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]

Medulloblastomas most frequently harbor alterations in PTCH1, KMT2D, CTNNB1, TP53, and SMO [2].

Most Commonly Altered Genes in Medulloblastoma

KMT2D Mutation, CTNNB1 Mutation, TP53 Mutation, PTCH1 Mutation, and TP53 c.217-c.1178 Missense are the most common alterations in medulloblastoma [2].

Top Alterations in Medulloblastoma

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
Adult Medulloblastoma, Desmoplastic/Nodular Medulloblastoma, Large Cell Medulloblastoma, Medulloblastoma, Genetically Defined, Medulloblastoma with Melanotic Differentiation, Childhood Medulloblastoma, Large Cell/Anaplastic Medulloblastoma, Medullomyoblastoma with Myogenic Differentiation, Medulloblastoma with Extensive Nodularity, and Cerebellar Vermis 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.