Cancer Family
Connective and Soft Tissue Neoplasm
CI-CAN-00000010Explore in graph →
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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 |
|---|---|---|---|---|---|---|---|---|
| KIT V654A2 | ||||||||
| Regorafenib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 4 | submitted | EID4148In an in vitro study, Ba/F3 cell lines expressing different KIT primary mutations (known to confer sensitivity to regorafenib) and KIT V654A secondary mutation, KIT V654A was associated with decreased… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID304In GIST tumor cells and patients harboring KIT V654A mutation, SU11248 is effective for those that are refractory to imatinib. PMID 16638875 · Prenen et al., 2006 · Open in CIViC | civic |
| KIT W557_E561del3 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2437Molecular 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 | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4090In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | ||
| KIT W557G2 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2428Molecular 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 | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4078In 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 | civic |
| KIT W557_K558del6 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2434Molecular 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 | civic |
| Imatinib + PonatinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID4084In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activating mutation demonstrated sensitivity to imatinib (IC50: 27nmol/L) and ponatinib (IC50: 3nmol/L) tre… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports | ||||
| KIT D820G + KIT W557_K558del2 | ||||||||
| Ponatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7412Ponatinib possesses potent activity against D820G KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Regorafenib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 2 | submitted | EID4165In an in vitro study, a Ba/F3 cell line expressing KIT W557_K558del primary mutation (known to confer sensitivity to regorafenib) and KIT D820G secondary mutation, KIT D820G was associated with decrea… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT N822K + KIT W557_K558del2 | ||||||||
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 3 | accepted | EID4169In a set of preclinical experiments associated with gastrointestinal stromal tumor, the effects of the tyrosine kinase inhibitor regorafenib on Ba/F3 cell lines harboring the primary regorafenib-sensi… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Imatinib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 4 | accepted | EID7414Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3 cell lines with primary TKI-sensitizing del 557-558 mutation, which induced IL-3 independent growth… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT W557R1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2426Molecular 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 | civic |
| KIT W557T1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2431Molecular 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 | civic |
| KIT W557_V559insC2 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4460In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4461In 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 | civic |
| KIT Wildtype1 | ||||||||
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID4144This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal stromal tumors (GIS… (full text at CIViC) PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC | civic |
| KIT Y503_F504insAY1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | — | submitted | EID2394Patients with exon 9 mutations treated with a higher dose of imatinib (800mg vs. 400 mg daily) experienced improved progression-free survival compared to those treated with the standard dose (HR:0.392… (full text at CIViC) PMID 16624552 · Debiec-Rychter et al., 2006 · Open in CIViC | civic |
| KIT Y553D1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2407Molecular 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 | civic |
| KIT Y553_K558DEL3 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2410Molecular 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 | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4067In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | ||
| KIT Y553_W557DELYEVQW1 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Sensitivity Response | — | submitted | EID4577In a retrospective study, a Chinese gastrointestinal stromal tumor patient harboring KIT Y553_W557delYEVQW deletion mutation (n=1/2) was associated with improved response to sunitinib treatment after … (full text at CIViC) PMID 23456621 · Gao et al., 2013 · Open in CIViC | civic |
| KIT Y570_L576DEL2 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4586In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4587In 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 | civic |
| KIT Y823D1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 3 | accepted | EID2919147 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 | civic |
| KRAS K117N1 | ||||||||
| Vemurafenib | Clear Cell Sarcoma of Soft TissueALIAS | Predictive | D | Supports Resistance | — | submitted | EID4425In an in vitro study, A375 cell lines expressing BRAF V600E (a known sensitizing mutation to vemurafenib) and KRAS K117N co-mutations demonstrated reduced sensitivity to vemurafenib treatment, compare… (full text at CIViC) PMID 22205714 · Su et al., 2012 · Open in CIViC | civic |
| LEPR UNDEREXPRESSION1 | ||||||||
| (prognostic) | Meningioma | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1054144 cases (discovery set: N=62 discovery; Independent validation set: N = 82) of meningiomas were analyzed for transcriptional features defining aggressive clinical course (recurrent, malignantly prog… (full text at CIViC) PMID 26894859 · Schmidt et al., 2016 · Open in CIViC | civic |
| LGR5 delta51 | ||||||||
| (prognostic) | Sarcoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9622In a clinical trial including 77 patients, low expression of delta5 deletion is significantly correlated with decreased OS (p = 0.026) by multivariate analysis and with decreased RFS (p = 0.043). More… (full text at CIViC) PMID 21978106 · Rot et al., 2011 · Open in CIViC | civic |
| NTRK1 Fusion9 | ||||||||
| (diagnostic) | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Diagnostic | C | Supports Positive | 4 | accepted | EID6391A 14-month-old boy presented with a slow-growing, asymptomatic back plaque, which was biopsied and found to have S100 positivity, sparse CD34 staining, and no significant mitotic activity, nuclear ple… (full text at CIViC) PMID 29892662 · Bartenstein et al., 2018 · Open in CIViC | civic |
| 〃 | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Diagnostic | C | Supports Positive | 3 | accepted | EID11576A 31-year-old female presented with a pigmented nodule on her scalp that enlarged in size over a 2-year period. Biopsy demonstrated a fascicular proliferation of bland spindle cells within the dermis … (full text at CIViC) PMID 32519338 · Panse et al., 2021 · Open in CIViC | civic |
| 〃 | NTRK-Rearranged Spindle Cell Neoplasm | |||||||
| NTRK1 Fusion + S100B ExpressionNTRK1S100B1 | ||||||||
| (diagnostic) | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID12006Among pediatric fibroblastic and myofibroblastic proliferating superficial lesions, lipofibromatosis (LPF), composed of an admixture of adipose tissue and fibroblastic elements, has been variously cla… (full text at CIViC) PMID 27259011 · Agaram et al., 2016 · Open in CIViC | civic |
| LPP Fusion + HMGA2 FusionHMGA2LPP1 | ||||||||
| (diagnostic) | Liposarcoma | Diagnostic | B | Supports Negative | 4 | accepted | EID7983Both 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. LPP-HMGA2 or HMGA2-LPP fusions w… (full text at CIViC) PMID 20332486 · Kubo et al., 2010 · Open in CIViC | civic |
| HLA-A *02:01P + HLA-A *02:02P + HLA-A *02:03P + HLA-A *02:06P + MAGEA4 ExpressionHLA-AMAGEA41 | ||||||||
| Afamitresgene Autoleucel | Synovial Sarcoma | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID12138In cohort 1 of this non-randomised, phase 2 trial (SPEARHEAD-1), 52 patients, aged, 16-75, with synovial sarcoma (n = 44) and myxoid round cell liposarcoma (n=8) harboring HLA-A*02 and MAGE-A4 were tr… (full text at CIViC) PMID 38554725 · D'Angelo et al., 2024 · Open in CIViC | civic |
| GLI1 Fusion4 | ||||||||
| (diagnostic) | Gastroblastoma | Diagnostic | C | Supports Positive | 4 | accepted | EID12080This study identified a recurrent MALAT1::GLI1 fusion in 4 of 4 (100%) gastroblastomas from patients ranging in age from 9 to 56 years old. Initially, the fusion was identified using transcriptome seq… (full text at CIViC) PMID 37165307 · Hamada et al., 2023 · Open in CIViC | civic |
| 〃 | Gastroblastoma | Diagnostic | C | Supports Positive | 4 | accepted | EID12753In this 2017 study the authors included four cases of gastroblastoma with control cases of histologic mimics. Gastroblastoma patients were aged 9, 27, 28 and 56 years. RNASeq identified a MALAT1::GLI1… (full text at CIViC) PMID 28731043 · Graham et al., 2017 · Open in CIViC | civic |
| 〃 | Gastroblastoma | Diagnostic | C | Supports Positive | 2 | accepted | ||
Data updated 8 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.
EID4091In 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 |
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| 3 |
| accepted |
EID4082Patients 11, 69, and 73 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… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC |
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| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4085In 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 | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | — | submitted | EID4083In an in vitro study, patient derived tumor cells expressing KIT W557_K558delWK in-frame deletion mutation (endogenous expression) demonstrated sensitivity to sunitinib treatment. Sensitivity was dete… (full text at CIViC) PMID 16638875 · Prenen et al., 2006 · Open in CIViC | civic |
| Regorafenib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID4087In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activating mutation demonstrated sensitivity to sunitinib (IC50: 7 +/- 2nmol/L) and regorafenib (IC50: 30 … (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
EID4068In 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 |
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| Diagnostic |
| C |
| Supports Positive |
| 3 |
| accepted |
EID11577A 21-year-old man demonstrated intermittent abdominal pain, and a CT scan revealed an abnormal paraspinal lesion. Biopsy revealed a spindle cell mesenchymal tumor with monotonous, bland spindle cells … (full text at CIViC) PMID 32782782 · Dupuis et al., 2020 · Open in CIViC |
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| 〃 | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Diagnostic | C | Supports Positive | 3 | accepted | EID11650A 3-year-old girl presented with spots on her right buttock that evolved into lumps. Magnetic resonance imaging showed diffuse subcutaneous tissue thickening without significant involvement of underly… (full text at CIViC) PMID 32299759 · Malik et al., 2020 · Open in CIViC | civic |
| Crizotinib | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID8878A mass found at birth in a patient’s left arm became enlarged at age 2 and was resected and characterized as a high-grade spindle cell sarcoma. FISH and RT-PCR did not detect any common sarcoma transl… (full text at CIViC) PMID 30709876 · Bender et al., 2019 · Open in CIViC | civic |
| Entrectinib | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID11578A 21-year-old man demonstrated intermittent abdominal pain, and a CT scan revealed an abnormal paraspinal lesion. IHC was positive for CD34, S-100, and pan-TRK and negative for Sox10. Anchored multip… (full text at CIViC) PMID 32782782 · Dupuis et al., 2020 · Open in CIViC | civic |
| Larotrectinib | Sarcoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID6100One Patient with soft tissue sarcoma and a NTRK1-LMNA fusion had a partial response with larotrectinib. Treatment was done within a multicentre, open-label, phase 1/2 study and enrolled infants, child… (full text at CIViC) PMID 29606586 · Laetsch et al., 2018 · Open in CIViC | civic |
| 〃 | Sarcoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID2955LOXO-101 is an orally administered inhibitor of the TRK kinase and is highly selective only for the TRK family of receptors. The tumor of a 41-year-old woman with soft-tissue sarcoma metastatic to the… (full text at CIViC) PMID 26216294 · Doebele et al., 2015 · Open in CIViC | civic |
| TRK Inhibitor | Spindle Cell Sarcoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID8902A 40-year-old patient with a left calf mass revealed by biopsy to be a low grade myxoid spindle cell carcinoma underwent surgery and radiotherapy. Over a 5-year period, the patient experienced 3 lung … (full text at CIViC) PMID 32050835 · So et al., 2020 · Open in CIViC | civic |
EID12754In this 2023 case study the authors investigate a tumour with biphasic morphology composed of epithelial and spindle cell components, diagnosed in a 29-year-old woman. RT-PCR analysis revealed that th… (full text at CIViC) PMID 36803776 · Sugimoto et al., 2023 · Open in CIViC |
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| 〃 | Gastroblastoma | Diagnostic | C | Supports Positive | 2 | accepted | EID12755In this 2019 case study the authors investigate a gastric antral tumor with morphological, immunophenotypic and genotypic features consistent with gastroblastoma in a 79-year-old male. Molecular analy… (full text at CIViC) PMID 31287169 · Castri et al., 2019 · Open in CIViC | civic |