Location specific ACVR1, FGFR1 and TP53 mutations in pediatric glioblastomas in conjunction with H3.3 K27M.
Recurrent somatic H3 K27M mutations characterize midline pediatric high-grade astrocytomas (pHGAs). In 40 treatment-naïve midline pHGAs we find additional somatic mutations specific to tumor location. Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with H3.1K27M, while FGFR1 mutations/fusions occur in thalamic tumors in conjunction with H3.3 K27M. Genetic profiles of pHGA show actionable targets, suggesting that pre-treatment biopsy could effectively orient therapeutic efforts.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples | 
|---|---|---|---|
| EGAD00001000791 | Illumina HiSeq 2000 Illumina HiSeq 2500 | 16 | |
| EGAD00001000792 | Illumina HiSeq 2000 Illumina HiSeq 2500 | 38 | 
| Publications | Citations | 
|---|---|
| Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. Nat Genet 46: 2014 462-466 | 283 | 
| ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative lengthening of telomeres, and genetic instability. Mol Cell Oncol 3: 2016 e1167158 | 32 | 
| Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. Cancer Cell 32: 2017 520-537.e5 | 541 | 
| Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas. NPJ Genom Med 2: 2017 29 | 8 | 
| Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells. Nat Med 24: 2018 1204-1215 | 97 | 
| ATRX loss in glioma results in dysregulation of cell-cycle phase transition and ATM inhibitor radio-sensitization. Cell Rep 38: 2022 110216 | 26 | 
