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]

Atypical teratoid/rhabdoid tumors most frequently harbor alterations in SMARCB1 [2].

Most Commonly Altered Genes in Atypical Teratoid/Rhabdoid Tumor

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
Rhabdoid Tumor of CNS, Rhabdoid Tumor of the Central Nervous System, AT/RT, Malignant Rhabdoid Neoplasm of the Brain, Rhabdoid Neoplasm of the Central Nervous System, Primary Malignant Rhabdoid Tumor of the Brain, Central Nervous System Rhabdoid Tumor, Malignant Brain Rhabdoid Neoplasm, Malignant Rhabdoid Neoplasm of Brain, CNS Rhabdoid Neoplasm, Primary Malignant Brain Rhabdoid Neoplasm, Rhabdoid Neoplasm of the CNS, Malignant Rhabdoid Tumor of Brain, Malignant Rhabdoid Tumor of the Brain, Primary Malignant Rhabdoid Neoplasm of Brain, Rhabdoid Tumor of Central Nervous System, Primary Malignant Brain Rhabdoid Tumor, Central Nervous System Rhabdoid Neoplasm, Rhabdoid Tumor of the CNS, CNS Rhabdoid Tumor, Malignant Brain Rhabdoid Tumor, Primary Malignant Rhabdoid Tumor of Brain, ATT/RHT, Atypical Teratoid/Rhabdoid Tumor (WHO Grade IV), Primary Malignant Rhabdoid Neoplasm of the Brain, Rhabdoid Neoplasm of CNS, Rhabdoid Neoplasm of 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 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.