Associated Genetic Biomarkers

Overview

NCI Definition: The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) [1]

Glioblastomas most frequently harbor alterations in PTEN, TP53, CDKN2A, CDKN2B, and EGFR [2].

Most Commonly Altered Genes in Glioblastoma

TP53 Mutation, CDKN2A Loss, CDKN2B Loss, TP53 Missense, and TP53 c.217-c.1178 Missense are the most common alterations in glioblastoma [2].

Top Alterations in Glioblastoma

Significant Genes in Glioblastoma

ABL2 +

ACVR1B +

ALK +

APC +

ASXL1 +

ATM +

ATR +

ATRX +

BLM +

BRAF +

BRCA1 +

BRCA2 +

CDK12 +

CDK4 +

CDK6 +

CDKN1A +

CDKN1B +

CDKN2A +

CDKN2B +

CDKN2C +

CHD4 +

CTDNEP1 +

CTNNB1 +

CYLD +

DDX3X +

DICER1 +

DNMT3A +

EGFR +

ERBB2 +

ERBB3 +

EZH2 +

FGF19 +

FGF9 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

FLT3 +

GATA3 +

GLI2 +

H3F3A +

HGF +

IDH1 +

IDH2 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2C +

KMT2D +

KRAS +

LRP1B +

MAGI2 +

MAP3K1 +

MDM4 +

MED12 +

MET +

MSH2 +

MSH6 +

MYC +

MYCL +

MYCN +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NRAS +

NSD1 +

OTX2 +

PDGFRA +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3R1 +

PPM1D +

PTCH1 +

PTEN +

PTPN11 +

PVT1 +

RB1 +

RELA +

RUNX1 +

SETD2 +

SHH +

SMARCA4 +

SMO +

SNCAIP +

SOX9 +

STAG2 +

SUFU +

TAF1 +

TBX3 +

TERT +

TET2 +

TNFRSF10B +

TP53 +

XPO1 +

YAP1 +

ZMYM3 +

Disease Details

Synonyms
High-Grade Astrocytoma WHO Grade IV, Spongioblastoma Multiforme, Glioblastoma WHO grade IV, grade IV astrocytoma, Glioblastoma Multiforme, Glioblastoma, WHO grade IV, GBM, GBM (Glioblastoma), Grade IV Astrocytic Neoplasm, Grade IV Astrocytic Tumor
Parent(s)
High Grade Astrocytic Tumor
Children
Adult Glioblastoma, Brain Glioblastoma, Small Cell Glioblastoma, Glioblastoma, IDH-Mutant, Glioblastoma, IDH-Wildtype, Conventional Glioblastoma Multiforme, Mesenchymal Glioblastoma, Childhood Glioblastoma, and Proneural Glioblastoma
OncoTree Name
Glioblastoma
OncoTree Code
GB

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.