Cancer Family
Malignant Nervous System Neoplasm
CI-CAN-00000246Explore in graph →
- 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 |
|---|---|---|---|---|---|---|---|---|
| EGFR EGFRVIII + SEPTIN14 FusionSEPTIN14EGFR1 | ||||||||
| (oncogenic) | GlioblastomaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 2 | submitted | EID11152The study utilises a targeted gene fusion RNASeq panel to screen 356 diffuse gliomas for fusion events. Of these, 155 cases were IDH-wildtype glioblastomas, of which 2 harboured an EGFR::SEPT14 fusion… (full text at CIViC) PMID 32761533 · Woo et al., 2020 · Open in CIViC | civic |
| EGFR Exon 25 Deletion + EGFR Exon 26 Deletion + EGFR Exon 27 Deletion1 | ||||||||
| Tyrphostin AG 1478 | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12685In glioblastoma models expressing EGFR vIVa (lack of exons 25-27), a C-terminal deletion mutant that shows constitutive basal autophosphorylation and ligand-independent activation of ERK, AKT, and STA… (full text at CIViC) PMID 20676128 · Pines et al., 2010 · Open in CIViC | civic |
| EGFR Expression1 | ||||||||
| 3-Dimensional Conformal Radiation Therapy + Nimotuzumab + TemozolomideCombination | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID8299A single-arm phase 2 trial evaluated the benefit of adding nimotuzumab to standard chemo-radiation treatment for GBM. 36 patients were evaluable for efficacy, all of whom had EGFR positive tumours by … (full text at CIViC) PMID 31289592 · Du et al., 2019 · Open in CIViC | civic |
| EGFR G598V5 | ||||||||
| Afatinib + Erlotinib + OsimertinibSubstitutes | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID8234Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of EGFR inhibitors in vitro. Afatinib inhibited the growth and sphere-forming ability of BTSCs but not normal astrocy… (full text at CIViC) PMID 32226941 · Jensen et al., 2020 · Open in CIViC | civic |
| Afatinib + PacritinibCombination | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID8235Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor afatinib and JAK2 inhibitor pacritinib in vitro. Combination treatment with afatinib and pacrit… (full text at CIViC) PMID 32226941 · Jensen et al., 2020 · Open in CIViC | civic |
| EGFR Overexpression2 | ||||||||
| (prognostic) | Brain GlioblastomaALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID474In patients with glioblastoma multiforme, those with overespression of wild-type EGFR had shorter overall survival. PMID 14583498 · Shinojima et al., 2003 · Open in CIViC | civic |
| Bevacizumab + LomustineCombination | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID10894"Classical" glioblastoma patients (referred to as group IGS-18) exhibited overexpression of EGFR and showed improved survival with combination therapy of bevacizumab and lomustine with a median OS 11.… (full text at CIViC) PMID 26762204 · Erdem-Eraslan et al., 2016 · Open in CIViC | civic |
| SEPTIN14 Fusion5 | ||||||||
| (oncogenic) | GlioblastomaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 2 | submitted | EID11153The study presents a new fusion detection algorithm, CICERO ("CICERO Is Clipping Extended for RNA Optimization"). The authors compare their pipeline to gene fusions reported by TCGA network, using the… (full text at CIViC) PMID 32466770 · Tian et al., 2020 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 2 | submitted | EID12363In this article, the authors develop a method to detect gene fusion events using RNA-seq data and apply it to nearly 7,000 samples from The Cancer Genome Atlas (TCGA). Through this approach, they iden… (full text at CIViC) PMID 25204415 · Stransky et al., 2014 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | |||||||
| EGFR VIII5 | ||||||||
| Afatinib | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID8191Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor afatinib in vitro and in vivo. Afatinib inhibited the growth and sphere-forming ability of BTSC… (full text at CIViC) PMID 32226941 · Jensen et al., 2020 · Open in CIViC | civic |
| Afatinib + PacritinibCombination | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID8192Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor afatinib and JAK2 inhibitor pacritinib in vitro and in vivo. Combination treatment with subopti… (full text at CIViC) PMID 32226941 · Jensen et al., 2020 · Open in CIViC | civic |
| Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor | ||||||||
| VOPP1 Fusion1 | ||||||||
| (oncogenic) | GlioblastomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID12552Exome DNA sequencing was performed in 291 glioblastomas, 42 with whole genome sequencing, to update the TCGA dataset. Whole Genome Sequencing was performed on 42 of the samples, and ten of these demo… (full text at CIViC) PMID 24120142 · Brennan et al., 2013 · Open in CIViC | civic |
| VSTM2A Fusion1 | ||||||||
| Bevacizumab/Lomustine Regimen | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID11101EGFR::VSTM2A was identified by RNA-seq in tumor sample derived from 1/78 recurrent glioblastoma patients who benefited from combined beva/CCNU (bevacizumab in combination with lomustine) in the BELOB … (full text at CIViC) PMID 26762204 · Erdem-Eraslan et al., 2016 · Open in CIViC | civic |
| NTRK3 Fusion1 | ||||||||
| (oncogenic) | GlioblastomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID10507From a retrospective review of 38,095 tumor samples from 33,997 patients using DNA sequencing (MSK-IMPACT) and RNA sequencing (MSK-Fusion panel) identified 87 tumors with NTRK1-3 fusions. One case of… (full text at CIViC) PMID 31375766 · Solomon et al., 2020 · Open in CIViC | civic |
| NTRK3 Fusion3 | ||||||||
| (oncogenic) | Gliosarcoma | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12603In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, one patient (4 yo) with Biphasic and spindled epithelioid glial neoplasm had ETV6::NTRK3 fusion. The patient received che… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| Entrectinib | GlioblastomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID11848In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (3 yo) with a… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaCURATED_BROADER | Predictive | C | |||||
| EZH2 Overexpression2 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | submitted | EID8006Kaplan-Meier analysis of EZH2 gene expression showed that elevated expression is significantly associated with shorter disease-free survival in GBM (p=1.3e-12). PMID 32180229 · Li et al., 2020 · Open in CIViC | civic |
| GSK126 + TazemetostatSequential | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID9115Within this preclinical study, 87 patients with neuroblastoma and 14 neuroblastoma cell lines were evaluated for overexpression of EZH2 and possible prognostic factors. In patient samples the average … (full text at CIViC) PMID 28214660 · Bate-Eya et al., 2017 · Open in CIViC | civic |
| FGFR1 Overexpression1 | ||||||||
| (oncogenic) | Neuroblastoma | Oncogenic | D | Supports Oncogenicity | 5 | submitted | EID11022In neuroblastoma, high FGFR1 expression is associated with metastatic and relapsed tumors and inferior relapse-free survival, suggesting its role in promoting disease progression and recurrence. In vi… (full text at CIViC) PMID 35488346 · Cimmino et al., 2022 · Open in CIViC | civic |
| TACC1 Fusion1 | ||||||||
| Futibatinib | GlioblastomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID11634In a phase 1 multihistology trial of the FGFR1/2/3/4 inhibitor futibatinib, an objective response rate of 13.7% was seen with responses in a broad spectrum of tumors and across a broad spectrum of FGF… (full text at CIViC) PMID 34551969 · Meric-Bernstam et al., 2022 · Open in CIViC | civic |
| FGFR3 K508M1 | ||||||||
| (oncogenic) | GlioblastomaCURATED_BROADER | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11806Rat1A astrocytes cells expressing the FGFR3-TACC3-K508M were tested to evaluate anchorage-independent growth in soft agar (Fig. 2A and table S5) and did not show an ability to grow evidenced by no col… (full text at CIViC) PMID 22837387 · Singh et al., 2012 · Open in CIViC | civic |
| TACC3 Fusion1 | ||||||||
| Erdafitinib | GlioblastomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID13165In the phase II NCI-MATCH EAY131-K2 trial, two patients with WHO grade IV IDH1/2-wildtype glioblastoma harboring FGFR3 fusions experienced progression-free survival exceeding 168 days during erdafitin… (full text at CIViC) PMID 38603650 · Gong et al., 2024 · Open in CIViC | civic |
| FOXO3 Mutation2 | ||||||||
| (prognostic) | Choroid Plexus Carcinoma | Prognostic | A | Supports Poor Outcome | 3 | rejected | EID7223From UniProt: A chromosomal aberration involving FOXO3 is found in secondary acute leukemias. PMID 26822237 · Parsons et al., 2016 · Open in CIViC | civic |
| (functional) | Choroid Plexus Carcinoma | Functional | D | Supports Loss Of Function | 4 | rejected | EID7222Transcriptional activator which triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress. PMID 26822237 · Parsons et al., 2016 · Open in CIViC | civic |
| FOXR2 Rearrangement3 | ||||||||
| (diagnostic) | Central Nervous System Neuroblastoma, FOXR2-ActivatedALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11527In the 2016 study by Sturm et al., the authors performed comprehensive molecular profiling, including DNA methylation arrays, transcriptomics, and genome-wide sequencing, on 323 institutionally diagno… (full text at CIViC) PMID 26919435 · Sturm et al., 2016 · Open in CIViC | civic |
| 〃 | Central Nervous System Neuroblastoma, FOXR2-ActivatedALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11528DNA methylation profiling of 84 tumors initially diagnosed as CNS-PNET identified CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2) as a distinct molecular subgroup, presented in 24% (20/84) of c… (full text at CIViC) PMID 33536079 · Korshunov et al., 2021 · Open in CIViC | civic |
| 〃 | ||||||||
| NTRK2 Fusion1 | ||||||||
| Entrectinib | GlioblastomaCURATED_BROADER | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID12605In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| ROS1 e7::e351 | ||||||||
| Lorlatinib | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7483Ectopic expression of GOPC–ROS1 in Ba/F3 cells induced cytokine-independent growth whereas overexpression of ROS1 alone did not. Using a series of tyrosine kinase inhibitors, lorlatinib was the most e… (full text at CIViC) PMID 30171048 · Davare et al., 2018 · Open in CIViC | civic |
| ROS1 Fusion1 | ||||||||
| Entrectinib | Diffuse Midline Glioma, H3 K27-Altered | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID11849In 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 (4 yo) with … (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| H3-3A G351 | ||||||||
| (diagnostic) | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | submitted | EID9815Sturm, 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 G35R8 | ||||||||
| (diagnostic) | Diffuse Hemispheric Glioma, H3 G34-Mutant | Diagnostic | B | Supports Positive | 4 | submitted | EID12832This study presents a series of 81 cases of diffuse hemispheric glioma, H3 G34-mutant (DHG G34m). Cases were noted to have either the histological appearance of a typical glioblastoma (73%) or as prim… (full text at CIViC) PMID 26482474 · Korshunov et al., 2016 · Open in CIViC | civic |
| 〃 | Diffuse Hemispheric Glioma, H3 G34-Mutant | Diagnostic | B | Supports Positive | 4 | submitted | EID12856Schwartzentruber et al. performed whole-exome sequencing (WES) on 48 paediatric GBM samples (patients aged 3–20 years, tumour cores containing >90% neoplastic tissue, median 61-fold coverage with 91% … (full text at CIViC) PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC | civic |
| 〃 | Brain GlioblastomaALIAS | Diagnostic | B | |||||
| H3-3A G35V1 | ||||||||
| (diagnostic) | Diffuse Hemispheric Glioma, H3 G34-Mutant | Diagnostic | B | Supports Positive | 4 | submitted | EID12833This study presents a series of 81 cases of diffuse hemispheric glioma, H3 G34-mutant (DHG G34m). Cases were noted to have either the histological appearance of a typical glioblastoma (73%) or as prim… (full text at CIViC) PMID 26482474 · Korshunov et al., 2016 · Open in CIViC | civic |
Data updated 12 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.
| Erlotinib + PacritinibCombination | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID8236Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor erlotinib and JAK2 inhibitor pacritinib in vitro. Combination treatment with erlotinib and pacr… (full text at CIViC) PMID 32226941 · Jensen et al., 2020 · Open in CIViC | civic |
| Lapatinib + PacritinibCombination | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID8261Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor lapatinib and JAK2 inhibitor pacritinib in vitro. Combination treatment with lapatinib and pacr… (full text at CIViC) PMID 32226941 · Jensen et al., 2020 · Open in CIViC | civic |
| Osimertinib + PacritinibCombination | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID8284Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor AZD9291 and JAK2 inhibitor pacritinib in vitro. Combination treatment with AZD9291 and pacritin… (full text at CIViC) PMID 32226941 · Jensen et al., 2020 · Open in CIViC | civic |
| Oncogenic |
| D |
| Supports Oncogenicity |
| 4 |
| submitted |
EID10843Analysing whole transcriptome data from 185 GBM samples from TCGA, EGFR fusion events were found in 7.6% (14) of the cohort. In 6 of 14 cases, in-frame EGFR::SEPT14 (e24:e10) fusions were detected (3.… (full text at CIViC) PMID 23917401 · Frattini et al., 2013 · Open in CIViC |
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| Erlotinib + LapatinibSequential | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11002Analysing whole transcriptome data from 185 GBM samples from TCGA, EGFR fusion events were found in 7.6% (14) of the cohort. In 6 of 14 cases, in-frame EGFR::SEPT14 (e24:e10) fusions were detected (3.… (full text at CIViC) PMID 23917401 · Frattini et al., 2013 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID11155The primary aim of the study was the characterisation of fusion events in 185 GBM samples. As part of this study, a GBM xenograft with EGFR::SEPT14 fusion, derived from a heavily pre-treated patient, … (full text at CIViC) PMID 23917401 · Frattini et al., 2013 · Open in CIViC | civic |
| GlioblastomaCURATED_BROADER |
| Predictive |
| B |
| Supports Sensitivity Response |
| 4 |
| accepted |
EID77249 patients (26 pretreatment tissues available for analysis) with recurrent glioblastomas who were treated with EGFR TKIs were analyzed in this study. Results were confirmed in an independent cohort o… (full text at CIViC) PMID 16282176 · Mellinghoff et al., 2005 · Open in CIViC |
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| Erlotinib + GefitinibSubstitutes | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID1128Expression of EGFRvIII and PTEN was evaluated in 26 patients with glioblastomas treated with erlotinib or gefitinib and no EGFR or Her2/neu kinase domain mutations. 7 patients responded to treatment w… (full text at CIViC) PMID 16282176 · Mellinghoff et al., 2005 · Open in CIViC | civic |
| Rindopepimut | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID971In a Phase II clinical trial, patients with Glioblastoma Multiforme (GBM), positive for EGFR VIII deletion mutation (N=65), were treated with the Rindopepimut cancer vaccine, and standard adjuvant te… (full text at CIViC) PMID 25586468 · Schuster et al., 2015 · Open in CIViC | civic |
| Supports Sensitivity Response |
| 2 |
| accepted |
EID11853In 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 (2 months ol… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC |
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| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID12521In this Swedish population-based study, the authors retrospectively re-evaluated 71 poorly differentiated supratentorial CNS tumors in children, previously diagnosed as CNS-PNETs, to assess their mole… (full text at CIViC) PMID 36895035 · Schepke et al., 2023 · Open in CIViC |
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| Supports Positive |
| 3 |
| rejected |
EID9416Whole exome 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 G34R variant has been r… (full text at CIViC) PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC |
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| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | submitted | EID9610In 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 | EID9817Sturm, 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 | rejected | EID9820Korshunov, et al. (2016) studied 81 central nervous system (CNS) tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblas… (full text at CIViC) PMID 26482474 · Korshunov et al., 2016 · Open in CIViC | civic |
| 〃 | Central Nervous System Embryonal TumorCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | rejected | EID9821Korshunov, 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 |
| 〃 | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID9609In 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 |