- NCIt
- C4525
Loading cancer entity…
Loading cancer entity…
Variants & evidence
14 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 |
|---|---|---|---|---|---|---|---|---|
| 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 | 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 | civic |
| 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 | |||||||
| 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 |
| NTRK3 Fusion1 | ||||||||
| (diagnostic) | 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 |
| 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 | |
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.
| 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 |
| civic |
| 〃 | 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 |
| civic |
| 〃 | 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 |