Encapsulated Glioma

Loss of ATRX was identified in 12 of 247 patients with PLGGs using immunohistochemistry. Survival analysis showed that ATRX loss was associated with adverse overall survival (p<0.0001) and progression… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · Open in CIViC

In the STARTRK-NG (NCT02650401) phase 1/2 trial, a 10 year old patient with prior chemotherapy treatment who had Ganglioglioma in the Spine, with a tumor category of low grade glioma, and WHO histolog… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

Genetic alterations in 96 patients with pilocytic astrocytoma (PA) were evaluated. In addition to KIAA1549-BRAF fusions, other BRAF mutations and fusions were identified. Known MAPK activating events… (full text at CIViC)

PMID 23817572 · Jones et al., 2013 · Open in CIViC

Pilocytic astrocytoma (PA) is emerging as a tumor entity with dysregulated Ras/Raf/MEK/ERK signaling. The well-known BRAF(V600E) mutation was found in 6/64 (9.38%) of our samples. Furthermore, 2/64 (3… (full text at CIViC)

PMID 21190184 · Eisenhardt et al., 2011 · Open in CIViC

A pediatric case of ganglioglioma was previously reported (PMID: 29434027) to harbor a BRAF p.T599dup variant (observed at VAF of 5.2%). The patient had a partial resection and was then treated with V… (full text at CIViC)

PMID 33637608 · Miller et al., 2021 · Open in CIViC

This clinical trial used a cohort of 32 pediatric low grade glioma (pLGG) patients. The primary endpoint of this study was objective response rate (ORR). In this study, an ORR of 44% and a 1-year prog… (full text at CIViC)

PMID 31811016 · Hargrave et al., 2019 · Open in CIViC

Using Sanger sequencing, BRAFV600E mutations were identified in 21 of 285 patients with PLGGs (7.4%). This mutation was enriched in hemispheric tumors (p<0.007) and was associated with shorter progres… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · Open in CIViC

This study is part of an ongoing open-label, single-arm, phase 2 Rare Oncology Agnostic Research (ROAR) basket trial enlisting 45 patients (31 with glioblastoma) into the high-grade glioma cohort (oth… (full text at CIViC)

PMID 34838156 · Wen et al., 2022 · Open in CIViC

In this case study, a 28-year-old male with BRAF V600E-mutant anaplastic ganglioglioma was started with vemurafenib at 960 mg twice daily in March 2015 for tumour recurrence despite one surgical resec… (full text at CIViC)

PMID 30120137 · Touat et al., 2018 · Open in CIViC

In this phase II trial on patients with pediatric low-grade glioma were assigned to six unique strata according to histology, tumour location, NF1 status, and BRAF aberration status. This study report… (full text at CIViC)

PMID 31151904 · Fangusaro et al., 2019 · Open in CIViC

In this ongoing phase 2 trial (FIREFLY-1), 76 patients, aged 6 months to 25 years, with pediatric low-grade glioma harbouring BRAF alterations (BRAF fusions or BRAF V600E mutations) were treated with … (full text at CIViC)

PMID 37978284 · Kilburn et al., 2024 · Open in CIViC

In this phase 2 clinical trial, the efficacy of RAF inhibitor tovorafenib (DAY-101) was investigated in patients between the ages of 6 months and 25 years, with pediatric low-grade gliomas harbouring … (full text at CIViC)

PMID 37978284 · Kilburn et al., 2024 · Open in CIViC

CDKN2A deletion was identified in 24 of 273 patients with PLGGs using FISH analysis. An association between this alteration and BRAFV600E was detected (p=0.0001). Hemispheric tumors with CDKN2A deleti… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · Open in CIViC

In a series of 54 supratentorial ependymomas with ZFTA::RELA fusions (termed fusions between C11orf95 and RELA at time of publication), homozygous deletion of CDKN2A was found in 9 cases and hemizygou… (full text at CIViC)

PMID 32514758 · Jünger et al., 2020 · Open in CIViC

In 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 (9 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

From a phase one clinical trial, pediatric patients with refractory CNS malignancies were administered 300-1150 mg/m2 twice daily of ERBB2 and EGFR inhibitor lapatinib. The maximum-tolerated dose was … (full text at CIViC)

PMID 20713864 · Fouladi et al., 2010 · Open in CIViC

This preclinical study proposed to use a combination therapy of an MEK inhibitor (e.g. trametinib) and an mTOR inhibitor (e.g. everolimus) for the treatment of pediatric low-grade gliomas (PLGGs) with… (full text at CIViC)

PMID 29156677 · Jain et al., 2017 · Open in CIViC

This GWAS study identified a structural variant of FGFR1. Duplication of the tyrosine kinase domain (TKD) of FGFR1 was found in 11 of 149 patients (13/151 tumor samples, including 2 recurrent tumors, … (full text at CIViC)

PMID 23583981 · Zhang et al., 2013 · Open in CIViC

Two new recurrent alterations within the kinase domain of FGFR1 in Pilocytic Astrocytoma (PA) were identified. The p.Asn546Lys variant (3 of 96 samples) had been shown in another study to increase kin… (full text at CIViC)

PMID 23817572 · Jones et al., 2013 · Open in CIViC

Case report of a 32-year old male patient with pilocytic astrocytoma. Genomic profiling (FoundationOne) revealed a FGFR1 N546K mutation. The patient was enrolled in a phase I/II trial of pemigatinib a… (full text at CIViC)

PMID 35507888 · Capone et al., 2022 · Open in CIViC

In the phase II NCI-MATCH EAY131-K2 trial, a patient with a WHO grade I dysembryoplastic neuroepithelial tumor harboring an FGFR1-TACC1 fusion had stable disease with a 24.2% maximum reduction in meas… (full text at CIViC)

PMID 38603650 · Gong et al., 2024 · Open in CIViC

Phase II study (NCT02465060) from NCI-MATCH Trial (EAY131) Subprotocol W addressed the use of AZD4547 (an FGFR 1-3 inhibitor) in 48 tumor patients carrying FGFR 1-3 variants. Partial responses were ob… (full text at CIViC)

PMID 32463741 · Chae et al., 2020 · Open in CIViC

FUBP1 truncating mutations occur somatically with high specificity for adult oligodendroglioma and are considered oncogenic in that setting

PMID 21817013 · Bettegowda et al., 2011 · Open in CIViC

In 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

In 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 (8 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

Taylor, 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

Kleinschmidt-DeMasters, et al. (2017) analyzed 14 patient’s (age between 6 days and 62 years) gangliomas (GG). The H3F3A p.K27M variant has been reported in 2 GG: first was from 6 years old female met… (full text at CIViC)

PMID 28378357 · Kleinschmidt-DeMasters et al., 2017 · Open in CIViC

Yoshimoto, 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 51 years of age oligodendrogl… (full text at CIViC)

PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC

Using Sanger sequencing, H3F3A mutations in patients with pediatric low-grade gliomas (PLGGs) were identified (K27M: 13/280; G34R: 5/280). Kaplan-Meier survival analysis showed that H3F3A mutations we… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · Open in CIViC

Taylor, 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

Mariet et al. identified a somatic H3C4 (HIST1H3D) p.Lys28Met (K27M) mutation in a posterior fossa group A ependymoma (EPN_PFA) from an 8-year-old male. The tumor showed H3 K27M immunoreactivity, loss… (full text at CIViC)

PMID 36104744 · Mariet et al., 2022 · Open in CIViC

This phase 3 clinical trial was conducted to assess the progression free survival in patients with IDH-mutant gliomas treated with Vorasidenib, an oral brain-penetrant inhibitor, which showed prelimin… (full text at CIViC)

PMID 37272516 · Mellinghoff et al., 2023 · Open in CIViC

Testing of 98 tumors diagnosed as gangliogliomas identified IDH1 R132H mutations in 8 patients. Mutation was associated with increased risk of recurrence (p=0.0007), malignant transformation and/or de… (full text at CIViC)

PMID 21314850 · Horbinski et al., 2011 · Open in CIViC

In a cohort of 1,010 WHO grade II-III diffuse gliomas assessed by direct sequencing, IDH1 R132H was identified in 103/128 (80.5%) oligodendrogliomas and 111/174 (63.8%) anaplastic oligodendrogliomas. … (full text at CIViC)

PMID 19554337 · Hartmann et al., 2009 · Open in CIViC