Cancer
Malignant Kidney Neoplasm
CI-CAN-00003171Explore in graph →
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Cancer
CI-CAN-00003171Explore in graph →
Variants & evidence
237 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 |
| CDKN2A Loss1 | ||||||||
| 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 |
| ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION1 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | C | Supports Positive | 2 | rejected | EID10417EML6::NTRK3 fusion is seen in cases of Infantile fibrosarcoma and congenital mesoblastic nephroma. In general, these types of tumors more commonly harbor ETV6::NTRK3 fusions. PMID 29099503 · Church et al., 2018 · Open in CIViC | civic |
| NTRK3 Fusion6 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 3 | accepted | EID10841A frequent genetic alteration in congenital mesoblastic nephroma is the translocation t(12;15) resulting in a fusion of the ETV6 gene on 12p13 and the NTRK3 gene on 15p15 that occurs almost exclusivel… (full text at CIViC) PMID 29286563 · Vokuhl et al., 2018 · Open in CIViC | civic |
| (prognostic) | Congenital Mesoblastic Nephroma | Prognostic | B | Supports Better Outcome | 3 | submitted | EID10842In a group of 111 mesoblastic nephroma (MN) samples, 79 were were evaluable by FISH, which consisted of 38 classical MN, 29 cellular MN, and 12 mixed MN samples. 5 year relapse free survival (RFS) was… (full text at CIViC) PMID 29286563 · Vokuhl et al., 2018 · Open in CIViC | civic |
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 3 | |||
| FBXW7 Loss-of-function1 | ||||||||
| Everolimus | Renal Cell CarcinomaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 2 | accepted | EID1628mTOR protein levels were found to underly a circadian 24-hour rhythm regulated by time-dependent Fbxw7-mediated ubiquitination. Survival rates of tumor-bearing mice with everolimus showed time-depende… (full text at CIViC) PMID 24253377 · Okazaki et al., 2014 · Open in CIViC | civic |
| FGFR2 Overexpression1 | ||||||||
| (prognostic) | Papillary Renal Cell Carcinoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6454Only 12/118(10.2%) of patients with type I papillary renal cell carcinoma expressed FGFR2 whereas 37/96 (38.5%) patients with type II papillary renal cell carcinoma(P=0.001). In addition, FGFR2 expre… (full text at CIViC) PMID 27379982 · Tsimafeyeu et al., 2017 · Open in CIViC | civic |
| FGFR3 S249C1 | ||||||||
| AZD-4547 | Renal Pelvis Urothelial CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID8316The phase II NCI-MATCH trial (EAY131) subprotocol W assessed the FGFR1-3 selective TKI AZD-4547 in 48 patients with FGFR1/2 amplifications, FGFR2/3 SNV or FGFR1/3 fusions. The partial response overall… (full text at CIViC) PMID 32463741 · Chae et al., 2020 · Open in CIViC | civic |
| TACC3 Fusion1 | ||||||||
| Fexagratinib | Renal Pelvis Urothelial CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID9227Phase II study (NCT02465060) from NCI-MATCH Trial (EAY131) Subprotocol W addressed the use of AZD4547 (an FGFR 1-3 inhibitor) in 48 tumor patients carrying FGFR 1-3 variants. Partial responses were ob… (full text at CIViC) PMID 32463741 · Chae et al., 2020 · Open in CIViC | civic |
| FH Deficient2 | ||||||||
| Bevacizumab + ErlotinibCombination | Hereditary Renal Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12939In the open‑label phase II AVATAR trial (NCT01130519), patients with HLRCC‑associated papillary RCC harboring germline FH pathogenic variants (n = 43) received erlotinib plus bevacizumab, with ORR as … (full text at CIViC) PMID 40532152 · Srinivasan et al., 2025 · Open in CIViC | civic |
| 〃 | Papillary Renal Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12940In the open‑label phase II AVATAR trial (NCT01130519), patients with sporadic papillary RCC (n = 40) received erlotinib plus bevacizumab, with ORR as the primary endpoint. They demonstrated a lower OR… (full text at CIViC) PMID 40532152 · Srinivasan et al., 2025 · Open in CIViC | civic |
| FLCN c.1285dupC1 | ||||||||
| Everolimus | Renal Cell CarcinomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 1 | accepted | EID10137A case study showed that the mTOR inhibitor everolimus exhibited a relatively long-term effect in a patient with renal cell carcinoma and a FLCN germline mutation (c. 1285dupC, likely loss of function… (full text at CIViC) PMID 23995526 · Nakamura et al., 2013 · Open in CIViC | civic |
| FLCN Loss1 | ||||||||
| Sirolimus | Kidney CarcinomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5991Genetic disruption of Flcn in mouse kidney distal tubule cells leads to tumorigenic transformation of these cells to develop allograft tumors with an aggressive histologic phenotype. mTOR pathway play… (full text at CIViC) PMID 26418749 · Wu et al., 2015 · Open in CIViC | civic |
| FLCN Mutation1 | ||||||||
| Everolimus | Papillary Renal Cell Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID5990In a patient with Birt-Hogg-Dubé syndrome-associated papillary renal cell carcinoma use of everolimus as sixth-line systematic treatment exhibited a relatively long-term effect as compared with the pr… (full text at CIViC) PMID 23995526 · Nakamura et al., 2013 · Open in CIViC | civic |
| FLT3 T227M1 | ||||||||
| Sunitinib | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Adverse Response | 3 | accepted | EID1317In 219 patients with mostly Renal Cell Carcinoma and some Gastrointestinal Stromal tumors given sunitinib treatment, FLT3 T227M (rs1933437) was associated with the development of leukopenia. 95% confi… (full text at CIViC) PMID 19667267 · van Erp et al., 2009 · Open in CIViC | civic |
| GNAS c.393T>C1 | ||||||||
| (prognostic) | Clear Cell Renal Cell Carcinoma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID2896In this study, Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-related death showed a significant association of the T393C polymorphism with outcome (5-year cancer-spec… (full text at CIViC) PMID 16467086 · Frey et al., 2006 · Open in CIViC | civic |
Data updated 21 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 |
| accepted |
EID11279In an analysis of 19 cases of mesoblastic nephroma, the ETV6::NTRK3 fusion was detected in 0 of 5 of the classic mesoblastic nephroma, 8 of 8 (100%) of the cellular mesoblastic nephroma and 5 of 6 (83… (full text at CIViC) PMID 27020209 · El Demellawy et al., 2016 · Open in CIViC |
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| 〃 | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 2 | accepted | EID11280In 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 |
| 〃 | Anaplastic Sarcoma of the Kidney | Diagnostic | C | Does Not Support Negative | 1 | submitted | EID10421In 4 cases of Anaplastic sarcoma of the kidney ETV6::NTRK3 fusion was negative. PMID 17895746 · Vujanić et al., 2007 · Open in CIViC | civic |
| Larotrectinib | Congenital Mesoblastic Nephroma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID10840A 23 month old (at the time of report) male was diagnosed prenatally with Stage II cellular mesoblastic nephroma (MN) on the right kidney, which was surgically removed on the sixth day of life. ETV6::… (full text at CIViC) PMID 29893456 · Halalsheh et al., 2018 · Open in CIViC | civic |