Cancer Family
Connective and Soft Tissue Neoplasm
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Cancer Family
CI-CAN-00000010Explore in graph →
Variants & evidence
603 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 |
|---|---|---|---|---|---|---|---|---|
| MDM2 Amplification1 | ||||||||
| HDM2 Inhibitor MK-8242 | Liposarcoma | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID5518In 41 patients with postbaseline scans, three patients with liposarcoma achieved a partial response (at 250, 400, and 500 mg), 31 showed stable disease, and eight had progressive disease. In total, 27… (full text at CIViC) PMID 28240971 · Wagner et al., 2017 · Open in CIViC | civic |
| ALK Overexpression + MET OverexpressionMETALK1 | ||||||||
| Crizotinib | Alveolar Rhabdomyosarcoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID7136Since significant ALK and MET expression was only detected in ARMS samples, the effect of crizotinib, an ATP competitive, MET and ALK inhibitor, was evaluated on the growth of RH4 and RH30 ARMS cell l… (full text at CIViC) PMID 26445453 · Megiorni et al., 2015 · Open in CIViC | civic |
| ATF1 Fusion + MET OverexpressionMETATF11 | ||||||||
| Crizotinib | Clear Cell Sarcoma of Soft TissueALIAS | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID1145528 patients were selected from a cohort of 43 patients with clear-cell sarcoma (CCSA) for this phase II trial. 26 of such patients presented with EWSR1 rearrangement and MET overexpression (MET+ cohor… (full text at CIViC) PMID 28950372 · Schöffski et al., 2017 · Open in CIViC | civic |
| MYOD1 L122R12 | ||||||||
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID8193This study evaluated forty-nine cases of rhabdomyosarcoma (RMS) (17 cases of alveolar RMS, 10 of embryonal RMS, 21 of spindle cell and sclerosing RMS, and a single case of a pleomorphic RMS) for MYOD1… (full text at CIViC) PMID 27562493 · Rekhi et al., 2016 · Open in CIViC | civic |
| (prognostic) | Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID9532This study evaluated 641 cases of rhabdomyosarcoma (RMS), enrolled on Children’s Oncology Group trials (1998-2017) and UK malignant mesenchymal tumor and RMS2005 trials (1995-2016), for mutations in 3… (full text at CIViC) PMID 34166060 · Shern et al., 2021 · Open in CIViC | civic |
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | ||
| MYOD1 MYOD1 L122R1 | ||||||||
| (prognostic) | Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | rejected | EID9531This study evaluated 641 cases of rhabdomyosarcoma (RMS), enrolled on Children’s Oncology Group trials (1998-2017) and UK malignant mesenchymal tumor and RMS2005 trials (1995-2016), for mutations in 3… (full text at CIViC) PMID 34166060 · Shern et al., 2021 · Open in CIViC | civic |
| NF1 Loss2 | ||||||||
| Bevacizumab + EverolimusCombination | Malignant Peripheral Nerve Sheath Tumor | Predictive | B | Does Not Support Sensitivity Response | 2 | submitted | EID7727Sporadic and Neurofibromatosis Type 1 (NF1) related refractory Malignant Peripheral Nerve Sheath Tumors (MPNST) showed no significant clinical benefit when treated with Everolimus in Combination with … (full text at CIViC) PMID 31427883 · Widemann et al., 2019 · Open in CIViC | civic |
| JQ1 Compound | Malignant Peripheral Nerve Sheath Tumor | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1743BRD4 inhibition supressess growth and tumorigenesis of NF1-/-, TP53-/- MPNST cells in mouse xenografts PMID 24373973 · Patel et al., 2014 · Open in CIViC | civic |
| NTRK3 F617L1 | ||||||||
| Larotrectinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 2 | accepted | EID9592A 58-year-old male with NTRK-fusion positive gastrointestinal stromal tumour (GIST) demonstrated initial response to Larotrectinib but progressed after developing a gatekeeper mutation (TRKC F617L). PMID 30624546 · Hong et al., 2019 · Open in CIViC | civic |
| NTRK3 R248C1 | ||||||||
| (diagnostic) | Infantile FibrosarcomaALIAS | Diagnostic | A | Supports Positive | 4 | rejected | EID8331This 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 | civic |
| PARP1 OVEREXPRESSION2 | ||||||||
| Olaparib | Malignant Peripheral Nerve Sheath Tumor | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7016The majority of MPNST samples were positive for PARP staining. Overall, moderate to high expression of PARP1 and PARP2 was observed (Table 1)....Overall, treatment continued for 60 d at which point 5 … (full text at CIViC) PMID 26650448 · Kivlin et al., 2016 · Open in CIViC | civic |
| Olaparib + TrabectedinCombination | Sarcoma | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7868Study of combination of trabectedin + olaparib in sarcoma cell lines and xenograft models. Initial results found combination therapy significantly reduced colony growth (p<0.001) in high-PARP1-expres… (full text at CIViC) PMID 28454547 · Pignochino et al., 2017 · Open in CIViC | civic |
| FOXO1 Fusion5 | ||||||||
| (diagnostic) | Alveolar Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7009In a cohort of 171 pediatric rhabdomyosarcoma patients, the PAX3::FOXO1 fusion transcript was detected in 55% of patients with centrally reviewed ARMS. Critically, this fusion, along with the related … (full text at CIViC) PMID 12039929 · Sorensen et al., 2002 · Open in CIViC | civic |
| 〃 | Alveolar Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID11684In this study, a total of 147 rhabdomyosarcomas/normal pairs were analyzed, 44 by whole genome sequencing and 103 tumors by whole exome sequencing. 50 cases classified as alveolar rhabdomyosarcoma his… (full text at CIViC) PMID 24436047 · Shern et al., 2014 · Open in CIViC | civic |
| 〃 | Alveolar Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | |||
| FOXO1 Fusion4 | ||||||||
| (diagnostic) | Alveolar Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7010In a cohort of 171 uniformly treated pediatric rhabdomyosarcoma (RMS) patients, 78 patients had alveolar rhabdomyosarcoma (ARMS). Of ARMS patients, 55% harbored a PAX3-FOXO1 fusion, 22% harbored a PAX… (full text at CIViC) PMID 12039929 · Sorensen et al., 2002 · Open in CIViC | civic |
| 〃 | Alveolar Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID11685In this study, a total of 147 rhabdomyosarcomas/normal pairs were analyzed, 44 by whole genome sequencing and 103 tumors by whole exome sequencing. 50 cases classified as alveolar rhabdomyosarcoma his… (full text at CIViC) PMID 24436047 · Shern et al., 2014 · Open in CIViC | civic |
| 〃 | Alveolar Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | |||
| NTRK1 Fusion2 | ||||||||
| Larotrectinib | Sarcoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID6102One Patient with soft tissue sarcoma and a NTRK1-PDE4DIP fusion was treated with larotrectinib and exhibited a partial response. Treatment was done within a multicentre, open-label, phase 1/2 study an… (full text at CIViC) PMID 29606586 · Laetsch et al., 2018 · Open in CIViC | civic |
| 〃 | Sarcoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID7420In a pediatric phase 1 trial (NCT02637687), a boy aged 15 months with soft tissue sarcoma of the right upper thigh harbored the PDE4DIP-NTRK1 fusion. After resection and the failure of initial chemoth… (full text at CIViC) PMID 30204247 · DuBois et al., 2018 · Open in CIViC | civic |
| PDGFB Rearrangement3 | ||||||||
| Imatinib Mesylate | Dermatofibrosarcoma Protuberans | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID10312An 18-month-old female patient presented with a history of an enlarging, subcutaneous mass in her right lower extremity since birth. A biopsy was performed and the findings were typical of Dermatofibr… (full text at CIViC) PMID 15503291 · Price et al., 2005 · Open in CIViC | civic |
| 〃 | Dermatofibrosarcoma Protuberans | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID10330In this retrospective study, two patients with locally advanced Dermatofibrosarcoma Protuberans (DFSP) and two patients with recurrent DFSP received imatinib treatment prior to undergoing Mohs surgery… (full text at CIViC) PMID 19620561 · Han et al., 2009 · Open in CIViC | civic |
| Sorafenib Tosylate | Dermatofibrosarcoma Protuberans | Predictive | C | Supports | ||||
| PDGFRA D842I1 | ||||||||
| Crenolanib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID43In CHO cells with PDGFRA D842I mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib. PMID 22745105 · Heinrich et al., 2012 · Open in CIViC | civic |
| PDGFRA D842_I843delinsVM1 | ||||||||
| Crenolanib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID47In CHO cells with PDGFRA DI842-843VM mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib. PMID 22745105 · Heinrich et al., 2012 · Open in CIViC | civic |
| PDGFRA D842_M844del1 | ||||||||
| Dasatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID4511In an in vitro study, Ba/F3 cells expressing PDGFRA D842_M844delDIM mutation were associated withsensitivity to dasatinib treatment.(IC50: 10nM). Sensitivity was determined by assessing cell prolifera… (full text at CIViC) PMID 18794084 · Dewaele et al., 2008 · Open in CIViC | civic |
| PDGFRA D842V11 | ||||||||
| (diagnostic) | Gastrointestinal Stromal Tumor | Diagnostic | B | Supports Negative | 3 | accepted | EID2GIST tumors harboring PDGFRA D842V mutation are more likely to be benign than malignant. PMID 15146165 · Lasota et al., 2004 · Open in CIViC | civic |
| Avapritinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID7479In a phase 2 trial, patients with gastrointestinal stromal tumor (GIST) harboring with PDGFRA D842V or other exon 18 mutation were treated with Avapritinib which have broad activity against oncogenic … (full text at CIViC) | civic |
| Crenolanib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID44In CHO cells with PDGFRA D842V mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib. | |
Data updated 7 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.
EID11582This study assessed MYOD1 exon 1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcoma. 5 sclerosing (2 pediatric and 3 adults) and 11 spindle cell rhabdomyosarcomas (3 pediatr… (full text at CIViC) PMID 24824843 · Agaram et al., 2014 · Open in CIViC |
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| (prognostic) | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID11583This study assessed MYOD1 exon 1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcoma. 5 sclerosing (2 pediatric and 3 adults) and 11 spindle cell rhabdomyosarcomas (3 pediatr… (full text at CIViC) PMID 24824843 · Agaram et al., 2014 · Open in CIViC | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID11584This study assessed the clinicopathologic and prognostic characteristics of MYOD1-mutant rhabdomyosarcoma in a total of 30 cases of which 15 are children. Cases were analyzed for the known MYOD1 exon … (full text at CIViC) PMID 30181563 · Agaram et al., 2019 · Open in CIViC | civic |
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID11585This study assessed the clinicopathologic and molecular features of 13 spindle cell (SRMS) and 7 spindle cell/sclerosing rhabdomyosarcomas (ScRMS) arising in the head and neck region. Age ranged from … (full text at CIViC) PMID 31949721 · Wang et al., 2018 · Open in CIViC | civic |
| (prognostic) | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID11586This study assessed the clinicopathologic and molecular features of 13 spindle cell (SRMS) and 7 spindle cell/sclerosing rhabdomyosarcomas (ScRMS) arising in the head and neck region. Age ranged from … (full text at CIViC) PMID 31949721 · Wang et al., 2018 · Open in CIViC | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID11587This study looked at 26 spindle cell and sclerosing rhabdomyosarcomas. 11 were congenital/infantile type diagnosed at birth or within one year of age, 10 of which harbored recurrent fusions involving … (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC | civic |
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID11588In this study, FISH, targeted DNA, and whole transcriptome sequencing were used to define a better molecular classification of sclerosing and spindle cell rhabdomyosarcoma. 11 of 26 were congenital/i… (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC | civic |
| (prognostic) | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID8313This study examined 17 cases of spindle cell/sclerosing rhabdomyosarcoma (SC/SRMS) for the presence of MYOD1 variants. 12 cases harbored a MYOD-1 mutation, of which 8 cases were homozygous for p.L122R… (full text at CIViC) PMID 30604891 · Tsai et al., 2019 · Open in CIViC | civic |
| (diagnostic) | Spindle Cell/Sclerosing Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 3 | rejected | EID11564This study assessed the clinicopathologic and molecular features of 13 spindle cell (SRMS) and 7 spindle cell/sclerosing rhabdomyosarcomas (ScRMS) arising in the head and neck region. Age ranged from … (full text at CIViC) PMID 31949721 · Wang et al., 2018 · Open in CIViC | civic |
| (prognostic) | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID8194This study evaluated forty-nine cases of rhabdomyosarcoma (RMS) (17 cases of alveolar RMS, 10 of embryonal RMS, 21 of spindle cell and sclerosing RMS, and a single case of a pleomorphic RMS) for MYOD1… (full text at CIViC) PMID 27562493 · Rekhi et al., 2016 · Open in CIViC | civic |
| accepted |
EID11687This study summarizes the evolution of the classification of rhabdomyosarcomas which now includes embryonal, alveolar, spindle cell/sclerosing and pleomorphic rhabdomyosarcoma. Genetically, alveolar r… (full text at CIViC) PMID 34958505 · Agaram, 2022 · Open in CIViC |
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| (prognostic) | Alveolar Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID8885In a cohort of 171 uniformly treated pediatric rhabdomyosarcoma (RMS) patients, 78 patients had alveolar rhabdomyosarcoma (ARMS). Of ARMS patients, 55% harbored a PAX3-FOXO1 fusion, 22% harbored a PAX… (full text at CIViC) PMID 12039929 · Sorensen et al., 2002 · Open in CIViC | civic |
| BET Inhibitor | Alveolar Rhabdomyosarcoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID70115 PAX3-FOXO1 fusion positive rhabdomyosarcoma cell lines exhibited greater sensitivity to BET bromodomain inhibitors than fusion negative lines and introduction of the PAX3-FOXO1 fusion to fibroblasts… (full text at CIViC) PMID 28446439 · Gryder et al., 2017 · Open in CIViC | civic |
| accepted |
EID11686This study summarizes the evolution of the classification of rhabdomyosarcomas which now includes embryonal, alveolar, spindle cell/sclerosing and pleomorphic rhabdomyosarcoma. Genetically, alveolar r… (full text at CIViC) PMID 34958505 · Agaram, 2022 · Open in CIViC |
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| (prognostic) | Alveolar Rhabdomyosarcoma | Prognostic | B | Supports Better Outcome | 3 | accepted | EID8886In a cohort of 171 uniformly treated pediatric rhabdomyosarcoma (RMS) patients, 78 patients had alveolar rhabdomyosarcoma (ARMS). Of ARMS patients, 55% harbored a PAX3-FOXO1 fusion, 22% harbored a PAX… (full text at CIViC) PMID 12039929 · Sorensen et al., 2002 · Open in CIViC | civic |
| 1 |
| submitted |
EID10333In this case report, a 36-year-old male is presented with an advanced and recurrent Dermatofibrosarcoma Protuberans (DFSP) lesion. Following the third relapse and a round of radiotherapy, he was put o… (full text at CIViC) PMID 23557478 · Kamar et al., 2013 · Open in CIViC |
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PMID 22745105 · Heinrich et al., 2012 · Open in CIViC
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| Dasatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID4057In an in vitro study, gastrointestinal tumor (GIST) cells (endogenous expression) and Ba/F3 murine cells (overexpression) with the PDGFRA D842V mutation were associated with sensitivity to dasatinib t… (full text at CIViC) PMID 18794084 · Dewaele et al., 2008 · Open in CIViC | civic |
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | A | Does Not Support Sensitivity Response | 3 | submitted | EID11545In this retrospective survey of clinical studies in sarcoma and/or GISTs in Europe, 58 patients were included with advanced PDGFRA-mutant GISTs treated with imatinib for advanced disease. The primary … (full text at CIViC) PMID 22718859 · Cassier et al., 2012 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | B | Supports Resistance | 4 | accepted | EID15GIST cancer with D842V mutation is resistant to imatinib. PMID 15928335 · Corless et al., 2005 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | B | Supports Resistance | 4 | accepted | EID16While cancer with PDGFRA V561D mutation is known to be sensitive to Imatinib, double mutation of V561D and D842V mutants are resistant to imatinib. PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | B | Supports Resistance | 4 | accepted | EID738823 patients with GIST under therapy with imatinib were genotyped for this study. 18 patients (2%) with PDGFRA mutations were identified. In D842V-mutant GISTs, PFS (median 3.8 months) and OS (median … (full text at CIViC) PMID 26130666 · Yoo et al., 2016 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 2 | accepted | EID2478This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between kinase (KIT and PDGFRA) genotype and treatment outcome for patients enr… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 3 | accepted | EID651When 293T cells stably transduced with PDGFRA A842V were treated with imatinib, tyrosine phosphorylation was maintained at 1 and 10umol/L concentrations that inhibited phosphorylation of wildtype PDGF… (full text at CIViC) PMID 12949711 · Hirota et al., 2003 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Resistance | 3 | submitted | EID4058In a prospective study of 137 gastrointestinal stromal tumor patients who failed imatinib treatment, patients with PDGFRA mutation (12/89; 11/12 tumors genotyped as D842V) treated with sunitinib were… (full text at CIViC) PMID 22439647 · Rutkowski et al., 2012 · Open in CIViC | civic |