Associated Genetic Biomarkers

Overview

NCI Definition: A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. [1]

Biomarker-Directed Therapies

Significant Genes in Medulloblastoma

APC +

ATM +

ATR +

BARD1 +

BRCA1 +

BRCA2 +

BRIP1 +

CDK12 +

CDK6 +

CHEK1 +

CHEK2 +

CTDNEP1 +

CTNNA1 +

CTNNA2 +

CTNNA3 +

CTNNB1 +

DDX3X +

EGFR +

ERBB2 +

ERBB4 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

GLI2 +

H3F3A +

HGF +

IDH1 +

IDH2 +

KDM6A +

KMT2C +

KMT2D +

LRP1B +

MCPH1 +

MDM4 +

MET +

MLH1 +

MRE11A +

MSH2 +

MSH6 +

MYC +

MYCL +

MYCN +

NBN +

OTX2 +

PALB2 +

PMS2 +

PPM1D +

PTCH1 +

PTEN +

PVT1 +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RELA +

SHH +

SLX4 +

SMARCA4 +

SMO +

SNCAIP +

SUFU +

TERT +

TP53 +

YAP1 +

ZMYM3 +

Disease Details

Synonyms
Medulloblastomas, MEDULLOBLASTOMA, MALIGNANT
Parent(s)
Primary Brain Neoplasm
Children
Medulloblastoma with Melanotic Differentiation, Medullomyoblastoma with Myogenic Differentiation, Medulloblastoma, Genetically Defined, Medulloblastoma with Extensive Nodularity, Large Cell Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Cerebellar Vermis Medulloblastoma, Large Cell/Anaplastic Medulloblastoma, and Desmoplastic/Nodular Medulloblastoma
OncoTree Name
Medulloblastoma
OncoTree Code
MBL

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.