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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.

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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
ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative lengthening of telomeres, and genetic instability.
Mol Cell Oncol 3: 2016 e1167158
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma.
Cancer Cell 32: 2017 520-537.e5
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
NPJ Genom Med 2: 2017 29
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.
Nat Med 24: 2018 1204-1215
ATRX loss in glioma results in dysregulation of cell-cycle phase transition and ATM inhibitor radio-sensitization.
Cell Rep 38: 2022 110216