Getting Started Checklist

• I have searched through the GitHub issues with the K-ecc tag and ensured that no one has proposed this ECC before (or that it is not already captured in an existing ECC).

Proposed Characteristic Name

H3 K27M mutation

Proposed Characteristic Category

Molecular

Detailed Description

H3 K27 mutation

Characteristics

Mutation Link: K27M/G34, K28M/G35
Assignment: Molecular
Creators: Modupe Adetunji, Van Nguyen
First Discovered: Jeremy Schwartzentruber, Nature 2012

Description

• K27M-H3.3 mutation.
• K27/G34 or K28/G35 mutation.

Evaluation

• Genomics Test (WES, Variant and manual evaluation of H3F3A gene for the K27M)
• Gene expression (Total RNA Profiling).

References

• Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma
• Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas
• The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression
• A sensitive and specific histopathologic prognostic marker for H3F3A K27M mutant pediatric glioblastomas
• H3K27M mutant glioma: Disease definition and biological underpinnings

Status

• Ratification status of the ECC: NULL
• Version number: .01
• Development phase: draft