Overview

NCI Definition: A malignant neoplasm of embryonal origin, arising from the central nervous system. It usually affects children. Representative examples include ependymoblastoma, medulloblastoma, and atypical teratoid/rhabdoid tumor. [1]

Central nervous system embryonal neoplasms most frequently harbor alterations in TP53, PTCH1, KMT2D, ATM, and PIK3CA [2].

Most Commonly Altered Genes in Central Nervous System Embryonal Neoplasm

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, PTCH1 Mutation, and KMT2D Mutation are the most common alterations in central nervous system embryonal neoplasm [2].

Top Alterations in Central Nervous System Embryonal Neoplasm

Significant Genes in Central Nervous System Embryonal Neoplasm

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
CNS Embryonal Tumor, Embryonal Tumor of the Central Nervous System
Parent(s)
Embryonal Neoplasm
Children
Atypical Teratoid/Rhabdoid Tumor, Medulloblastoma, Central Nervous System Ganglioneuroblastoma, Central Nervous System Neuroblastoma, Medulloepithelioma, Pineoblastoma, Spinal Cord Embryonal Tumor, Not Otherwise Specified, Embryonal Tumor with Multilayered Rosettes, C19MC-Altered, and Embryonal Tumor with Multilayered Rosettes, Not Otherwise Specified
OncoTree Name
Embryonal Tumor
OncoTree Code
EMBT

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.