Cancer Family
Malignant Genitourinary System Neoplasm
CI-CAN-00000233Explore in graph →
- NCIt
- C156484
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Cancer Family
CI-CAN-00000233Explore in graph →
Variants & evidence
660 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 |
|---|---|---|---|---|---|---|---|---|
| TFE3 Fusion1 | ||||||||
| (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 |
| 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 | ||||
| XRCC1 Q399R1 | ||||||||
| Carboplatin + CisplatinSubstitutes | Malignant Cervical Neoplasm | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID673The XRCC1 R399Q variant was correlated with increased response to platinum-based neoadjuvant chemotherapy in patients with cervical cancer. Tumor samples from 36 patients with Stage IB or IIA bulky (g… (full text at CIViC) PMID 16875718 · Chung et al., 2006 · Open in CIViC | civic |
| NUTM2A Fusion + NUTM2B Fusion + NUTM2E FusionNUTM2ANUTM2BNUTM2E3 | ||||||||
| (diagnostic) | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11782In this 2012 study O’Meara et al. included 51 clear cell sarcoma of kidney (CCSK). Using an index CCSK with the t(10;17)(q22;p13) identified by cytogenetics, they were able to map the breakpoints and … (full text at CIViC) PMID 22294382 · O'Meara et al., 2012 · Open in CIViC | civic |
| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11783In this 2020 study Kenny et al. included 68 cases of clear cell sarcoma of the kidney (CCSK). Using RT-PCR with RNA extracted from FFPE tumour tissue they detected a YWHAE::NUTM2 fusion transcript in… (full text at CIViC) PMID 32364435 · Kenny et al., 2020 · Open in CIViC | |
| 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 |
| ZNF217 Overexpression1 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12207ZNF217 was overexpressed in 60% of ovarian tumour samples (26/44) as demonstrated by immunohistochemistry (IHC). Patients with ZNF217 expression had significantly shorter disease-free survival compare… (full text at CIViC) PMID 25031722 · Li et al., 2014 · Open in CIViC | civic |
Data updated 2 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.
| 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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| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11784In this 2016 study Kenny et al. included 159 cases of clear cell sarcoma of the kidney (CCSK). RNA was extracted from either snap-frozen or FFPE tumour tissue samples and real-time PCR used to identif… (full text at CIViC) PMID 27000436 · Kenny et al., 2016 · Open in CIViC | civic |