Astrocytoma

The authors used whole exome sequencing on 39 midline pediatric high-grade astrocytomas (pHGAs) and identified 5 with mutations in ACVR1, with 2 occurring at G328 (G328V and G328E). The authors state … (full text at CIViC)

PMID 24705250 · Fontebasso et al., 2014 · Open in CIViC

293 adult cases of low grade gliomas (LGGs) underwent a variety of analyses, including but not limited to exome sequencing (289 samples), copy number profiling (285), mRNA sequencing (277) and sequenc… (full text at CIViC)

PMID 26061751 · 2015, N. Engl. J. Med. · Open in CIViC

Whole exome sequencing of 4 low grade gliomas (LGGs) and targeted sequencing of 28 LGGs revealed ATRX variants are found exclusively in a subset of IDH1-mutant, 1p/19q intact LGGs. Paired blood sample… (full text at CIViC)

PMID 23104868 · Kannan et al., 2012 · Open in CIViC

A retrospective tumor sample study found that the loss of ATRX expression (less than 10% of nuclei) in IDH-mutant astrocytomas treated with temozolomide or a combination of procarbazine, lomustine and… (full text at CIViC)

PMID 23904111 · Wiestler et al., 2013 · 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

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

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 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 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

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

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

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 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

Kleinschmidt-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

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

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 37 years of age anaplastic as… (full text at CIViC)

PMID 28447171 · Yoshimoto et al., 2017 · 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

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

In 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

In 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

In 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

A case report showing a two-year-old girl with an unusual pilocytic astrocytoma (PA) with both classic- and anaplastic- appearing tumors. A custom NGS panel identified a novel KANK1-NTRK2 fusion in bo… (full text at CIViC)

PMID 29804288 · López et al., 2019 · Open in CIViC

Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Whole-genome sequencing of normal (blood) and tumor samples (n=96) was performed along with corresponding RNA-Seq (n=73) and mate-pair… (full text at CIViC)

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

This study identified a novel rearrangement event between the uncharacterized gene KIAA-1549 and BRAF in 66% (29 of 44) of pilocytic astrocytoma but not in 244 higher-grade astrocytomas that were eval… (full text at CIViC)

PMID 18974108 · Jones et al., 2008 · Open in CIViC

Genetic alterations in 96 patients with pilocytic astrocytoma (PA) were evaluated. Two new alterations with double KRAS mutations (p.[Glu63Lys]+[Arg73Met] and p.[Leu19Phe]+[Gln22Lys] ) were observed.

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

The expression of a set of miRNAs was evaluated by qRT-PCR in 124 astrocytoma (grade I-IV) samples and 60 adjacent normal tissue samples in order to determine miRNAs with altered expression in astrocy… (full text at CIViC)

PMID 20219352 · Zhi et al., 2010 · Open in CIViC

Histological, molecular, and clinical analysis of 26 histologically prototypical isomorphic diffuse gliomas with a specific DNA methylation profile distinct from other glial/glio-neuronal brain tumors… (full text at CIViC)

PMID 31563982 · Wefers et al., 2020 · Open in CIViC

Copy-number analysis was performed on 44 diffuse pediatric low-grade gliomas (PLGGs) to identify recurrent alterations. The most significant event, focal 8q13.1 gain, was observed in 28% (5/18) of dif… (full text at CIViC)

PMID 23633565 · Ramkissoon et al., 2013 · Open in CIViC

Comprehensive molecular studies (through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, mutation hotspot analy… (full text at CIViC)

PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC

The study compiled the clinicopathologic and molecular features of 46 gliomas with a MYB or MYBL1 alteration diagnosed at a single center. The tumors showed low-grade histopathologic features and were… (full text at CIViC)

PMID 31595312 · Chiang et al., 2019 · Open in CIViC

A 14.6-year-old male [ID: 6] with a family history of neurofibromatosis type 1 (NF1) affecting both parents and a sibling. The patient was asymptomatic at diagnosis, and a biopsy of the left frontal g… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC