Cancer Family
Sarcoma
CI-CAN-00000344SARExplore in graph →
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Cancer Family
CI-CAN-00000344SARExplore in graph →
Variants & evidence
256 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| FGFR1 Amplification1 | ||||||||
| Ponatinib | Bone Ewing SarcomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1247116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC) PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC | civic |
| FGFR1 Expression1 | ||||||||
| Fexagratinib + FGF/VEGF Receptor Tyrosine Kinase Inhibitor, PD173074 + InfigratinibSubstitutes | Sarcoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID2915Targeting of FGFR1 by RNA interference and small-molecule inhibitors (PD173074, AZD4547, BGJ398) revealed that the requirement for FGFR1 signaling in STS cells is dictated by FGFR1 expression levels, … (full text at CIViC) PMID 27535980 · Chudasama et al., 2017 · Open in CIViC | civic |
| FGFR1 N546K1 | ||||||||
| Ponatinib | Bone Ewing SarcomaALIAS | Predictive | E | Supports Sensitivity Response | 2 | accepted | EID1246116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC) PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC | civic |
| FGFR3 Amplification1 | ||||||||
| Pazopanib | Ewing Sarcoma | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID7835Clinical trial of soft tissue sarcoma patients found no responses to pazopanib + trametinib combination in Ewing sarcoma patients. Comparison was done to previously treated Ewing sarcoma that responde… (full text at CIViC) PMID 28377484 · Subbiah et al., 2017 · Open in CIViC | civic |
| FGFR4 Amplification1 | ||||||||
| Pazopanib | Ewing Sarcoma | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID7836Clinical trial of soft tissue sarcoma patients found no responses to pazopanib + trametinib combination in Ewing sarcoma patients. Comparison was done to previously treated Ewing sarcoma that responde… (full text at CIViC) PMID 28377484 · Subbiah et al., 2017 · Open in CIViC | civic |
| FGFR4 N535K1 | ||||||||
| FGF/VEGF Receptor Tyrosine Kinase Inhibitor, PD173074 | Rhabdomyosarcoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID8906FGFR4 tyrosine kinase domain mutations were found among 7 of 94 (7.5%) primary human RMS tumors. The mutants K535 and E550 increased autophosphorylation, Stat3 signaling, tumor proliferation, and meta… (full text at CIViC) PMID 19809159 · Taylor et al., 2009 · Open in CIViC | civic |
| FGFR4 Overexpression1 | ||||||||
| Ponatinib | Alveolar Rhabdomyosarcoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID7137Indeed, cell lines expressing the highest levels of FGFR4 (above a relative level of six) were the most sensitive to ponatinib (Figure 1C, p = 0.0344). These results, therefore, suggest that increased… (full text at CIViC) PMID 24124571 · Li et al., 2013 · Open in CIViC | civic |
| FGFR4 V550E1 | ||||||||
| FGF/VEGF Receptor Tyrosine Kinase Inhibitor, PD173074 | Rhabdomyosarcoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID8907FGFR4 tyrosine kinase domain mutations were found among 7 of 94 (7.5%) primary human RMS tumors. The mutants K535 and E550 increased autophosphorylation, Stat3 signaling, tumor proliferation, and meta… (full text at CIViC) PMID 19809159 · Taylor et al., 2009 · Open in CIViC | civic |
| FLT4 Amplification2 | ||||||||
| Pazopanib | Angiosarcoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID5911One patient with angiosarcoma was initially treated with sorafenib, an inhibitor of VEGFR2, and developed progressive disease. The patient then received pazopanib, an inhibitor of VEGFR2 and VEGFR3 an… (full text at CIViC) PMID 27160228 · Ravi et al., 2016 · Open in CIViC | civic |
| 〃 | Ewing Sarcoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID7539Clinical trial of soft tissue sarcoma patients found no responses to pazopanib + trametinib combination in Ewing sarcoma patients. Comparison was done to previously treated Ewing sarcoma that respond… (full text at CIViC) PMID 28377484 · Subbiah et al., 2017 · Open in CIViC | civic |
| CREB3L2 Fusion3 | ||||||||
| (diagnostic) | Low Grade Fibromyxoid Sarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID12061RT-PCR analysis of 59 low-grade fibromyxoid sarcomas (LGFMS) and 52 non-LGFMS tumors selected for their resemblance to LGFMS (LGFMS-like tumors), identified a FUS::CREB3L2 fusion in 45 cases, a FUS::C… (full text at CIViC) PMID 17721195 · Guillou et al., 2007 · Open in CIViC | civic |
| 〃 | Low Grade Fibromyxoid Sarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID12062In this study, an RT-PCR assay detected a FUS::CREB3L2 transcript in 14 of 16 (88%) low-grade fibromyxoid sarcoma (LGFMS) cases, whereas the fusion was not detected in any of the 123 other soft-tissue… (full text at CIViC) PMID 16931951 · Matsuyama et al., 2006 · Open in CIViC | civic |
| 〃 | Low Grade Fibromyxoid Sarcoma | Diagnostic | C | Supports Positive | ||||
| DDIT3 Fusion5 | ||||||||
| (diagnostic) | Liposarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7981Both 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. FUS-DDIT3 (TLS-CHOP) was found … (full text at CIViC) PMID 20332486 · Kubo et al., 2010 · Open in CIViC | civic |
| 〃 | Myxoid Liposarcoma | Diagnostic | C | Supports Positive | 2 | accepted | EID1785In this 1992 paper, 9 of 26 liposarcoma patients had a histopathologic diagnosis of myxoid liposarcoma. Cytogenetic analysis revealed 6 of these patients had t(12;16)(q13;p11). 2 patients had a cyt… (full text at CIViC) PMID 1568170 · Sreekantaiah et al., 1992 · Open in CIViC | civic |
| 〃 | Myxoid Liposarcoma | Diagnostic | D | Supports Positive | 4 | accepted | ||
| ERG Fusion1 | ||||||||
| (diagnostic) | Ewing Sarcoma | Diagnostic | B | Supports Positive | 3 | submitted | EID11601An 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 … (full text at CIViC) PMID 26690869 · Chen et al., 2016 · Open in CIViC | civic |
| FEV Fusion1 | ||||||||
| (diagnostic) | Ewing Sarcoma | Diagnostic | C | Supports Positive | 2 | submitted | EID11602An 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 … (full text at CIViC) PMID 26690869 · Chen et al., 2016 · Open in CIViC | civic |
| NFATC2 Fusion3 | ||||||||
| (diagnostic) | Round Cell Sarcoma with EWSR1-non-ETS Fusion | Diagnostic | B | Supports Positive | 3 | accepted | EID11605This 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 | civic |
| 〃 | Round Cell Sarcoma with EWSR1-non-ETS Fusion | Diagnostic | C | Supports Positive | 3 | accepted | EID12693This 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 | civic |
| 〃 | Round Cell Sarcoma with EWSR1-non-ETS Fusion | Diagnostic | C | Supports | ||||
| TFCP2 Fusion1 | ||||||||
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 4 | accepted | EID12326This 2018 study highlighted the diagnostic role of the FUS::TFCP2 fusion in spindle cell/sclerosing rhabdomyosarcoma (sRMS) through a single-case study of a primary spindle cell rhabdomyosarcoma of bo… (full text at CIViC) PMID 29758589 · Dashti et al., 2018 · Open in CIViC | civic |
| ALK Exon 2-18 Deletion + TFCP2 FusionTFCP2ALK2 | ||||||||
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 4 | accepted | EID12405A 31 year old male initially thought to have a mandibular osteosarcoma that was resected and treated with adjuvant radiation and cisplatin-doxorubicin. He had a mandibular recurrence with multiple pul… (full text at CIViC) PMID 39302072 · Csizmok et al., 2024 · Open in CIViC | civic |
| Alectinib | Spindle Cell Rhabdomyosarcoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID12406A 31 year old male initially thought to have a mandibular osteosarcoma that was resected and treated with adjuvant radiation and cisplatin-doxorubicin. He had a mandibular recurrence with multiple pul… (full text at CIViC) PMID 39302072 · Csizmok et al., 2024 · Open in CIViC | civic |
| NCOA2 Fusion8 | ||||||||
| (diagnostic) | Mesenchymal Chondrosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7008A 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 | civic |
| 〃 | Mesenchymal Chondrosarcoma | Diagnostic | B | Supports Positive | 4 | submitted | EID7025Meningeal 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 | civic |
| 〃 | Mesenchymal Chondrosarcoma | Diagnostic | B | Supports Positive | 4 | |||
| HIF1A OVEREXPRESSION1 | ||||||||
| (prognostic) | Sarcoma | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1034Expression of HIF1A was analyzed by IHC in 49 soft-tissue sarcomas (29 malignant fibrous histiocytomas, 12 synovial sarcomas, 4 leiomyosarcomas and 4 malignant peripheral nerve sheath tumors). High (1… (full text at CIViC) PMID 17103226 · Shintani et al., 2006 · Open in CIViC | civic |
| LPP Fusion1 | ||||||||
| (diagnostic) | Liposarcoma | Diagnostic | B | Supports Negative | 4 | rejected | EID7984Both 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 | civic |
| IDH1 Mutation1 | ||||||||
| (prognostic) | Chondrosarcoma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID7725In 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 | civic |
| IDH1 R1323 | ||||||||
| (diagnostic) | Chondrosarcoma | Diagnostic | B | Supports Positive | 3 | submitted | EID11198Approximately 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 | civic |
| 〃 | Chondrosarcoma | Diagnostic | B | Supports Positive | 2 | rejected | EID11197Approximately 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 | civic |
| Ivosidenib | Chondrosarcoma | Predictive | A | Supports Sensitivity Response | 2 | submitted | ||
| IDH1 R132Q2 | ||||||||
| (oncogenic) | Chondrosarcoma | Oncogenic | D | Supports Oncogenicity | 3 | rejected | EID11195Conditional 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 | civic |
| 〃 | Chondrosarcoma | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID11196Conditional 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 | civic |
| IDH2 Mutation1 | ||||||||
| (prognostic) | Chondrosarcoma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID7726In 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 | civic |
| IGF1R NUCLEAR EXPRESSION1 | ||||||||
| IGF1R Monoclonal Antibody | Sarcoma | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID924IGF-1R nuclear immunostaining (IHC) was observed in 9 out of 16 samples of patients with different sarcomas (osteosarcoma, ewing sarcoma, liposarcoma, synovialsarcoma, desmoplastic tumor, rhabdomyosar… (full text at CIViC) PMID 22682017 · Asmane et al., 2012 · Open in CIViC | civic |
| IL6 Overexpression1 | ||||||||
| Bazedoxifene | Rhabdomyosarcoma | Predictive | D | Supports Resistance | 2 | accepted | EID7956Treatment 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 | civic |
| JAK1 OVEREXPRESSION1 | ||||||||
| Ruxolitinib | Sarcoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7852Sequencing of an 8-year old patient diagnosed with a left tentorial-based CNS sarcoma discovered an EWSR1-ATF fusion and IL6 and JAK1 overexpression. Patient was treated with ruxolitinib based on over… (full text at CIViC) PMID 31372595 · Newton et al., 2018 · Open in CIViC | civic |
| NTRK2 Fusion1 | ||||||||
| (oncogenic) | Sarcoma | Oncogenic | C | Supports Oncogenicity | 2 | accepted | EID10362In a further investigation of non-traditional sarcoma cases, a 41-year-old man was thought to have a malignant peripheral nerve sheath tumor (MPNST) in the neck and spinal cord, but large rhabdoid/epi… (full text at CIViC) PMID 34464935 · Chen et al., 2021 · Open in CIViC | civic |
| KDR A1065T1 | ||||||||
| Sorafenib + SunitinibSubstitutes | Angiosarcoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1106COS-7 cells were transiently transfected with expression constructs encoding cDNAs for wild-type or A1065T-mutant KDR. Autophosphorylation was observed on tyrosine of mutant cells, but not wild-type c… (full text at CIViC) PMID 19723655 · Antonescu et al., 2009 · Open in CIViC | civic |
| KDR Amplification1 | ||||||||
| Pazopanib | Angiosarcoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID7139The angiosarcoma harbored amplifications of VEGFR2 (KDR) of 8 copies and VEGFR3 (FLT4) of 16 copies. The patient was initially treated with sorafenib, an inhibitor of VEGFR2, and developed progressive… (full text at CIViC) PMID 27160228 · Ravi et al., 2016 · Open in CIViC | civic |
| KDR D717V1 | ||||||||
| Sorafenib + SunitinibSubstitutes | Angiosarcoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1107COS-7 cells were transiently transfected with expression constructs encoding cDNAs for wild-type or D717V-mutant KDR. Autophosphorylation was observed on tyrosine of mutant cells, but not wild-type ce… (full text at CIViC) PMID 19723655 · Antonescu et al., 2009 · Open in CIViC | civic |
Data updated 18 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| 3 |
| accepted |
EID12060In 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 LGFMS … (full text at CIViC) PMID 24441665 · Arbajian et al., 2014 · Open in CIViC |
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EID12430This study provided in vivo evidence showing the adipocyte-specific oncogenicity of the FUS::CHOP fusion transcript in liposarcoma, using a transgenic mouse model with ubiquitous FUS::CHOP expression … (full text at CIViC) PMID 10828883 · Pérez-Losada et al., 2000 · Open in CIViC |
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| 〃 | Myxoid Liposarcoma | Diagnostic | D | Supports Positive | 2 | accepted | EID12431This preclinical study examined the effect of the FUS::DDIT3 fusion protein on the oncogenic role of IGF-1R/PI3K/Akt signaling in myxoid liposarcoma (MLS) and explored the therapeutic potential of IGF… (full text at CIViC) PMID 28637688 · Trautmann et al., 2017 · Open in CIViC | civic |
| NVP-AEW541 | Myxoid Liposarcoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5920A comprehensive subset of myxoid liposarcoma specimens showed elevated expression and phosphorylation levels of various IGF-IR/PI3K/Akt signaling effectors. In HT1080 fibrosarcoma cells, overexpressio… (full text at CIViC) PMID 28637688 · Trautmann et al., 2017 · Open in CIViC | civic |
| 2 |
| accepted |
EID12692This case series presented 7 NFATC2-rearranged sarcomas, including 4 EWSR1::NFATC2 and 3 FUS::NFATC2 cases, and developed an ACAN-encoding aggrecan immunohistochemistry as a diagnostic tool for these … (full text at CIViC) PMID 32327700 · Perret et al., 2020 · Open in CIViC |
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EID7026FISH was used to detect HEY1-NCOA2 fusions in 10 paraffin embedded samples from patients diagnosed with mesenchymal chondrosarcoma. HEY1 and NCOA2 are located on same chromosome but generate distinct … (full text at CIViC) PMID 23252872 · Nakayama et al., 2012 · Open in CIViC |
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| 〃 | Mesenchymal Chondrosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7124FISH 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 | civic |
| 〃 | Mesenchymal Chondrosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7125Meningeal 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 | civic |
| 〃 | Mesenchymal Chondrosarcoma | Diagnostic | B | Supports Positive | 2 | accepted | EID70176 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 | civic |
| Imatinib | Mesenchymal Chondrosarcoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID10798In 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 | civic |
| Trabectedin | Mesenchymal Chondrosarcoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID12585In 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 | civic |
EID11194In a phase 1 study (NCT02073994), 21 patients with advanced IDH-mutant chondrosarcoma received the IDH1-mutant specific inhibitor ivosidenib. Plasma levels of the 2-HG oncometabolite decreased to nor… (full text at CIViC) PMID 32208957 · Tap et al., 2020 · Open in CIViC |
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