CIViC)

PMID 26062823 · Subbiah et al., 2015 · 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 inflammat… (full text at CIViC)

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

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

An analysis of DICER1 mutations in anaplastic sarcoma of the kidney identified RNase IIIb DICER1 mutations in 8 of 9 cases (89%). An in vitro cleavage assay of miR122 demonstrated that three of the DI… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

This study, involving 20 pediatric patients, looked at molecular alterations in Lipofibromatosis. RNA sequencing detected EGFR::BRAF fusion in Patient 19 (6-year-old male). The fusion was picked up by… (full text at CIViC)

PMID 30310176 · Al-Ibraheemi et al., 2019 · Open in CIViC

In a cohort of 20 patients with dermatofibrosarcoma protuberans that were previously negative for COL1A1::PDGFB fusion with fluorescence in situ hybridization, RNA-sequencing was applied. novel and re… (full text at CIViC)

PMID 29955147 · Dadone-Montaudié et al., 2018 · Open in CIViC

A 33-year-old Han Chinese woman has been associated with an NTRK fusion cervical sarcoma which was positive for Pan-TRK by immunohistochemistry (IHC) analysis. However, FISH for NTRK1 was negative. Th… (full text at CIViC)

PMID 35572973 · Dang et al., 2022 · Open in CIViC

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

PMID 17895746 · Vujanić et al., 2007 · 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

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

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

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

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

In this 2024 study, the authors analyzed 40 myoepithelial tumors of soft tissue and bone arising in patients ≤21 years of age. The cohort included 22 females and 18 males, with ages ranging from 3 mon… (full text at CIViC)

PMID 38782103 · Logan et al., 2024 · 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 case study was on a 43-year-old female patient with an FN1-ALK gene fusion. In several case reports and phase 1b/phase 2 studies, responses of ALK-positive IMTs to crizotinib have been shown. Cri… (full text at CIViC)

PMID 33007314 · Reinhart et al., 2020 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC)

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

In this study, the authors investigated a case of pseudomyogenic hemangioendothelioma in a 33-year-old woman presenting with multifocal lytic bone lesions. Previous studies had demonstrated recurrent … (full text at CIViC)

PMID 31243110 · Panagopoulos et al., 2019 · Open in CIViC

gene expression assay performed earlier demonstrated a This case report of a patient with refractory breast angiosarcoma shows a potential therapeutic benefit of sunitinib due to the upregulation of V… (full text at CIViC)

PMID 25639617 · Silva et al., 2015 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC)

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

Gastrointestinal stromal tumor patients with KIT exon 11 mutations were stratified based on the location of their pathogenic variant in exon 11 and those with a deletion or deletion/insertion of codon… (full text at CIViC)

PMID 33673554 · Incorvaia et al., 2021 · Open in CIViC

In an in vitro study, an IL-3-independent Ba/F3 cell line expressing the KIT exon 9 A502_Y503dup primary activating mutation demonstrated reduced sensitivity to regorafenib (IC50: 138 nmol/L), imatini… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing KIT A502_Y503dup (502AY in the paper) mutation (overexpression) demonstrated sensitivity to sunitinib treatment (IC50: 5nM) similar to Ba/F3 cells ex… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

Ponatinib possesses potent activity against A829P KIT mutant cells in preclinical experiments. A preclinical study tested the effect of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with repre… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

Ponatinib possesses potent activity against most major clinically-relevant KIT mutants, and has demonstrated preliminary evidence of activity in patients with refractory GIST. These data strongly supp… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

Patient-derived GIST-T1/829 cells with driver mutation KIT 560-578 deletion and secondary KIT A829P mutations were tested for TKI responsiveness. 560-578del and A829P cells (Sunitinib IC50: 1168 nM an… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC)

PMID 16954519 · Heinrich et al., 2006 · Open in CIViC

A novel germline KIT variant, D419del, was discovered in a family with mastocytosis. Case 1, a 60 year old German woman, also had a gastrointestinal stromal tumor (GIST) and dysphagia. Case 2, her 38 … (full text at CIViC)

PMID 16143141 · Hartmann et al., 2005 · Open in CIViC

Family with both familial GISTs and mastocytosis expressed a novel germline KIT mutation in exon 8 (p.419del) affecting the extracellular domain of KIT. This mutation activates KIT, and the mutant KIT… (full text at CIViC)

PMID 16143141 · Hartmann et al., 2005 · Open in CIViC

Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib.

PMID 21364689 · Pierotti et al., 2011 · Open in CIViC

Patient 74 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) KIT D579 deletio… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC