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Central Nervous System Embryonal Neoplasm
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Associated Genetic Biomarkers
Overview
NCI Definition: A malignant neoplasm of embryonal origin, arising from the central nervous system. It usually affects children. Representative examples include ependymoblastoma, medulloblastoma, and atypical teratoid/rhabdoid tumor. [1]
Central nervous system embryonal neoplasms most frequently harbor alterations in PTCH1, KMT2D, TP53, CTNNB1, and SMO [2].
KMT2D Mutation, TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, and CTNNB1 Mutation are the most common alterations in central nervous system embryonal neoplasm [2].
Significant Genes in Central Nervous System Embryonal Neoplasm
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.