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

Most Commonly Altered Genes in Medulloblastoma

TP53 Mutation, PTCH1 Mutation (germline), PTCH1 Mutation, TP53 c.217-c.1178 Missense, and TP53 c.142-c.212 Missense are the most common alterations in medulloblastoma [2].

Top Alterations in Medulloblastoma

Biomarker-Directed Therapies

Significant Genes in Medulloblastoma

CTNNA1 +

CTNNA2 +

CTNNA3 +

CTNNB1 +

EGFR +

ERBB2 +

HGF +

MET +

MYC +

MYCN +

Disease Details

Synonyms
Medulloblastomas, MEDULLOBLASTOMA, MALIGNANT
Parent(s)
Malignant Cerebellar Neoplasm
Children
Large Cell/Anaplastic Medulloblastoma, Adult Medulloblastoma, Childhood Medulloblastoma, Medulloblastoma with Extensive Nodularity, Medullomyoblastoma with Myogenic Differentiation, Large Cell Medulloblastoma, Cerebellar Vermis Medulloblastoma, Medulloblastoma with Melanotic Differentiation, 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 4. 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.