Study

Sequencing of Infant high grade gliomas

Study ID Alternative Stable ID Type
EGAS00001003532 Other

Study Description

Infant high grade gliomas appear distinct from their counterparts in older children, indicating that grading may not accurately reflect the biology of these tumours. We have collected 228 cases under 4 years of age, and carried out histological review, methylation profiling (217), custom panel (15) and genome (20)/exome (12) sequencing. After excluding cases representing other established entities or subgroups, we identified 120 cases to be part of an intrinsic spectrum of disease in the infant population. These included those with targetable MAP-kinase alterations, and a large proportion of remaining cases to harbour gene fusions targeting ALK, NTRK1/2/3, ROS1 and MET as their driving alterations, with evidence of efficacy of targeted agents in the clinic. Infant gliomas require a change in diagnostic practise and management.

Study Datasets 3 datasets.

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
EGAD00001005246
Whole genome sequencing of infant high grade gliomas. BAM files of paired end reads aligned to GRCh37 with bwa
Illumina NovaSeq 6000 22
EGAD00001005247
Whole exome sequencing of infant high grade gliomas. BAM files of paired end reads aligned to GRCh37 with bwa
Illumina HiSeq 2000 13
EGAD00001005248
Targeted sequencing of infant high grade gliomas. BAM files of paired end reads aligned to GRCh37 with bwa. This targeted panel covers the exons of 435 genes commonly mutated in high grade gliomas in children.
Illumina MiSeq 16

Who archives the data?

There are no publications available