Cancer Family
Rhabdoid Tumor
CI-CAN-00000342Explore in graph →
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Cancer Family
CI-CAN-00000342Explore in graph →
Variants & evidence
9 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 |
|---|---|---|---|---|---|---|---|---|
| ASCL1 EXPRESSION1 | ||||||||
| (prognostic) | Atypical Teratoid/Rhabdoid Tumor | Prognostic | B | Supports Better Outcome | 5 | submitted | EID7055This retrospective study analyzed the role of ASCL1 expression in the overall prognosis of patients with atypical teratoid rhabdoid tumors. ASCL1 expression was found to correlate with superior 5-year… (full text at CIViC) PMID 25882982 · Torchia et al., 2015 · Open in CIViC | civic |
| SMARCA4 Loss1 | ||||||||
| (diagnostic) | Atypical Teratoid/Rhabdoid Tumor | Diagnostic | A | Supports Positive | 5 | submitted | EID8864Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| SMARCB1 Deletion2 | ||||||||
| Panobinostat | Rhabdoid TumorALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID1964Sustained low-dose panobinostat (LBH589) treatment of rhabdoid tumor cells led to changes in cellular morphology associated with a marked increase in the induction of differentiation pathways. In mous… (full text at CIViC) PMID 26920892 · Muscat et al., 2016 · Open in CIViC | civic |
| Tazemetostat | Rhabdoid TumorALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1740EPZ-6438 (Tazemetostat) induces apoptosis and differentiation specifically in SMARCB1-deleted malignant rhabdoid tumors (MRT) cells. This study compared in vitro EPZ-6438 treatment of four SMARCB1-del… (full text at CIViC) PMID 23620515 · Knutson et al., 2013 · Open in CIViC | civic |
| SMARCB1 Deletion + SMARCB1 Single nucleotide variant1 | ||||||||
| (diagnostic) | Atypical Teratoid/Rhabdoid Tumor | Diagnostic | B | Supports Positive | 4 | submitted | EID11177325 ATRTs underwent methylation profiling, revealing three methylation distinct clusters - ATRT-TYR, ATRT-SHH and ATRT-MYC. In the ATRT-TYR subgroup, the characteristic pattern of SMARCB1 loss was of … (full text at CIViC) PMID 31889194 · Ho et al., 2020 · Open in CIViC | civic |
| SMARCB1 Loss4 | ||||||||
| (diagnostic) | Atypical Teratoid/Rhabdoid Tumor | Diagnostic | A | Supports Positive | 5 | submitted | EID8863Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| 〃 | Atypical Teratoid/Rhabdoid Tumor | Diagnostic | B | Supports Positive | 4 | accepted | EID886253 pediatric tumors consisting of 20 AT/RT, 10 PNET, and 23 other central nervous system tumors were classified using microscopic diagnosis, and then tested for expression of the SMARCB1 gene product … (full text at CIViC) PMID 15105654 · Judkins et al., 2004 · Open in CIViC | civic |
| 〃 | Rhabdoid TumorALIAS | Diagnostic | B | Does Not Support | ||||
Data updated 10 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 |
EID11090The authors characterized the occurrence of SMARCB1 gene loss in epithelioid sarcomas. SMARCB1 immunohistochemistry staining demonstrated 19/21 patient samples were negative. Multiplex ligation depend… (full text at CIViC) PMID 23060122 · Sullivan et al., 2013 · Open in CIViC |
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| Tazemetostat | Atypical Teratoid/Rhabdoid Tumor | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID11180In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, the overall response in 21 patients with SMARCB1-deficient atypical teratoid rhabdoid tumors (ATRT) w… (full text at CIViC) | civic |