Mesenchymal Cell Neoplasm

FISH was used to detect HEY1-NCOA2 fusions in 10 paraffin embedded samples from patients diagnosed with mesenchymal chondrosarcoma. HEY1 and NCOA2 are located on the same chromosome but generate disti… (full text at CIViC)

PMID 23252872 · Nakayama 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

6 of 6 patients with mesenchymal chondrosarcoma and sufficient tissue tested positive for NCOA2 rearrangments by FISH supporting that NCOA2 rearrangements (presumably HEY1-NCOA2 translocations) are pr… (full text at CIViC)

PMID 26146478 · Bishop et al., 2015 · Open in CIViC

In two independent in-vitro and PDX models of HEY1::NCOA2 fusion positive mesenchymal chondrosarcoma, imatinib demonstrated a highly selective cytotoxic effect and reduction of growth.

PMID 34837064 · Safaric Tepes et al., 2022 · Open in CIViC

In a sub-analysis of a randomized phase II trial in extraskeletal myxoid chondrosarcoma (EWSR1-NR4A3 and TAF15-NR4A3 fusions) and mesenchymal chondrosarcoma (HEY1-NCOA2 fusion)(trabectedin n = 5; BSC … (full text at CIViC)

PMID 27418251 · Morioka et al., 2016 · 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. HMGA2-LPP was found in 19/98 (19… (full text at CIViC)

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

In a retrospective study, the authors evaluated the association between IDH1/IDH2 mutation and prognosis in patients with high-grade central chondrosarcoma. Although no association was discovered betw… (full text at CIViC)

PMID 31615936 · Zhu et al., 2020 · Open in CIViC

Approximately 1200 mesechymal tumors were screened for IDH1 R132 mutations by Sequenom mass spectrometry, including 220 cartilaginous tumors, 222 osteosarcomas and another 750 bone and soft tissue tum… (full text at CIViC)

PMID 21598255 · Amary et al., 2011 · Open in CIViC

Approximately 1200 mesechymal tumors were screened for IDH1 R132 mutations by Sequenom mass spectrometry, including 220 cartilaginous tumors, 222 osteosarcomas and another 750 bone and soft tissue tum… (full text at CIViC)

PMID 21598255 · Amary et al., 2011 · Open in CIViC

Conditional knock-in of IDH1 R132Q in chondrocytes in of weaned mice resulted in the development of multiple enchondroma-like lesions. Enchondromas are benign cartilage tumors and precursors to malig… (full text at CIViC)

PMID 25730874 · Hirata et al., 2015 · Open in CIViC

Conditional knock-in of IDH1 R132Q in chondrocytes of weaned mice resulted in the development of multiple enchondroma-like lesions. Enchondromas are benign cartilage tumors and precursors to malignan… (full text at CIViC)

PMID 25730874 · Hirata et al., 2015 · Open in CIViC

In a retrospective study, the authors evaluated the association between IDH1/IDH2 mutation and prognosis in patients with high-grade central chondrosarcoma. Although no association was discovered betw… (full text at CIViC)

PMID 31615936 · Zhu et al., 2020 · Open in CIViC

Treatment with bazedoxifene inhibited cell colony formation in rhabdomyosarcoma cell lines RH30 and RD. Addition of excess IL6 reduced the inhibitory effect of bazedoxifene on colony formation.

PMID 28672024 · Xiao et al., 2017 · 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

In an in vitro study, a 32D cell line expressing KIT D579_H580insIDPTQLPYD mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 47.4nM) compared to 32D cells expres… (full text at CIViC)

PMID 24205792 · Zhao et al., 2014 · Open in CIViC

Several preclinical studies were done in order to test the effects of various tyrosine kinase inhibitors (TKIs) on KIT-mutant cell lines derived from Gastrointestinal Stromal Tumor (GIST) patients wit… (full text at CIViC)

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

A preclinical study was done in order to test the effects of a tyrosine kinase inhibitor (TKI) on the ponatinib-sensitive KIT-mutant cell line GIST-T1 derived from Gastrointestinal Stromal Tumor (GIST… (full text at CIViC)

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

Ponatinib possesses potent activity against D816G KIT mutant in preclinical experiments.

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

In an in vitro study, a Ba/F3 cell line expressing KIT W557_K558del primary mutation (known to confer sensitivity to regorafenib) and KIT D816G secondary mutation, KIT D816G was associated with decrea… (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

Ponatinib possesses potent activity against D816H KIT mutant in preclinical experiments.

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

In an in vitro study, a 32D cell line expressing KIT D816V mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 294.7nM) compared to 32D cells expressing wild-type … (full text at CIViC)

PMID 24205792 · Zhao et al., 2014 · Open in CIViC

Sunitinib has shown efficacy against certain imatinib-resistant mutants, although a subset that resides in the activation loop, including D816H/V, remains resistant. Biochemical and structural studies… (full text at CIViC)

PMID 19164557 · Gajiwala et al., 2009 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing KIT 557-558del primary mutation (known to confer sensitivity to regorafenib) was incubated in various concentrations of ponatinib, sunitinib, or rego… (full text at CIViC)

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

In an in vitro study, a 32D cell line expressing KIT D816Y mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 73.1nM) compared to 32D cells expressing wild-type K… (full text at CIViC)

PMID 24205792 · Zhao 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

In an in vitro study, Ba/F3 cell lines expressing KIT primary mutations and KIT D820A secondary mutation, KIT D820A was associated with similar sensitivity to ponatinib treatment compared to Ba/F3 cel… (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

This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients refractory to at least imatinib a… (full text at CIViC)

PMID 22614970 · George et al., 2012 · 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

In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC)

PMID 26772734 · Reichardt et al., 2016 · 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

Patients with Exon 11 Kit mutations (N=85) had significantly better event-free and overall survival than patients with Exon 9 Kit mutations (N=23) or no Kit mutations (N=9).

PMID 14645423 · Heinrich et al., 2003 · Open in CIViC