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Culturing Microglia from the Neonatal and Adult Central Nervous System

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Published on: August 9, 2013

SETD2 mutations in primary central nervous system tumors.

Angela N Viaene¹, Mariarita Santi¹, Jason Rosenbaum²

¹Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Acta Neuropathologica Communications

|November 14, 2018

Summary

SETD2 mutations are present in diverse central nervous system (CNS) tumors, not just high-grade gliomas. These mutations impact H3K36me3 levels, offering new insights for clinical interpretation.

Keywords:

Brain tumor Epigenetics Glioma H3K36me3 Histone SETD2

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Last Updated: Feb 2, 2026

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Published on: August 9, 2013

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Area of Science:

Oncology
Genetics
Neuro-oncology

Background:

Mutations in the SETD2 gene are implicated in various cancers, particularly central nervous system (CNS) tumors.
Previous research linked SETD2 mutations to high-grade gliomas in pediatric and young adult patients.

Purpose of the Study:

To comprehensively investigate the spectrum of SETD2 mutations across a broad range of CNS tumors.
To characterize the clinical and molecular context of SETD2 mutations in different tumor types and patient demographics.

Main Methods:

Next-generation sequencing (NGS) was employed to analyze approximately 640 CNS tumors for SETD2 mutations.
Immunohistochemistry was used to assess H3K36me3 protein levels in SETD2-mutant and wild-type tumors.

Main Results:

Twenty-three SETD2 mutations were identified in 19 primary CNS tumors across various types and locations.
SETD2 mutations were observed in low-grade gliomas, high-grade gliomas, non-glial tumors, and in patients across all age groups.
Recurrent high-grade gliomas showed SETD2 point mutations in subclones with higher mutational burdens, unlike primary tumors.
SETD2-mutant tumors exhibited decreased H3K36me3 staining compared to wild-type controls.

Conclusions:

SETD2 mutations are more widespread across CNS tumors than previously recognized, extending beyond high-grade gliomas in younger patients.
The findings provide a broader understanding of SETD2's role in tumorigenesis and offer a basis for clinical interpretation of these genetic alterations.