Overview

NCI Definition: An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. [1]

Rhabdoid tumors most frequently harbor alterations in SMARCB1, ZFHX3, WHSC1, NTRK1, and ZFHX4 [2].

Most Commonly Altered Genes in Rhabdoid Tumor

SMARCB1 Loss, SMARCB1 Mutation, ZFHX4 P2061del, ZFHX4 P2049P, and ZFHX3 R237R are the most common alterations in rhabdoid tumor [2].

Top Alterations in Rhabdoid Tumor

Significant Genes in Rhabdoid Tumor

ARAF +

BRAF +

CRKL +

HRAS +

KRAS +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

NF1 +

NRAS +

RAF1 +

SMARCA4 +

SMARCB1 +

SRC +

SS18 +

SSX1 +

SSX2 +

SSX4 +

Disease Details

Synonyms
Rhabdoid Sarcoma
Parent(s)
Embryonal Neoplasm
Children
Extrarenal Rhabdoid Tumor, Atypical Teratoid/Rhabdoid Tumor, and Rhabdoid Tumor of the Kidney

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 4. 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.