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Variants & evidence
7,129 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 |
|---|---|---|---|---|---|---|---|---|
| RELA Fusion5 | ||||||||
| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Poor Outcome | 3 | rejected | EID11439Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports Positive | 3 | accepted | EID11440Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| 〃 | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports Positive | 3 | accepted | EID11448Paired-end RNA sequencing identified a fusion between C11orf95 (now known as ZFTA) and RELA in 14 of 19 supratentorial ependymomas. This fusion was not detectable in a series of other CNS tumors incl… (full text at CIViC) PMID 24562983 · Pietsch et al., 2014 · Open in CIViC | civic |
| (oncogenic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID11441Fusions between ZFTA (C11orf95) and RELA are identified in 70% of supratentorial ependymomas. RELA is the principal effector of NF-KB signaling. The introduction of the fusion into neural stem cell… (full text at CIViC) PMID 24553141 · Parker et al., 2014 · Open in CIViC | civic |
| 〃 | Supratentorial Ependymoma ZFTA Fusion-Positive | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID11442Viral introduction of the ZFTA::RELA fusion into periventricular neural stem cells in mice was shown to induce tumors that recapitulate human supratentorial ependymoma. Introduction of wild type ZFT… (full text at CIViC) PMID 29949764 · Ozawa et al., 2018 · Open in CIViC | 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 |
| ABL1 Fusion10 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Prognostic | B | Supports Better Outcome | 4 | accepted | EID9149A multicenter, retrospective, cohort study that included 122 paediatric patients (aged 1-18 years) with newly diagnosed ABL-class fusion B-cell acute lymphocytic leukemia who had not received tyrosine… (full text at CIViC) PMID 33357483 · den Boer et al., 2021 · Open in CIViC | civic |
| (oncogenic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID12638In a multicentre retrospective cohort study of 122 paediatric patients (aged 1-18 years) with newly diagnosed ABL-class fusion (ABL1 fusion-positive, ABL2 fusion-positive, CSF1R fusion-positive, and P… (full text at CIViC) PMID 33357483 · den Boer et al., 2021 · Open in CIViC | civic |
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | |||||
| FGFR1 Fusion1 | ||||||||
| Midostaurin | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1104A t(8;13)(p11;q12) patient with ZNF198-FGFR1-induced progressive myeloproliferative disorder was treated with PKC412. Radiographic studies performed 3 months after initiation of therapy revealed marke… (full text at CIViC) PMID 15448205 · Chen et al., 2004 · Open in CIViC | civic |
| FGFR1 Fusion + FGFR1 Fusion + FGFR1 Translocation + FGFR1 Fusion + FGFR1 Fusion3 | ||||||||
| Pemigatinib | Myeloid Neoplasm | Predictive | A | Supports Sensitivity Response | 3 | accepted | EID11324In this phase 2, multicenter trial, 41 patients were enrolled who had myeloid/lymphoid neoplasms (MLNs) with fibroblast growth factor receptor 1 (FGFR1) rearrangements. Patients (pts) may present with… (full text at CIViC) | civic |
| 〃 | Lymphoid Leukemia | Predictive | A | Supports Sensitivity Response | 3 | submitted | EID12241In this phase 2, multicenter trial, 41 patients were enrolled who had myeloid/lymphoid neoplasms (MLNs) with fibroblast growth factor receptor 1 (FGFR1) rearrangements. Patients (pts) may present with… (full text at CIViC) | civic |
| 〃 | Lymphoma | Predictive | A | Supports Sensitivity Response | 3 | submitted | EID12242In this phase 2, multicenter trial, 41 patients were enrolled who had myeloid/lymphoid neoplasms (MLNs) with fibroblast growth factor receptor 1 (FGFR1) rearrangements. Patients (pts) may present with… | |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Myeloproliferative NeoplasmCURATED_BROADER | Diagnostic | C | Supports Positive | 4 | submitted | EID13104This study reported two cases of myeloproliferative neoplasm with eosinophilia harboring a ZMYM2::FLT3 fusion, which was cytogenetically cryptic and resulted from an approximately 8-Mb inversion. Case… (full text at CIViC) PMID 28751768 · Jawhar et al., 2017 · Open in CIViC | civic |
| ZNF217 Overexpression4 | ||||||||
| (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 |
| 〃 | Malignant Breast Neoplasm | Prognostic | D | Supports Poor Outcome | 3 | submitted | EID12208ZNF217 overexpression is linked to reduced survival across multiple breast cancer subtypes. A meta-analysis of relapse-free survival across nine studies involving 858 patients revealed that higher ZNF… (full text at CIViC) PMID 22728437 · Littlepage et al., 2012 · Open in CIViC | civic |
| Triciribine | Malignant Breast Neoplasm | Predictive | D | Supports Sensitivity Response | ||||
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7706This study included 1389 cases of high-risk pediatric B-ALL, out of which 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on the… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| ZNF292 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID12002This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7999In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The ZNF430-JAK2 fusion is rare; in this study inv… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC | civic |
| ZRSR2 MUTATION1 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID7466ZRSR2 is part of the spliceosome. Mutation in SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, or STAG2 was >95% specific for the diagnosis of secondary-AML PMID 25550361 · Lindsley et al., 2015 · Open in CIViC | civic |
Data updated 22 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.
| Supports Positive |
| 2 |
| accepted |
EID9077This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9152Study comprised 574 children with newly diagnosed B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and focused on B-other/BCR-ABL-like which were identified by hierarchical clustering of gene e… (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID11619B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 3 of 4 patients (ages 2.2, 2.6, a… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12635A study of 204 children with B-cell precursor acute lymphoblastic leukemia from three Dutch trials (DCOG ALL-8, 9, 10) and two German trials (COALL 06-97, 07-03) included 73 cases of BCR-ABL1-like B-A… (full text at CIViC) | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID9151A 18-month-old female with B-cell acute lymphoblastic leukemia. Chromosome and FISH analysis using a BCR-ABL1 probe confirmed the involvement of ABL1 in a t(9;10)(q34;q22.3) translocation. Follow-up m… (full text at CIViC) PMID 18007576 · Soler et al., 2008 · Open in CIViC | civic |
| Azacitidine + DasatinibCombination | Chronic Myelomonocytic Leukemia | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID12636A 60-year-old presented with bloating and shortness of breath. Records showed leukocytosis (white blood cell count of 12 × 109/L) with enlarged spleen. WBC was 16.43 × 10^9/L. abdominal ultrasound sho… (full text at CIViC) PMID 36694063 · Liu et al., 2023 · Open in CIViC | civic |
| Chemotherapy + DasatinibCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID11119An 11 year old female (46,XX) had B-ALL. The patient received a 4-drug induction and end induction day 29 MRD was 5.4%. LDA card was used to analyze the patient and the leukemia was determined to be P… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Chemotherapy + ImatinibCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID12615A pediatric patient had a hematopathologic diagnosis of B-ALL determined through bone marrow aspirate analysis. The patient had a hemoglobin level of 3 g/dL, severe neutropenia, and a normal platelet … (full text at CIViC) PMID 38749501 · Booth et al., 2025 · Open in CIViC | civic |
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| 3 |
| submitted |
EID12209Triciribine inhibits ZNF217-driven tumour growth and signalling both in vivo and in vitro. In mouse models, triciribine reduced tumour burden and levels of phospho-AKT and phospho-MAPK, while increasi… (full text at CIViC) PMID 22728437 · Littlepage et al., 2012 · Open in CIViC |
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| 〃 | Osteosarcoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12210In an orthotopic mouse model of osteosarcoma (OSA), triciribine (TCN) treatment significantly reduces tumour growth and weight in both SJSA-1 and HOS cell line injections, with 5.4- and 3.0-fold reduc… (full text at CIViC) PMID 32999043 · Smeester et al., 2020 · Open in CIViC | civic |