Cancer Family
Malignant Nervous System Neoplasm
CI-CAN-00000246Explore in graph →
953 active trials7 approved drugs131 evidence items
- NCIt
- C4788
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Cancer Family
CI-CAN-00000246Explore in graph →
Variants & evidence
313 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 |
|---|---|---|---|---|---|---|---|---|
| H3-3A G35V5 | ||||||||
| (diagnostic) | Diffuse Hemispheric Glioma, H3 G34-Mutant | Diagnostic | B | Supports Positive | 4 | submitted | EID12857G34V is the rarer of the two G34 substitutions identified in this stud by Schwartzentruber et al, with only 1/48 tumours in the primary WES cohort harbouring this variant (sample PGBM16), compared to … (full text at CIViC) PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC | civic |
| 〃 | Brain GlioblastomaALIAS | Diagnostic | C | Supports Positive | 3 | rejected | EID9415Whole genome sequencing was performed on the glioblastomas of 48 patients (between 3 and 20 years of age). The authors also analyzed gliomas of 784 patients of various ages. The G34V variant has been … (full text at CIViC) PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID9822Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC) PMID 26482474 · Korshunov et al., 2016 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | C | Supports Positive | 1 | submitted | EID9818Sturm, et al. (2012) analyzed 3 subgroups of glioblastoma samples using different methods: by sequencing (460 samples), by methylation profiling (59 pediatric and 77 adult samples), and with tissue-mi… (full text at CIViC) PMID 23079654 · Sturm et al., 2012 · Open in CIViC | civic |
| 〃 | Central Nervous System Embryonal TumorCURATED_BROADER | Diagnostic | C | Supports Positive | 1 | submitted | EID9823Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC) PMID 26482474 · Korshunov et al., 2016 · Open in CIViC | civic |
| H3-3A K282 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | B | Supports Positive | 3 | submitted | EID9608In this retrospective study, 112 adolescents and young adults (AYA; between 15 and 25 years of age; median 21 years) who had a histopathological diagnosis of high-grade gliomas were analyzed. The H3K2… (full text at CIViC) PMID 32025728 · Roux et al., 2020 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | submitted | EID9812Sturm, et al. (2012) analyzed 3 subgroups of glioblastoma samples using different methods: by sequencing (460 samples), by methylation profiling (59 pediatric and 77 adult samples), and with tissue-mi… (full text at CIViC) PMID 23079654 · Sturm et al., 2012 · Open in CIViC | civic |
| H3-3A K28M19 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | A | Supports Positive | 5 | submitted | EID8626Diffuse midline gliomas, H3 K27M-mutant is a newly defined entity in the 2016 WHO Classification. It primarily occurs in children (but sometimes in adults) and include tumors previously referred to as… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 4 | submitted | EID6449Of a set of 338 pediatric brain tumors, Gielen et al identified the K27M mutation in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. The authors state that H3F3A K27M c… (full text at CIViC) PMID 23429371 · Gielen et al., 2013 · Open in CIViC | civic |
| 〃 | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | B | |||||
| H3-3A K28R1 | ||||||||
| (diagnostic) | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | C | Supports Positive | 1 | submitted | EID9836Yoshimoto, et al. (2017) analyzed 411 gliomas of Japanese patients (median age of 46 years (ranged between 1 to 87 years)). Direct sequencing revealed H3F3A p.K27R in one 37 years of age anaplastic as… (full text at CIViC) PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC | civic |
| H3-3B K28I1 | ||||||||
| (oncogenic) | Diffuse Midline Glioma, H3 K27-Altered | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID13073Two adult patients with diffuse midline glioma (DMG) harboring a somatic H3F3B K27I mutation were reported. Next-generation sequencing on postoperative tissue was performed using a 539-gene panel (Si… (full text at CIViC) | civic |
| H3C14 K27M1 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 1 | submitted | EID10611Molecular characterisation of a series of 62 diffuse midline gliomas, H3 K27-altered, revealed a single case of a novel histone H3 variant - H3C14 (HIST2H3C) p.K28M (K7M). The variant occurred in the … (full text at CIViC) PMID 26399631 · Castel et al., 2015 · Open in CIViC | civic |
| H3C2 K27M5 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | B | Supports Positive | 3 | accepted | EID9546Whole-genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC) PMID 22286216 · Wu et al., 2012 · Open in CIViC | civic |
| (oncogenic) | Diffuse Midline Glioma, H3 K27-Altered | Oncogenic | B | Supports Oncogenicity | 2 | accepted | EID13177The recurrent HIST1H3B (now known as H3C2, encoding H3.1) p.K27M mutation was identified in human diffuse intrinsic pontine glioma (DIPG) samples and was associated with a significant global reduction… (full text at CIViC) PMID 23539183 · Lewis et al., 2013 · Open in CIViC | civic |
| (diagnostic) | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | C | Supports | ||||
| HDAC9 p.L33R1 | ||||||||
| (diagnostic) | GlioblastomaCURATED_BROADER | Diagnostic | D | Supports Positive | 4 | submitted | EID9240The study uses HDAC inhibitors, 4-PB and TSA, have differential effects on growth, differentiation, and apoptosis in glioma cells. The authors perform TUNNEL assay and used immunofluorescence to show … (full text at CIViC) PMID 18360709 · Svechnikova et al., 2008 · Open in CIViC | civic |
| HGF EXPRESSION1 | ||||||||
| MET Tyrosine Kinase Inhibitor SGX523 | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1707Three metastatic glioblastoma cell lines were compared with their parental cell lines with regard to differential gene expression. HGF signalling was among the top pathways identified. Exogenous HFG l… (full text at CIViC) PMID 22203985 · Xie et al., 2012 · Open in CIViC | civic |
| IDH1 R1326 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 5 | accepted | EID480In patients with a glioblastoma, those with mutations at R132 of IDH1 had better overall survival than wild-type patients. PMID 19228619 · Yan et al., 2009 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaALIAS | Prognostic | B | Supports Better Outcome | 5 | accepted | EID481In patients with anaplastic astrocytoma, those with mutations at R132 of IDH1 had better overall survival than wild-type patients. PMID 19228619 · Yan et al., 2009 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaALIAS | Prognostic | B | Supports Better Outcome | ||||
| IDH1 R132H2 | ||||||||
| (diagnostic) | GlioblastomaCURATED_BROADER | Diagnostic | A | Supports Positive | 5 | submitted | EID8629In the 2016 WHO classification for CNS tumors, IDH-mutant glioblastoma is recognized as a distinct entity. Whereas IDH-wildtype glioblastoma constitutes about 90% of cases and correspond to de novo gl… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| Pan-Mutant-IDH1 Inhibitor Bay-1436032 | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | — | submitted | EID2325In an experimental study, glioblastoma cells expressing IDH1 R132H were associated with sensitivity to (bis-2-(5-phenylacetamido-1,2,4-thiadiazol-2-yl)ethyl sulfide), comparable to cells expressing wi… (full text at CIViC) PMID 21045145 · Seltzer et al., 2010 · Open in CIViC | civic |
| IDH1 R132S1 | ||||||||
| Cetuximab | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | — | submitted | EID4033In a clinical study of 63 recurrent glioma patients, de novo glioblastoma patients treated with cetuximab monotherapy (n=27) and harboring IDH1 codon 132 mutation were associated with improved overal… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| IDH2 R1722 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 5 | accepted | EID482In patients with a glioblastoma, those with mutations at R172 of IDH2 had better overall survival than wild-type patients. PMID 19228619 · Yan et al., 2009 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaALIAS | Prognostic | B | Supports Better Outcome | 5 | accepted | EID483In patients with anaplastic astrocytoma, those with mutations at R172 of IDH2 had better overall survival than wild-type patients. PMID 19228619 · Yan et al., 2009 · Open in CIViC | civic |
| NTRK2 Fusion3 | ||||||||
| (oncogenic) | Brain GlioblastomaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID10896From a retrospective review of 38,095 tumor samples from 33,997 patients that underwent fusion screening at Memorial Sloan Kettering Cancer Center, 87 tumors were found to be positive for an NTRK1, NT… (full text at CIViC) PMID 31375766 · Solomon et al., 2020 · Open in CIViC | civic |
| Entrectinib | Ganglioneuroblastoma | Predictive | C | Supports Sensitivity Response | 1 | accepted | EID11854In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (7 yo) with … (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| Larotrectinib | Anaplastic Ependymoma | Predictive | C | Supports Sensitivity Response | ||||
Data updated 13 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.
| 4 |
| submitted |
EID9414Whole exome sequencing was performed on the glioblastomas of 48 pediatric patients (between 3 and 20 years of age). The authors also analyzed gliomas of 784 patients of various ages. The K27M variant … (full text at CIViC) PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC |
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| (oncogenic) | Diffuse Midline Glioma, H3 K27-Altered | Oncogenic | B | Supports Oncogenicity | 4 | submitted | EID10600In this study, 91 patients with diffuse intrinsic pontine glioma (DIPG) underwent stereotactic biopsy and were analyzed using histone H3 mutation testing, immunohistochemistry, gene expression profili… (full text at CIViC) PMID 26399631 · Castel et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | B | Supports Positive | 3 | accepted | EID6450Wu et al analyzed 127 pediatric HGGs, including diffuse intrinsic pontine gliomas (DIPGs) and non-brainstem HGGs (NBS-HGGs) by whole genome, whole exome, and/or transcriptome sequencing. In addition t… (full text at CIViC) PMID 24705251 · Wu et al., 2014 · Open in CIViC | civic |
| 〃 | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | B | Supports Positive | 3 | accepted | EID6453Whole genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC) PMID 22286216 · Wu et al., 2012 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | submitted | EID9800Kleinschmidt-DeMasters, et al. (2018) analyzed the tumor database for patients with the H3 K27M variant and found 28 cases (including 3 meeting WHO grade I and 25 meeting WHO grade II-IV criteria). Th… (full text at CIViC) PMID 29393845 · Kleinschmidt-DeMasters et al., 2018 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | submitted | EID9801Kleinschmidt-DeMasters, et al. (2018) analyzed the tumor database for patients with the H3 K27M variant and found 28 cases (including 3 meeting WHO grade I and 25 meeting WHO grade II-IV criteria). Th… (full text at CIViC) PMID 29393845 · Kleinschmidt-DeMasters et al., 2018 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | rejected | EID9816Sturm, et al. (2012) analyzed 3 subgroups of glioblastoma samples using different methods: by sequencing (460 samples), by methylation profiling (59 pediatric and 77 adult samples), and with tissue-mi… (full text at CIViC) PMID 23079654 · Sturm et al., 2012 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | submitted | EID9824Yoshimoto, et al. (2017) analyzed 411 gliomas of Japanese patients (median age of 46 years (ranged between 1 to 87 years)). Direct sequencing revealed H3F3A p.K27M in 10 glioblastoma cases (median age… (full text at CIViC) PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | submitted | EID9850Buczkowicz, et al. (2014) analyzed 74 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age at diagnosis 6 years, median survival of 10 months… (full text at CIViC) PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC | civic |
| 〃 | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | B | Supports Positive | 3 | accepted | EID10605This retrospective study analyzed 91 biopsy-confirmed diffuse intrinsic pontine glioma (DIPG) patients using systematic stereotactic or surgical biopsy at diagnosis. Histone H3 alterations were assess… (full text at CIViC) PMID 26399631 · Castel et al., 2015 · Open in CIViC | civic |
| 〃 | Brain GlioblastomaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11038Whole genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC) PMID 22286216 · Wu et al., 2012 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID9840Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months). Whol… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID9841Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 4 | submitted | EID9792Zhang et al. (2013) studied 151 tumors from 149 patients. The H3F3A p.K27M variant has been reported in 3 tumors (1.9%). The first sample (SJLGG037_D) was of a less than 3-year-old male patient screen… (full text at CIViC) PMID 23583981 · Zhang et al., 2013 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID9849Buczkowicz, et al. (2014) analyzed 74 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age at diagnosis 6 years, median survival of 10 months… (full text at CIViC) PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC | civic |
| (prognostic) | Diffuse Midline Glioma, H3 K27-Altered | Prognostic | D | Supports Poor Outcome | 3 | submitted | EID10602Diffuse intrinsic pontine glioma (DIPG) patients harboring a H3.3 K27M mutation have a proneural/oligodendroglial phenotype and a prometastatic gene expression with PDGFRA activation. These mutation c… (full text at CIViC) PMID 26399631 · Castel et al., 2015 · Open in CIViC | civic |
| Dordaviprone | Diffuse Midline Glioma, H3 K27-Altered | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID12695In a pooled analysis of five phase I–II trials and an expanded access program of ONC201 (dordaviprone) for recurrent H3 K27M–mutant diffuse midline glioma (NCT02525692, NCT03295396, NCT03416530, NCT03… (full text at CIViC) PMID 38335473 · Arrillaga-Romany et al., 2024 · Open in CIViC | civic |
| 5 |
| submitted |
EID9844Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC |
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| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID9843Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | Brain GlioblastomaALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID9583Whole-genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC) PMID 22286216 · Wu et al., 2012 · Open in CIViC | civic |
| 3 |
| accepted |
EID348In patients with astrocytoma, the presence of IDH1 R132 mutation is prognostic for better survival compared to patients who harbor wild type mutation. PMID 19933982 · Dubbink et al., 2009 · Open in CIViC |
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| 〃 | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID349In patients with glioblastoma, those harboring IDH1 R132 mutation has higher overall survival compared to those who do not have IDH1 mutation. PMID 20127344 · Bleeker et al., 2010 · Open in CIViC | civic |
| Cetuximab | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID4032In a clinical study of 63 recurrent glioma patients, de novo glioblastoma patients treated with cetuximab monotherapy (n=27) and harboring IDH1 codon 132 mutation were associated with improved overal… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | — | submitted | EID3718In a clinical study of 63 recurrent glioma patients, de novo glioblastoma patients treated with cetuximab monotherapy (n=27) and harboring IDH1 codon 132 mutation were associated with improved overal… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| 4 |
| accepted |
EID10360An MRI in a previously healthy 6-year-old boy now presenting with neurologic abnormalities and seizures revealed a mass obstructing the foramen of Monro and diffuse leptomeningeal dissemination. The p… (full text at CIViC) PMID 34651095 · Mangum et al., 2021 · Open in CIViC |
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