Overview

NCI Definition: An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia. [1]

Significant Genes in Atypical Teratoid/Rhabdoid Tumor

APC +

CDK6 +

CTDNEP1 +

CTNNB1 +

DDX3X +

GLI2 +

H3F3A +

IDH1 +

IDH2 +

KDM6A +

KMT2C +

KMT2D +

LRP1B +

MDM2 +

MDM4 +

MYC +

MYCL +

MYCN +

OTX2 +

PPM1D +

PTCH1 +

PTEN +

PVT1 +

RELA +

SHH +

SMARCA4 +

SMARCB1 +

SMO +

SNCAIP +

SUFU +

TERT +

TET2 +

TP53 +

YAP1 +

ZMYM3 +

Disease Details

Synonyms
Malignant Rhabdoid Tumor of Brain, Malignant Brain Rhabdoid Tumor, ATT/RHT, Malignant Rhabdoid Neoplasm of the Brain, Malignant Rhabdoid Tumor of the Brain, Primary Malignant Rhabdoid Neoplasm of Brain, Central Nervous System Rhabdoid Neoplasm, Primary Malignant Rhabdoid Tumor of the Brain, Atypical Teratoid/Rhabdoid Tumor (WHO Grade IV), AT/RT, CNS Rhabdoid Neoplasm, Rhabdoid Tumor of Central Nervous System, Primary Malignant Rhabdoid Neoplasm of the Brain, Primary Malignant Rhabdoid Tumor of Brain, Rhabdoid Tumor of CNS, CNS Rhabdoid Tumor, Rhabdoid Neoplasm of Central Nervous System, Rhabdoid Neoplasm of the Central Nervous System, Rhabdoid Neoplasm of the CNS, Primary Malignant Brain Rhabdoid Neoplasm, Rhabdoid Tumor of the CNS, Central Nervous System Rhabdoid Tumor, Rhabdoid Neoplasm of CNS, Malignant Rhabdoid Neoplasm of Brain, Primary Malignant Brain Rhabdoid Tumor, Malignant Brain Rhabdoid Neoplasm, Rhabdoid Tumor of the Central Nervous System
Parent(s)
Rhabdoid Tumor
OncoTree Name
Atypical Teratoid/Rhabdoid Tumor
OncoTree Code
ATRT

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.