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 TP53, PTCH1, KMT2D, SMO, and PIK3CA [2].

Most Commonly Altered Genes in Medulloblastoma

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

Top Alterations in Medulloblastoma

Biomarker-Directed Therapies

Significant Genes in Medulloblastoma

APC +

CDK6 +

CTDNEP1 +

CTNNA1 +

CTNNA2 +

CTNNA3 +

CTNNB1 +

DDX3X +

EGFR +

ERBB2 +

ERBB4 +

GLI2 +

H3F3A +

HGF +

IDH1 +

IDH2 +

KDM6A +

KMT2C +

KMT2D +

LRP1B +

MDM4 +

MET +

MLH1 +

MSH2 +

MSH6 +

MYC +

MYCL +

MYCN +

OTX2 +

PMS2 +

PPM1D +

PTCH1 +

PTEN +

PVT1 +

RELA +

SHH +

SMARCA4 +

SMO +

SNCAIP +

SUFU +

TERT +

TP53 +

YAP1 +

ZMYM3 +

Disease Details

Synonyms
MEDULLOBLASTOMA, MALIGNANT, Medulloblastomas
Parent(s)
Malignant Cerebellar Neoplasm
Children
Medulloblastoma with Melanotic Differentiation, Large Cell/Anaplastic Medulloblastoma, Cerebellar Vermis Medulloblastoma, Desmoplastic/Nodular Medulloblastoma, Large Cell Medulloblastoma, Medulloblastoma with Extensive Nodularity, Childhood Medulloblastoma, Adult Medulloblastoma, Medullomyoblastoma with Myogenic Differentiation, and Medulloblastoma, Genetically Defined
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 6. 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.