Associated Genetic Biomarkers

Overview

NCI Definition: A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. [1]

Medulloepitheliomas most frequently harbor alterations in ZFHX3, TP53, POLQ, and PMS1 [2].

Most Commonly Altered Genes in Medulloepithelioma

ZFHX3 D1234N, TP53 c.217-c.1178 Missense, TP53 Mutation, TP53 Missense, and TP53 H178P are the most common alterations in medulloepithelioma [2].

Top Alterations in Medulloepithelioma

Significant Genes in Medulloepithelioma

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
Central Nervous System Medulloepithelioma, Medulloepithelioma, Central Nervous System
Parent(s)
Central Nervous System Embryonal Neoplasm
OncoTree Name
Medulloepithelioma
OncoTree Code
MDEP

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.