Overview

NCI Definition: A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity. [1]

Large cell/anaplastic medulloblastomas most frequently harbor alterations in TP53, CTNNB1, KMT2D, FANCA, and SYNE1 [2].

Most Commonly Altered Genes in Large Cell/Anaplastic Medulloblastoma

TP53 Mutation, CTNNB1 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, and TP53 Exon 7 Mutation are the most common alterations in large cell/anaplastic medulloblastoma [2].

Top Alterations in Large Cell/Anaplastic Medulloblastoma

Significant Genes in Large Cell/Anaplastic Medulloblastoma

APC +

CDK6 +

CTDNEP1 +

CTNNB1 +

DDX3X +

GLI2 +

KDM6A +

KMT2C +

KMT2D +

LRP1B +

MDM4 +

MYC +

MYCL +

MYCN +

OTX2 +

PPM1D +

PTCH1 +

PTEN +

PVT1 +

SHH +

SMARCA4 +

SMO +

SNCAIP +

SUFU +

TERT +

TP53 +

YAP1 +

ZMYM3 +

Disease Details

Parent(s)
Medulloblastoma
OncoTree Name
Large Cell/Anaplastic Medulloblastoma
OncoTree Code
AMBL

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.