Subtype
Urinary System Adenocarcinoma
CI-CAN-00004181Explore in graph →
- NCIt
- C224634
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Subtype
CI-CAN-00004181Explore in graph →
Variants & evidence
167 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 |
|---|---|---|---|---|---|---|---|---|
| VHL W88* (c.263G>A)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6138This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL W88L (c.263G>T)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6009Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC | civic |
| VHL W8* (c.24G>A)1 | ||||||||
| (oncogenic) | Renal Cell CarcinomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID2986A single case (70 year-old named "3GT" in this study) with sporadic grade 3 renal cell carcinoma was observed with both W8* and G44D somatic variants. PMID 11536052 · Ma et al., 2001 · Open in CIViC | civic |
| VHL Y175* (c.525C>A)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6166This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL Y185* (c.555C>G)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6015Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC | civic |
| VHL Y98FS (c.291_310del20)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1951This variant was detected in a single case with clear-cell renal cell carcinoma. The tumor had two somatic variants (c.1-1_20del21 and c.291_310del20). Either of these variants is predicted to be quit… (full text at CIViC) PMID 15932632 · van Houwelingen et al., 2005 · Open in CIViC | civic |
| MITF Fusion1 | ||||||||
| (diagnostic) | Renal Cell Carcinoma with MiT Translocations | Diagnostic | C | Supports Positive | 1 | accepted | EID11702Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of 90 translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE g… (full text at CIViC) PMID 34986355 · Bakouny et al., 2022 · Open in CIViC | civic |
| TFE3 Fusion6 | ||||||||
| (diagnostic) | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports Positive | 4 | accepted | EID10150This study screened 983 Renal Cell Carcinoma (RCC) cases and identified 65 tumors with morphologic features suspicious of RCC with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC). TFE3 immunohistoc… (full text at CIViC) PMID 26169997 · He et al., 2015 · Open in CIViC | civic |
| 〃 | TFE3-Rearranged Renal Cell Carcinoma | Diagnostic | B | Supports Positive | 4 | accepted | EID11533Argani. et al,. (2016) included a total of 60 cases with known TFE3 gene rearrangements in this study of Xp11 translocation positive neoplasms (47 RCC, 8 PEComa, and 5 melanotic renal cancers). The ag… (full text at CIViC) PMID 26975036 · Argani et al., 2016 · Open in CIViC | civic |
| 〃 | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports | ||||
| TFEB Fusion3 | ||||||||
| (diagnostic) | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports Positive | 4 | accepted | EID11534Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE gene… (full text at CIViC) PMID 34986355 · Bakouny et al., 2022 · Open in CIViC | civic |
| 〃 | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports Positive | 3 | accepted | EID11535Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and are characterized by a specific chromosome translocation involving the transcription factor EB (TFEB). Identification of eithe… (full text at CIViC) PMID 22895266 · Rao et al., 2012 · Open in CIViC | civic |
| 〃 | Renal Cell Carcinoma with MiT Translocations | Diagnostic | C | Supports | ||||
| ZHX2 Overexpression1 | ||||||||
| Sorafenib | Papillary Renal Cell Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID9114Efficacy of second-line sorafenib treatment (initially 12.5 mg/day, escalated to 25 mg/day) in a 82-year old male patient with type 2 papillary renal cell carcinoma was confirmed with a partial respon… (full text at CIViC) PMID 32743370 · Morinaga et al., 2019 · Open in CIViC | civic |
Data updated 20 minutes 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.
| 4 |
| accepted |
EID11701Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of 90 translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE g… (full text at CIViC) PMID 34986355 · Bakouny et al., 2022 · Open in CIViC |
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| (prognostic) | Renal Cell Carcinoma with MiT Translocations | Prognostic | B | Supports Better Outcome | 2 | submitted | EID10164This study screened 983 Renal Cell Carcinoma (RCC) cases and identified 65 tumors with morphologic features suspicious of RCC with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC). TFE3 immunohistoc… (full text at CIViC) PMID 26169997 · He et al., 2015 · Open in CIViC | civic |
| 〃 | Renal Cell Carcinoma with MiT Translocations | Prognostic | C | Supports Poor Outcome | 4 | submitted | EID10149This study evaluates 200 nephrectomy cases. Within the 200 cases, there are four cases that are Xp11.2 translocation renal cell carcinomas (RCC). Previous studies identified two stages (pediatric and … (full text at CIViC) PMID 34917511 · Ge et al., 2021 · Open in CIViC | civic |
| (diagnostic) | Renal Cell Carcinoma with MiT Translocations | Diagnostic | C | Supports Positive | 2 | accepted | EID11683A study of 443 renal cell carcinoma identified 7 cases with an Xp11 translocation. The median age of the 7 patients was 41 years (range, 15 to 59 years). Of the 244 cases with a successful karyotype, … (full text at CIViC) PMID 19228722 · Komai et al., 2009 · Open in CIViC | civic |
| 2 |
| accepted |
EID11539A subset of renal neoplasms of children and young adults contains t(6;11)(p21;q12), fusion of the MALAT1 (Alpha) gene with the transcription factor gene TFEB. Argani, et al. (2005) included 7 renal ne… (full text at CIViC) PMID 15644781 · Argani et al., 2005 · Open in CIViC |
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