Details of Disease

General Information of Disease (ID: DISQK8F3)

Disease Name	Pineoblastoma
Synonyms	pineal gland primitive neuroectodermal tumor; pineal primitive neuroectodermal tumor; pineoblastoma (WHO grade IV); pineoblastoma; PNET of the pineal gland; primitive neuroectodermal tumour of the pineal gland; primitive neuroectodermal neoplasm of the pineal gland; pineal primitive neuroectodermal tumour; pineal gland PNET; PNET of pineal gland; primitive neuroectodermal tumor of pineal gland; pineoblastoma, malignant; pineal gland primitive neuroectodermal tumour; primitive neuroectodermal neoplasm of pineal gland; pineal primitive neuroectodermal neoplasm; primitive neuroectodermal tumour of pineal gland; pineal PNET; pineal gland primitive neuroectodermal neoplasm; primitive neuroectodermal tumor of the pineal gland
Disease Class	2A00: Brain cancer
Definition	Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
Disease Hierarchy	DIS5MQSB: Embryonal neoplasm DISCPLAG: Pineal gland cancer DISQK8F3: Pineoblastoma
ICD Code	ICD-11 ICD-11: 2A00.20 Expand ICD-11 'XH1ZH1
Disease Identifiers	MONDO ID MONDO_0016722 UMLS CUI C0205898 MedGen ID 104745 HPO ID HP:0030408 Orphanet ID 251909 SNOMED CT ID 31671006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
EGFR806-specific CAR T cell	DM3AD65	Phase 1	CAR T Cell Therapy	[1]
HER2-specific CAR T cell	DMJKBWO	Phase 1	CAR T Cell Therapy	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DICER1	TTTEOPU	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ASMT	DEHGR57	Strong	Biomarker	[4]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRB3	OTQKPTMU	Strong	Altered Expression	[5]
CRX	OTH435SV	Strong	Biomarker	[6]
INSM1	OTG8RV8E	Strong	Biomarker	[7]
NEUROD4	OTGYOIOJ	Strong	Biomarker	[7]
NIBAN1	OTYOLI12	Strong	Biomarker	[8]
PCDHGA3	OTTOGYJA	Strong	Biomarker	[8]
PDE4DIP	OTS15WNF	Strong	Biomarker	[9]
PHOX2B	OT3SFR2O	Strong	Altered Expression	[10]
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⏷ Show the Full List of 8 DOT(s)

References

1	ClinicalTrials.gov (NCT03638167) EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors
2	ClinicalTrials.gov (NCT03500991) HER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors
3	Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.Acta Neuropathol. 2020 Feb;139(2):243-257. doi: 10.1007/s00401-019-02101-0. Epub 2019 Nov 25.
4	Expression of hydroxyindole-O-methyltransferase enzyme in the human central nervous system and in pineal parenchymal cell tumors.J Neuropathol Exp Neurol. 2010 May;69(5):498-510. doi: 10.1097/NEN.0b013e3181db7d3c.
5	Microarray analysis reveals differential gene expression patterns in tumors of the pineal region.J Neuropathol Exp Neurol. 2006 Jul;65(7):675-84. doi: 10.1097/01.jnen.0000225907.90052.e3.
6	CRX is a diagnostic marker of retinal and pineal lineage tumors.PLoS One. 2009 Nov 20;4(11):e7932. doi: 10.1371/journal.pone.0007932.
7	Molecular characterization of central neurocytomas: potential markers for tumor typing and progression.Neuropathology. 2013 Apr;33(2):149-61. doi: 10.1111/j.1440-1789.2012.01338.x. Epub 2012 Jul 23.
8	Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma.Neuro Oncol. 2011 Aug;13(8):866-79. doi: 10.1093/neuonc/nor070.
9	Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.Nat Commun. 2018 Jul 20;9(1):2868. doi: 10.1038/s41467-018-05029-3.
10	PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours.Histopathology. 2018 Sep;73(3):483-491. doi: 10.1111/his.13648. Epub 2018 Jul 4.