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 NF1, CHEK2, ARID1B, KMT2D, and FANCE [2].

Most Commonly Altered Genes in Ependymoma

KMT2D Mutation, FANCE Mutation (germline), FANCE Mutation, NF1 Mutation (germline), and NF1 Mutation are the most common alterations in ependymoma [2].

Top Alterations in Ependymoma

Significant Genes in Ependymoma

CDKN2A +

CDKN2B +

ERBB2 +

IDH1 +

IDH2 +

MYCN +

Disease Details

Synonyms
EPENDYMOMA, UNDETERMINED, WHO Grade II Ependymal Neoplasm, WHO Grade II Ependymal Tumor, Ependymoma, NOS
Parent(s)
Ependymal Tumor
Children
Spinal Cord Ependymoma, Papillary Ependymoma, Clear Cell Ependymoma, Brain Stem Ependymoma, Brain Ependymoma, Tanycytic Ependymoma, and Cellular 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 4. 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.