Subtype
Malignant Urinary System Neoplasm
CI-CAN-00001187Explore in graph →
- NCIt
- C9297
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Subtype
CI-CAN-00001187Explore in graph →
Variants & evidence
335 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 |
|---|---|---|---|---|---|---|---|---|
| Deletion1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12836Microarray-based comparative genomic hybridization (aCGH) analysis was carried out on 58 Wilms’ tumor samples. 38 tumors were untreated primary and 20 were recurrent. An increase in copy number change… (full text at CIViC) PMID 17103382 · Natrajan et al., 2007 · Open in CIViC | civic |
| Amplification1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID1283777 tumors from Wilms Tumor patients were tested with Illumina BeadChip arrays and genomic profiles were tested for association with relapse and other clinicopathological variables. Copy number gain at… (full text at CIViC) PMID 22407497 · Perotti et al., 2012 · Open in CIViC | civic |
| Deletion1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12834Anaplastic histology (AH) in Wilm's Tumor is characterized by abnormal mitoses, and associated with poor prognosis in comparison to favorable histology (FH). Array CGH was used on 53 AH samples, and a… (full text at CIViC) PMID 21882282 · Williams et al., 2011 · Open in CIViC | civic |
| ARID1A Underexpression1 | ||||||||
| (prognostic) | Clear Cell Renal Cell Carcinoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID5676This study included 290 patients with Clear Cell Renal Cell Carcinoma whose tumor tissues were sampled and then analyzed. These samples were then divided according to ARID1A expression after immunohis… (full text at CIViC) PMID 25628030 · Park et al., 2015 · Open in CIViC | civic |
| TFE3 Fusion2 | ||||||||
| (diagnostic) | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports Positive | 3 | rejected | EID11529Argani, et al. (2001) included eight morphologically distinctive renal cell carcinomas with the t(X;17) translocation as seen in alveolar soft part sarcoma (ASPS), with the distinction that the t(X;17… (full text at CIViC) PMID 28766250 · Ju et al., 2018 · Open in CIViC | civic |
| 〃 | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports Positive | 3 | accepted | EID11532Argani, et al. (2001) included eight morphologically distinctive renal cell carcinomas with the t(X;17) translocation as seen in alveolar soft part sarcoma (ASPS), with the distinction that the t(X;17… (full text at CIViC) PMID 11438465 · Argani et al., 2001 · Open in CIViC | civic |
| B4GALT1 Overexpression1 | ||||||||
| (prognostic) | Renal Cell CarcinomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1278438 patients with non-metastatic clear-cell renal carcinoma were were retrospectively analysed for B4GALT1 expression via IHC. High B4GALT1 expression was associated with poor overall survival (P<0.00… (full text at CIViC) PMID 27092876 · Xie et al., 2016 · Open in CIViC | civic |
| BAP1 Loss1 | ||||||||
| Olaparib | Kidney CarcinomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5930BAP1 loss sensitized cells to the PARP inhibitor olaparib. In addition, BAP1-deficient cells were more sensitive to ionizing radiation. PMID 22683710 · Peña-Llopis et al., 2012 · Open in CIViC | civic |
| BAP1 Mutation4 | ||||||||
| (prognostic) | Clear Cell Renal Cell Carcinoma | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID459In patients with clear cell renal cell carcinoma, in a multivariate analysis those with mutations in BAP1 had worse overall survival than wild-type. PMID 23797736 · Sato et al., 2013 · Open in CIViC | civic |
| 〃 | Renal Cell CarcinomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID460In patients with clear cell renal cell carcinoma, in a multivariate analysis those with mutations in BAP1 had worse overall survival than wild-type. PMID 23797736 · Sato et al., 2013 · Open in CIViC | civic |
| 〃 | Clear Cell Renal Cell Carcinoma | Prognostic | B | Supports Poor Outcome | 5 | accepted | ||
| BAP1 Q267fs1 | ||||||||
| Niraparib | Clear Cell Renal Cell Carcinoma | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID11199A patient with Clear cell renal cell carcinoma previously treated with sorafenib, axitinib, and everolimus was found to harbor a BAP1 frameshift mutation described as c.799_800del (p.Q267fs). Based o… (full text at CIViC) PMID 35875073 · Lian et al., 2022 · Open in CIViC | civic |
| CCNB3 Fusion3 | ||||||||
| (diagnostic) | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID12003In this 2018 study, the authors aimed to identify driver events in 'double negative' clear cell sarcoma of the kidney (CCSK) where neither BCOR ITDs nor the YWHAE::NUTM2 gene fusion are detected. Elev… (full text at CIViC) PMID 28833375 · Wong et al., 2018 · Open in CIViC | civic |
| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID12004In this 2020 study, the authors report two patients with BCOR::CCNB3 fusion-positive clear cell sarcoma of the kidney (CCSK). Cases were males aged 10 and 14 years who presented with advanced disease.… (full text at CIViC) PMID 31876361 · Han et al., 2020 · Open in CIViC | civic |
| 〃 | Clear Cell Sarcoma of the KidneyALIAS | |||||||
| BCOR ITD4 | ||||||||
| (diagnostic) | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | B | Supports Positive | 5 | accepted | EID10801BCOR internal tandem duplications (ITDs) were found frequently in cases of clear cell sarcoma of kidney (CCSK), a rare pediatric renal cancer. The study initially evaluated 3 CCSK samples by whole exo… (full text at CIViC) PMID 26573325 · Roy et al., 2015 · Open in CIViC | civic |
| (oncogenic) | Clear Cell Sarcoma of the KidneyALIAS | Oncogenic | B | Supports Oncogenicity | 4 | accepted | EID1080227 cases of CCSK were profiled by whole exome sequencing and whole transcriptomics, identifying BCOR ITDs in the majority (23/27, 85%). BCOR encodes a key constituent of a variant polycomb repressive… (full text at CIViC) PMID 26573325 · Roy et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Clear Cell Sarcoma of the KidneyALIAS | |||||||
| BRD4 Overexpression1 | ||||||||
| JQ1 | Clear Cell Renal Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID2957Renal cell carcinoma (RCC) remains an intractable genitourinary malignancy. Resistance to chemotherapy or targeted therapies in RCC is presumably due to the complicated underlying molecular mechanisms… (full text at CIViC) PMID 28391274 · Wu et al., 2017 · Open in CIViC | civic |
| CCND1 Amplification1 | ||||||||
| Palbociclib | Renal Cell CarcinomaCURATED_BROADER | Predictive | D | Does Not Support Sensitivity Response | 2 | accepted | EID156028 renal cell carcinoma cell lines were tested for sensitivity to CDK4/6 inhibitor Palbociclib (PD0332991). 19 were reported sensitive, and 9 resistant. 15 of the 28 cell lines had high levels of Cycl… (full text at CIViC) PMID 23898052 · Logan et al., 2013 · Open in CIViC | civic |
| CD274 Expression1 | ||||||||
| Atezolizumab | Bladder Urothelial Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 2 | submitted | EID9886Within a multicentre, open-label, phase 3 randomised control trial, investigation of the potential biomarker PD-L1 was found not to potentiate anti-tumor effects in response to atezolizumab in metasta… (full text at CIViC) PMID 29268948 · Powles et al., 2018 · Open in CIViC | civic |
| CD44 CD44v91 | ||||||||
| (prognostic) | Bladder Urothelial Carcinoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9397After second line treatment with cisplatin, 64 patients with positive immunohistochemical staining of CD44v9 show a significant decrease of cancer specific survival rate (p = 0.008). In multivariate a… (full text at CIViC) PMID 29385995 · Hagiwara et al., 2018 · Open in CIViC | civic |
| CDKN2A Loss2 | ||||||||
| Immune Checkpoint Inhibitor | Bladder Urothelial Carcinoma | Predictive | B | Supports Resistance | 3 | accepted | EID12546In retrospective analyses of two large ICI-treated solid tumor cohorts (DFCI n = 789, MSKCC n = 1250), CDKN2A loss-of-function alterations were associated with significantly worse overall survival and… (full text at CIViC) PMID 34074656 · Adib et al., 2021 · Open in CIViC | civic |
| Palbociclib | Renal Cell CarcinomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1373Preclinical study of CDK4/6 inhibitor PD-0332991 in 28 renal carcinoma cell lines (25 malignant RCC and three non-malignant, transformed cell lines derived from kidney epithelium). Both p15 and p16 lo… (full text at CIViC) PMID 23898052 · Logan et al., 2013 · Open in CIViC | civic |
| CDKN2B Loss1 | ||||||||
| Palbociclib | Renal Cell CarcinomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1374Preclinical study of CDK4/6 inhibitor PD-0332991 in 28 renal carcinoma cell lines (25 malignant RCC and three non-malignant, transformed cell lines derived from kidney epithelium). Both p15 and p16 lo… (full text at CIViC) PMID 23898052 · Logan et al., 2013 · Open in CIViC | civic |
| DICER1 Loss-of-function1 | ||||||||
| (predisposing) | Anaplastic Sarcoma of the Kidney | Predisposing | B | Supports Predisposition | 2 | submitted | EID11473Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| DICER1 RNase IIIb Mutation1 | ||||||||
| (oncogenic) | Anaplastic Sarcoma of the Kidney | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID11472An analysis of DICER1 mutations in anaplastic sarcoma of the kidney identified RNase IIIb DICER1 mutations in 8 of 9 cases (89%). An in vitro cleavage assay of miR122 demonstrated that three of the DI… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| DICER1 Loss-of-function + DICER1 RNase IIIb Mutation1 | ||||||||
| (diagnostic) | Anaplastic Sarcoma of the Kidney | Diagnostic | B | Supports Positive | 4 | submitted | EID11471Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| DROSHA E518K1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6090A higher relapse rate was observed in patients that have both DROSHA E518K and SIX Q177R muations. PMID 25670082 · Walz et al., 2015 · Open in CIViC | civic |
| EGFR ITD1 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 3 | submitted | EID11281In an analysis of 22 cases of mesoblastic nephroma, 4 of 5 (80%) cellular mesoblastic nephromas harbored ETV6::NTRK3, 1 of 5 cellular mesoblastic nephromas harbored a KLHL7::BRAF fusion, 12 of 12 (100… (full text at CIViC) PMID 32590884 · Zhao et al., 2020 · Open in CIViC | civic |
| ALK e2::e201 | ||||||||
| Unspecified therapy | Renal Cell CarcinomaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 3 | accepted | EID1266Adenocarcinoma cells were detected via urinary cytology in a 53 year old woman. Cancer morphology suggested papillary renal cell carcinoma (RCC), type 2A. EML4-ALK variant 5 was discovered in tumor t… (full text at CIViC) PMID 22252991 · Sugawara et al., 2012 · Open in CIViC | civic |
| NTRK3 Fusion1 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | C | Supports Positive | 3 | accepted | EID10420To determine if EML4::NTRK3 fusions were recurrent in tumors known to harbor ETV6::NTRK3 fusions, the authors screened 63 cases with varying diagnoses (infantile fibrosarcoma, congenital mesoblastic n… (full text at CIViC) PMID 29099503 · Church et al., 2018 · Open in CIViC | civic |
| EPAS1 Overexpression1 | ||||||||
| Pazopanib | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID1673HIF2A (EPAS1) staining was conducted on tumors from 66 patients, of which 27 were classified as low expression and 39 were classified as high expression. The response rates of patients with low and hi… (full text at CIViC) PMID 23881929 · Choueiri et al., 2013 · Open in CIViC | civic |
| ERBB2 Amplification1 | ||||||||
| Pertuzumab + TrastuzumabCombination | Bladder Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID5982The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. Three of nin… (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC | civic |
| ERBB2 D277H2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11362Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular II domain. RT112 cells infected with lentiviral vectors cont… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Lapatinib | Bladder Urothelial Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID11363Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular II domain. In regards to the response to lapatinib, after th… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 D769H1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11499Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID:CF3097). The patient was categorised as a “… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 G292R1 | ||||||||
| Neratinib | Malignant Bladder NeoplasmALIAS | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID12119In the SUMMIT basket trial (clinicaltrials.gov identifier NCT01953926) patients with solid tumors of various histologies harboring mutations of either HER2 or HER3 were enrolled and treated with the p… (full text at CIViC) PMID 29420467 · Hyman et al., 2018 · Open in CIViC | civic |
| ERBB2 L15F2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11232Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (VM-CUBIII). The variant is located in the signal domain. RT112 cells infected with lentiviral vectors containin… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Lapatinib | Bladder Urothelial Carcinoma | Predictive | D | Does Not Support Sensitivity Response | 2 | submitted | EID11231Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (VM-CUBIII). The variant is located in the signal domain. In regards to the response to lapatinib, after three d… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 Mutation1 | ||||||||
| Platinum Compound | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1694In patients with muscle-invasive bladder chancer, a cohort of complete responders to platinum chemotherapy (n=38) and non-responders to platinum chemotherapy (n=33) were evaluated for 178 cancer-assoc… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 R143Q2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11360Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular I domain. RT112 cells infected with lentiviral vectors contai… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Lapatinib | Bladder Urothelial Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID11361Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular I domain. In regards to the response to lapatinib, after thr… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 R678L1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11498Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID: CF3122). The patient was categorised as a … (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 R678Q2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11469Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (J82). The variant is located in the transmembrane domain. RT112 cells infected with lentiviral vectors containi… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Lapatinib | Bladder Urothelial Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID11470Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (J82). The variant is located in the transmembrane domain. Regarding the response to lapatinib, after three days… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 S310F2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID11364Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1 and 5637). The variant is located in the Extracellular II domain. RT112 cells infected with lentiviral vec… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11496Variant found in patient's that were diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID: 9013, CF0943, CF0945, CF1005, CF0955). Th… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
Data updated 23 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.
EID461In patients with clear cell renal cell carcinoma, those with nonsilent mutations of BAP1 had worse overall survival than wild-type. PMID 23792563 · 2013, Nature · Open in CIViC |
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| Everolimus + SunitinibSequential | Clear Cell Renal Cell Carcinoma | Predictive | B | Supports Resistance | 4 | accepted | EID5339This study evaluated the effects of everolimus and sunitinib on patients with metastatic renal cell carcinoma. A total of 220 patients with RCC were evaluated for 341 genes at 540x coverage. Of all 22… (full text at CIViC) PMID 27751729 · Hsieh et al., 2017 · Open in CIViC | civic |
| Diagnostic |
| C |
| Supports Positive |
| 2 |
| accepted |
EID12005In this 2017 study, the authors describe two primary renal sarcomas harboring BCOR::CCNB3 gene fusions and compare the morphological and immunochemical features to typical clear cell sarcoma of the ki… (full text at CIViC) PMID 28817404 · Argani et al., 2017 · Open in CIViC |
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| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID11423High BCOR expression which was associated with an internal tandem duplication (ITD) of 89 to 144 bp in exon 16 of the BCOR gene was identified in 20 of 20 (100%) of cases of clear cell sarcoma of the … (full text at CIViC) PMID 26098867 · Ueno-Yokohata et al., 2015 · Open in CIViC |
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| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11424Whole transcriptome sequencing on tumors from 8 patients with clear cell sarcoma of the kidney identified BCOR ITD and overexpression of BCOR in all samples. The BCOR ITD was confirmed on tumor DNA.… (full text at CIViC) PMID 26516930 · Astolfi et al., 2015 · Open in CIViC | civic |