Diffuse Midline Glioma

Sequencing (whole genome or exome) was performed on a series of 26 pediatric patients (1.7 to 13.6 years old), 7 had missense mutations in ACVR1. Two patients with G328E mutation were identified. This… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

In a study sequencing 61 patients (median age 6.3) with diffuse intrinsic pontine glioma (DIPG), 12 variants affecting ACVR1 were observed. Five patients had G328V within the kinase domain. The ACVR1 … (full text at CIViC)

PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

This mutation is found to be present in about 33% of diffuse intrinsic pontine glioma along with 6 other recurrent heterozygous somatic non-synonymous mis-sense mutations in ACVR1. There lacks evidenc… (full text at CIViC)

PMID 26776312 · Pacifici et al., 2016 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

Sequencing of 39 pediatric midline high-grade astrocytomas identified 5 patients with ACVR1 mutations. The authors identified an increase in endogenous phospho-SMAD1/5/8 signal in diffuse intrinsic po… (full text at CIViC)

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

Analysis of 127 paediatric high grade gliomas (HGGs) identified recurrent mutations in ACVR1 exclusively in DIPG. ACVR1 mutations were found in 18 of 57 DIPG tumours (32%) and none of 70 non-brainstem… (full text at CIViC)

PMID 24705251 · Wu et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · 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 (4 yo) with … (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

Diffuse 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

Whole 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

Two 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)

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Molecular 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

Whole-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

The 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

Significant WEE1 protein overexpression was detected by IHC in VUMC-DIPG-1 tissue isolated from a patient's frontal lobe. Significant WEE1 protein levels were also found in E98-FM glioma cells. An i… (full text at CIViC)

PMID 23270927 · Caretti et al., 2013 · Open in CIViC

Two mouse xenograft models were used: one of tumor cells from a genetically engineered mouse with a BRAF V600E mutation, and the other using a patient's DIPG cells (SF8628). SF8628 was found to have … (full text at CIViC)

PMID 24305702 · Mueller et al., 2014 · Open in CIViC