Associated Genetic Biomarkers

Overview

NCI Definition: A WHO grade III malignant glioma of ependymal origin with accelerated growth and an unfavorable clinical outcome, particularly in children. It is characterized by high mitotic activity, often accompanied by microvascular proliferation and pseudo-palisading necrosis. (Adapted from WHO) [1]

Anaplastic ependymomas most frequently harbor alterations in CDKN2A and TP53 [2].

Most Commonly Altered Genes in Anaplastic Ependymoma

TP53 c.217-c.1178 Missense, TP53 Mutation, and TP53 Missense are the most common alterations in anaplastic ependymoma [2].

Top Alterations in Anaplastic Ependymoma

Significant Genes in Anaplastic Ependymoma

APC +

CDK6 +

CTDNEP1 +

CTNNB1 +

DDX3X +

GLI2 +

H3F3A +

IDH1 +

IDH2 +

KDM6A +

KMT2C +

KMT2D +

LRP1B +

MDM4 +

MYC +

MYCL +

MYCN +

OTX2 +

PPM1D +

PTCH1 +

PTEN +

PVT1 +

RELA +

SHH +

SMARCA4 +

SMO +

SNCAIP +

SUFU +

TERT +

TP53 +

YAP1 +

ZMYM3 +

Disease Details

Synonyms
Malignant Ependymoma, Undifferentiated Ependymal Tumor, Anaplastic Ependymal Neoplasm, Anaplastic Ependymal Tumor, WHO Grade III Ependymal Neoplasm, Undifferentiated Ependymoma, WHO Grade III Ependymal Tumor, Undifferentiated Ependymal Neoplasm
Parent(s)
Ependymal Tumor
Children
Adult Anaplastic Ependymoma
OncoTree Name
Anaplastic Ependymoma
OncoTree Code
APE

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 6. 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.