Overview

NCI Definition: A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course. [1]

Pineoblastomas most frequently harbor alterations in EPHB1, DICER1, CDK12, ATR, and ATM [2].

Most Commonly Altered Genes in Pineoblastoma

EPHB1 V205E, EPHB1 Mutation, CDK12 P1091S, CDK12 Mutation, and ATR Mutation are the most common alterations in pineoblastoma [2].

Top Alterations in Pineoblastoma

Significant Genes in Pineoblastoma

APC +

CDK6 +

CTDNEP1 +

CTNNB1 +

DDX3X +

GLI2 +

H3F3A +

KDM6A +

KMT2C +

KMT2D +

LRP1B +

MDM4 +

MYC +

MYCL +

MYCN +

OTX2 +

PPM1D +

PTCH1 +

PTEN +

PVT1 +

SHH +

SMARCA4 +

SMO +

SNCAIP +

SUFU +

TERT +

TP53 +

YAP1 +

ZMYM3 +

Disease Details

Synonyms
Primitive Neuroectodermal Neoplasm of Pineal Gland, Pineal Gland Primitive Neuroectodermal Neoplasm, Pineal PNET, Primitive Neuroectodermal Tumor of Pineal Gland, Primitive Neuroectodermal Neoplasm of the Pineal Gland, PNET of the Pineal Gland, Pineoblastoma (WHO Grade IV), Primitive Neuroectodermal Tumor of the Pineal Gland, PNET of Pineal Gland, PINEOBLASTOMA, MALIGNANT, Pineal Primitive Neuroectodermal Tumor, Pineal Gland PNET, Pineal Primitive Neuroectodermal Neoplasm, Pineal Gland Primitive Neuroectodermal Tumor
Parent(s)
Pineal Parenchymal Cell Neoplasm
Children
Adult Pineoblastoma
OncoTree Name
Pineoblastoma
OncoTree Code
PBL

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.