Nervous System Neoplasm

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

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

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 the same Children's Oncology Group analysis of 242 pretherapy high-risk neuroblastoma tumours from the phase III ANBL0532 trial (NCT00567567), ALK amplification was detected in 8 tumours (3.3%) by … (full text at CIViC)

PMID 40036726 · Berko et al., 2025 · Open in CIViC

The MYCN amplification positive relapsed neuroblastoma-derived cell line CLB-BAR contains the driver ALK DEL 11-14 mutation, which removes extracellular domain exons 4 through 11. Brigatinib treatment… (full text at CIViC)

PMID 27049722 · Siaw et al., 2016 · Open in CIViC

Two patients with IDH wild-type, MGMT promoter unmethylated glioblastoma were treated with crizotinib. Patient 1 had weak expression of ALK in 25% of tumor tissue and polysomy of ALK in 53% of nuclei;… (full text at CIViC)

PMID 26498130 · Le Rhun et al., 2015 · Open in CIViC

CH5424802 (Alectinib) is effective in inhibiting the activity of the F1174L ALK mutant in a kinase activity assay and proliferation assay using neuroblastoma KELLY cells.

PMID 21575866 · Sakamoto et al., 2011 · Open in CIViC

SH-SY5Y and Kelly cells with mutant ALK (F1174L) and Ba/F3 cells overexpressing ALK harboring the F1174L mutation are sensitive to TAE684-mediated growth inhibition.

PMID 18923525 · George et al., 2008 · Open in CIViC

The SH-SY5Y neuroblastoma cell line containing the F1174L ALK mutation was found to undergo cell death when treated with the ALK/IGF1R inhibitor AZD3463. These cells were more sensitive than other neu…

A participant in Children's Oncology Group (COG) study AVDL0912 with measurable neuroblastoma mutated at ALK F1245C was administered crizotinib at 100mg twice daily. The patient showed progressive di… (full text at CIViC)

PMID 23598171 · Mossé et al., 2013 · Open in CIViC

Patient derived xenografts of neuroblastoma Felix cells with F1245C ALK mutation in CB17 SCID mice showed growth inhibition with crizotinib treatment over control, and mice had improved duration of ev… (full text at CIViC)

PMID 26554404 · Infarinato et al., 2016 · Open in CIViC

From a total of 90 patients -54 boys and 36 girls- one case presented with F1245V mutation in primary neuroblastoma tumor, specimens obtained during surgery or biopsy were subjected to copy number sta… (full text at CIViC)

PMID 22085494 · Bagci et al., 2012 · Open in CIViC

Clinical trial of entrectinib in patients with ALK/ROS/TRK altered tumors. One patient with an ALK F1245V-mutant neuroblastoma achieved a durable, confirmed partial response (PR) lasting 8.3 months. T… (full text at CIViC)

PMID 28183697 · Drilon et al., 2017 · Open in CIViC

A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including G1128A… (full text at CIViC)

PMID 18724359 · Mossé et al., 2008 · Open in CIViC

A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including G1128A… (full text at CIViC)

PMID 18724359 · Mossé et al., 2008 · Open in CIViC

This case reports a 16-mo-old boy with metastatic neuroblastoma (stage M). Genomic analysis of a diagnostic biopsy of the tumor and matched normal identified two germline mutations in FANCA and somati… (full text at CIViC)

PMID 29907598 · Guan et al., 2018 · Open in CIViC

In a Children's Oncology Group correlative study, 242 pretherapy tumours from patients enrolled on the phase III high-risk neuroblastoma trial ANBL0532 (NCT00567567) underwent ultra-deep targeted sequ… (full text at CIViC)

PMID 40036726 · Berko et al., 2025 · Open in CIViC

A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC)

PMID 18724359 · Mossé et al., 2008 · Open in CIViC

A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC)

PMID 18724359 · Mossé et al., 2008 · Open in CIViC

A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1275Q… (full text at CIViC)

PMID 18724359 · Mossé et al., 2008 · Open in CIViC

The SMS-KCNR cell line harboring the R1275Q mutation was resistant to TAE684.

PMID 18923525 · George et al., 2008 · Open in CIViC

This study identified previously unknown mutations in the ALK gene in 8% (7/93) of primary neuroblastomas and neuroblastoma cell lines (6/30). R1275Q was found in the germline of one patient sample an…

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

This retrospective study analyzed the role of ASCL1 expression in the overall prognosis of patients with atypical teratoid rhabdoid tumors. ASCL1 expression was found to correlate with superior 5-year… (full text at CIViC)

PMID 25882982 · Torchia et al., 2015 · Open in CIViC

Glioblastoma cell lines were shown to have increased sensitivity to Temozolomide when siRNA-induced ATM knockdown was applied.

PMID 23960094 · Eich et al., 2013 · Open in CIViC