Overview

NCI Definition: A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) [1]

Ependymomas most frequently harbor alterations in KMT2D, FANCE, RELA, NF1, and EP300 [2].

Most Commonly Altered Genes in Ependymoma

KMT2D Mutation, FANCE Mutation, RELA Fusion, C11orf95-RELA Fusion, and PTPN11 Mutation are the most common alterations in ependymoma [2].

Top Alterations in Ependymoma

Significant Genes in Ependymoma

APC +

CDK6 +

CTDNEP1 +

CTNNB1 +

DDX3X +

EGFR +

ERBB2 +

ERBB4 +

GLI2 +

H3F3A +

IDH1 +

IDH2 +

KDM6A +

KMT2C +

KMT2D +

LRP1B +

MDM4 +

MLH1 +

MSH2 +

MSH6 +

MYC +

MYCL +

MYCN +

OTX2 +

PMS2 +

PPM1D +

PTCH1 +

PTEN +

PVT1 +

RELA +

SHH +

SMARCA4 +

SMO +

SNCAIP +

SUFU +

TERT +

TP53 +

YAP1 +

ZMYM3 +

Disease Details

Synonyms
Ependymoma, NOS, WHO Grade II Ependymal Tumor, WHO Grade II Ependymal Neoplasm, Ependymoma WHO Grade II, EPENDYMOMA, UNDETERMINED
Parent(s)
WHO Grade II Glioma
Children
Tanycytic Ependymoma, Brain Stem Ependymoma, Cellular Ependymoma, Papillary Ependymoma, Spinal Cord Ependymoma, Brain Ependymoma, and Clear Cell Ependymoma
OncoTree Name
Ependymoma
OncoTree Code
EPM

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.