Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
作者： Kristina A. Cole , Patrick Tomboc , Duncan Stearns , Gregory A. Thomas , Alexander Lossos
DOI: 10.1007/S00401-020-02209-8
关键词:
摘要: Replication repair deficiency (RRD) leading to hypermutation is an important driving mechanism of high-grade glioma (HGG) occurring predominantly in the context germline mutations RRD-associated genes. Although HGG presents specific patterns DNA methylation corresponding oncogenic mutations, this has not been well studied replication repair-deficient tumors. We analyzed 51 arising background gene RRD utilizing either 450 k or 850 k arrays. These were compared with known be from patients RRD. harboring secondary genes such as IDH1 and H3F3A displayed a pattern these subgroups. Strikingly, lacking clustered together incompletely described group previously labeled “Wild type-C” “Paediatric RTK 1”. Independent analysis two comparator cohorts showed that other RRD/hypermutant tumors within subgroups, suggesting undiagnosed may some clustering location. unique CpG Island Demethylator Phenotype contrast Methylator cancers. Hypomethylation was enriched at promoters prominent demethylation pathways critical cellular survival including cell cycle, expression, metabolism, organization. data suggest arrays provide diagnostic information for detection HGG. Furthermore, our findings highlight natural selection pressures highly dysregulated, hypermutant cancers novel impact on cancer epigenome.
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