Diseases /
Rhabdoid Tumor of the Kidney
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Associated Genetic Biomarkers
Overview
NCI Definition: A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. [1]
Rhabdoid tumor of the kidneys most frequently harbor alterations in SMARCB1, SPEN, RB1, RASA1, and ARID1B [2].
SMARCB1 Mutation, SMARCB1 Loss, SPEN L945fs, SMARCB1fs, and SMARCB1 R201* are the most common alterations in rhabdoid tumor of the kidney [2].
Clinical Trials
Significant Genes in Rhabdoid Tumor of the Kidney
Disease Details
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.