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Sequencing of Infant high grade gliomas

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.

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 Illumina NovaSeq 6000 22
EGAD00001005247 Illumina HiSeq 2000 13
EGAD00001005248 Illumina MiSeq 16
Publications Citations
Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes.
Cancer Discov 10: 2020 942-963