Cancer Family
Malignant Musculoskeletal Neoplasm
CI-CAN-00000242Explore in graph →
- NCIt
- C166357
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Cancer Family
CI-CAN-00000242Explore in graph →
Variants & evidence
56 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 |
|---|---|---|---|---|---|---|---|---|
| CASP8 Overexpression1 | ||||||||
| Conatumumab | Bone Ewing SarcomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID831In-vitro and in-vivo sensitivity to DR5 antibody conatumumab was correlated with expression of caspase-8. PMID 26291055 · Kang et al., 2015 · Open in CIViC | civic |
| CDK4 Overexpression1 | ||||||||
| Palbociclib + RibociclibSubstitutes | Alveolar Rhabdomyosarcoma | Predictive | D | Supports Resistance | 3 | submitted | EID7138Analysis of the antiproliferative effects of pharmacologic CDK4/6 inhibitors provided initial evidence of this notion, as lowest CDK4- expressing Rh28 cells showed the highest sensitivity to both LEE0… (full text at CIViC) PMID 25810375 · Olanich et al., 2015 · Open in CIViC | civic |
| FLI1 Fusion3 | ||||||||
| (diagnostic) | Bone Ewing SarcomaALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID1752A 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 | civic |
| 〃 | Bone Ewing SarcomaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID1754An evaluation of alternative strategies for detection of EWS-FLI (FISH break apart, FISH fusion, and RT-PCR). Of the 22 informative EWS/PNETs, 20 cases (91%) were positive by FISH break apart, FISH f… (full text at CIViC) PMID 16258512 · Bridge et al., 2006 · Open in CIViC | civic |
| 〃 | Bone Ewing SarcomaALIAS | Diagnostic | ||||||
| TFCP2 Fusion3 | ||||||||
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 4 | accepted | EID12825This 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 | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 4 | accepted | EID12827This 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 | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 3 | |||
| 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 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 | |||
| PDGFRA Overexpression1 | ||||||||
| Sunitinib | Rhabdomyosarcoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7988A high-throughput screen of 637 cancer cell lines revealed 2 to be sensitive to the multiple tyrosine kinase inhibitor, sunitinib. The most highly sensitive line was A-204, a rhabdomyosarcoma cell lin… (full text at CIViC) PMID 19366796 · McDermott et al., 2009 · Open in CIViC | civic |
| BRCA2 Deletion + PTEN Deletion + TP53 DeletionBRCA2TP53PTEN1 | ||||||||
| Olaparib | Uterine Corpus LeiomyosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11319In this case study, the patient, a 54-year-old African woman, presented with pelvic pain in May 2019 and was found to have a solid heterogeneous pelvic mass with areas of fluid and hemorrhagic density… (full text at CIViC) PMID 33970096 · Pan et al., 2021 · Open in CIViC | civic |
| PTPRD V253I1 | ||||||||
| Cixutumumab + TeprotumumabSubstitutes | Bone Ewing SarcomaALIAS | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1856Report of complete response to IGF1-R antibody, with or without mTOR inhibitor tensirolimus in 2/3 Ewing Sarcoma patients with germline PTPRD mutations (V253I and W775*, R995C). The third patient had … (full text at CIViC) PMID 23800680 · Jiang et al., 2013 · Open in CIViC | civic |
| STAG2 MUTATION1 | ||||||||
| (prognostic) | Bone Ewing SarcomaALIAS | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1697In a study of 96 Ewing sarcoma tumors, 15% showed heterogenous loss of STAG2 expression in IHC analysis. Of those with STAG2 expression loss, 88% presented with metastatic disease compared to only 27… (full text at CIViC) PMID 25186949 · Crompton et al., 2014 · Open in CIViC | civic |
| TP53 ALTERATION1 | ||||||||
| (prognostic) | Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID9594This study evaluated 641 cases of rhabdomyosarcoma (RMS) that were enrolled in the Children’s Oncology Group (COG) trials from 1998 to 2017 and the UK malignant mesenchymal tumor and RMS2005 trails fr… (full text at CIViC) PMID 34166060 · Shern et al., 2021 · Open in CIViC | civic |
| VGLL2 Fusion4 | ||||||||
| (prognostic) | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID11568In this 2017 study, the authors analyzed molecular features of 26 pediatric spindle cell and sclerosing rhabdomyosarcoma (SRMS) cases. The cohort included 11 congenital/infantile patients (age 0–1 yea… (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC | civic |
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID11565In this 2015 study, the authors analyzed 26 pediatric spindle cell and sclerosing rhabdomyosarcoma (SRMS) cases, including 11 congenital/infantile cases, using a combination of RNA sequencing, FISH, t… (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 4 | |||
| NCOA2 Fusion1 | ||||||||
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID12699In this 2025 retrospective study, 14 spindle cell rhabdomyosarcoma (SCRMS) cases previously identified as possessing ZFP64::NCOA2 or ZFP64::NCOA3 fusions were pulled from clinical archives to assess c… (full text at CIViC) PMID 41075874 · Dehner et al., 2025 · Open in CIViC | civic |
Data updated 10 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.
| B |
| Supports Positive |
| 2 |
| accepted |
EID1753The authors propose RT-PCR as a diagnostic test for Ewing sarcoma using FFPE materials. Starting with 40 cases, intact RNA could be isolated from 6, and of these the EWSR1-FLI1 fusion was detected in… (full text at CIViC) PMID 9741544 · Park et al., 1998 · Open in CIViC |
| civic |
| accepted |
EID12826This study presented clinicopathological and molecular features of 11 cases of head and neck rhabdomyosarcomas (HNRMSs). The median age of the cohort was 29 years, ranging 16-74 years with no sex bias… (full text at CIViC) PMID 33382123 · Xu et al., 2021 · Open in CIViC |
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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 |
| accepted |
EID12870In this 2020 study, the authors analyzed clinical, histopathologic, and RNA sequencing data from 37 infants with rhabdomyosarcoma (RMS) diagnosed before six months of age. The median age of the cohort… (full text at CIViC) PMID 32087612 · Butel et al., 2020 · Open in CIViC |
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| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 3 | accepted | EID12871In this 2021 study, the authors analyzed clinical, pathologic, molecular, and radiologic features of 4 pediatric patients with VGLL2-rearranged infantile sclerosing and spindle-cell rhabdomyosarcoma (… (full text at CIViC) PMID 33949344 · Cyrta et al., 2021 · Open in CIViC | civic |