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 |