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 PTCH1, KMT2D, TP53, CTNNB1, and SMO [2].

Most Commonly Altered Genes in Central Nervous System Embryonal Neoplasm

KMT2D Mutation, TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, and CTNNB1 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
Embryonal Tumor of the Central Nervous System, CNS Embryonal Tumor
Parent(s)
Malignant Central Nervous System Neoplasm
Children
Spinal Cord Embryonal Tumor, Not Otherwise Specified, Embryonal Tumor with Multilayered Rosettes, Not Otherwise Specified, Central Nervous System Primitive Neuroectodermal Neoplasm, Central Nervous System Neuroblastoma, Central Nervous System Ganglioneuroblastoma, Pineoblastoma, Medulloepithelioma, Embryonal Tumor with Multilayered Rosettes, C19MC-Altered, Atypical Teratoid/Rhabdoid Tumor, and Medulloblastoma
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 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.