Details of Disease

Disease Name

Primitive neuroectodermal tumor

neuroepithelioma; PNET; primitive neuroectodermal tumour (PNET); neuroectodermal tumor; neuroectodermal tumour; neuroectodermal neoplasm; primitive neuroectodermal neoplasm; primitive neuroectodermal tumor; primitive neuroectodermal tumor (PNET)

Definition

A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.|Editor note: TODO check relationship to neuroepithelioma

Disease Hierarchy

DISCYKLP: Neuroepithelial neoplasm

DIS5MQSB: Embryonal neoplasm

DISFHXHA: Primitive neuroectodermal tumor

Disease Identifiers

MONDO ID

MONDO_0005462

MESH ID

D018242

UMLS CUI

C0206663

MedGen ID

64627

HPO ID

HP:0030065

SNOMED CT ID

39781001

General Information of Disease (ID: DISFHXHA)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cisplatin	DMRHGI9	Approved	Small molecular drug	[1]
Lomustine	DMMWSUL	Approved	Small molecular drug	[2]
Vincristine	DMINOX3	Approved	Small molecular drug	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ASPH	TT2KHP7	moderate	Biomarker	[4]
CLDN6	TTKSV48	moderate	Biomarker	[5]
GIPR	TTYMKBE	moderate	Altered Expression	[6]
MELTF	TT8OBT3	moderate	Biomarker	[7]
PCSK2	TT46F0P	moderate	Altered Expression	[8]
STK33	TTP34DQ	moderate	Altered Expression	[9]
CCK	TT90CMU	Strong	Altered Expression	[10]
GCGR	TT9O6WS	Strong	Biomarker	[11]
NOTCH2	TT82FVD	Strong	Biomarker	[12]
PON1	TT9LX82	Strong	Biomarker	[13]
SMO	TT8J1S3	Strong	Altered Expression	[14]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ASMT	DEHGR57	moderate	Biomarker	[15]
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This Disease Is Related to 36 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABR	OTZQK8JF	moderate	Biomarker	[16]
ADGRF3	OTR8JBEW	moderate	Altered Expression	[6]
BHLHE22	OTZUQY5L	moderate	Biomarker	[17]
BTRC	OT2EZDGR	moderate	Altered Expression	[18]
CAPS	OTC9GZ2M	moderate	Biomarker	[19]
CHGB	OT7SAQT2	moderate	Altered Expression	[20]
INSM1	OTG8RV8E	moderate	Biomarker	[21]
MCF2	OTB9N93T	moderate	Genetic Variation	[22]
NOSIP	OTQTNFPJ	moderate	Altered Expression	[23]
NT5C3A	OT67KZJA	moderate	Altered Expression	[24]
SMARCA5	OT5GR4Z2	moderate	Genetic Variation	[25]
SSR1	OTQ6GDL2	moderate	Altered Expression	[26]
SSR2	OTQJSL7M	moderate	Biomarker	[26]
TLX1	OTVN0MNW	moderate	Altered Expression	[27]
BCOR	OTG013AX	Strong	Genetic Variation	[28]
CD99	OTPUZ5DE	Strong	Biomarker	[17]
CHGA	OTXYX5JH	Strong	Biomarker	[29]
CHP1	OTHTXN1A	Strong	Biomarker	[30]
CLDN10	OT2CVAKY	Strong	Biomarker	[31]
DNAJC15	OTNDUKAA	Strong	Posttranslational Modification	[32]
ENO2	OTRODL0T	Strong	Biomarker	[33]
FLI1	OT0EV3LX	Strong	Altered Expression	[34]
FLII	OT7G9JG6	Strong	Altered Expression	[34]
HES1	OT8P19W2	Strong	Biomarker	[12]
HEY1	OTJQL0I3	Strong	Biomarker	[12]
INA	OT1D33T4	Strong	Altered Expression	[35]
NEUROD2	OTJMMX9K	Strong	Altered Expression	[31]
NEUROG1	OTMJZP9G	Strong	Biomarker	[31]
PHF5A	OTS94JFM	Strong	Biomarker	[36]
PMS2	OTNLWTMI	Strong	Biomarker	[37]
PTCH1	OTMG07H5	Strong	Biomarker	[38]
RHOV	OTW4N3QN	Strong	Biomarker	[30]
SCG2	OTXWUQQL	Strong	Biomarker	[39]
SMARCB1	OT2LP7LJ	Strong	Altered Expression	[40]
SMS	OT8JYKNH	Strong	Biomarker	[41]
SYP	OTFJKMO4	Strong	Biomarker	[17]
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⏷ Show the Full List of 36 DOT(s)

References

1	Cisplatin FDA Label
2	Lomustine FDA Label
3	Vincristine FDA Label
4	Role of the aspartyl-asparaginyl-beta-hydroxylase gene in neuroblastoma cell motility.Lab Invest. 2002 Jul;82(7):881-91. doi: 10.1097/01.lab.0000020406.91689.7f.
5	Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors.Brain Pathol. 2010 Jan;20(1):140-50. doi: 10.1111/j.1750-3639.2008.00255.x. Epub 2009 Feb 9.
6	GIPR expression in gastric and duodenal neuroendocrine tumors.J Surg Res. 2014 Aug;190(2):587-93. doi: 10.1016/j.jss.2014.01.044. Epub 2014 Jan 29.
7	Identification of distinct changes in gene expression after modulation of melanoma tumor antigen p97 (melanotransferrin) in multiple models in vitro and in vivo.Carcinogenesis. 2007 Oct;28(10):2172-83. doi: 10.1093/carcin/bgm096. Epub 2007 Apr 21.
8	Neuroendocrine protein 7B2 is essential for proteolytic conversion and activation of proprotein convertase 2 in vivo.DNA Cell Biol. 1998 Dec;17(12):1017-29. doi: 10.1089/dna.1998.17.1017.
9	STK33 Promotes the Growth and Progression of Human Pancreatic Neuroendocrine Tumour via Activation of the PI3K/AKT/mTOR Pathway.Neuroendocrinology. 2020;110(3-4):307-320. doi: 10.1159/000501829. Epub 2019 Jul 2.
10	Processing, release and metabolism of cholecystokinin in SK-N-MCIXC cells.Neuropeptides. 1993 Jul;25(1):19-30. doi: 10.1016/0143-4179(93)90064-h.
11	The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.Mol Genet Metab Rep. 2018 Oct 2;17:46-52. doi: 10.1016/j.ymgmr.2018.09.006. eCollection 2018 Dec.
12	Inhibition of notch signaling blocks growth of glioblastoma cell lines and tumor neurospheres.Genes Cancer. 2010 Aug;1(8):822-35. doi: 10.1177/1947601910383564.
13	Risk of brain tumors in children and susceptibility to organophosphorus insecticides: the potential role of paraoxonase (PON1).Environ Health Perspect. 2005 Jul;113(7):909-13. doi: 10.1289/ehp.7680.
14	Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.Cancer Res. 1998 May 1;58(9):1798-803.
15	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.
16	Deletion within the D17S34 locus in a primitive neuroectodermal tumor.Cancer Res. 1997 Jan 1;57(1):32-4.
17	Malignant glioma with primitive neuroectodermal tumor-like component (MG-PNET): novel microarray findings in a pediatric patient.Clin Neuropathol. 2016 Nov/Dec;35(6):353-367. doi: 10.5414/NP300942.
18	Absence of detectable alterations in the putative tumor suppressor gene BTRC in cerebellar medulloblastomas and cutaneous basal cell carcinomas.Acta Neuropathol. 2003 Oct;106(4):287-90. doi: 10.1007/s00401-003-0745-7. Epub 2003 Jul 24.
19	Identification of novel biomarkers in pediatric primitive neuroectodermal tumors and ependymomas by proteome-wide analysis.J Neuropathol Exp Neurol. 2007 Jun;66(6):505-16. doi: 10.1097/01.jnen.0000240475.35414.c3.
20	Altered PTEN, ATRX, CHGA, CHGB, and TP53 expression are associated with aggressive VHL-associated pancreatic neuroendocrine tumors.Horm Cancer. 2013 Jun;4(3):165-75. doi: 10.1007/s12672-013-0134-1. Epub 2013 Jan 30.
21	INSM1 promoter-driven adenoviral herpes simplex virus thymidine kinase cancer gene therapy for the treatment of primitive neuroectodermal tumors.Hum Gene Ther. 2009 Nov;20(11):1308-18. doi: 10.1089/hum.2008.168.
22	Expression of the dbl proto-oncogene in Ewing's sarcomas.Oncogene. 1989 Jul;4(7):897-900.
23	Nitric oxide synthase (NOS)-interacting protein interacts with neuronal NOS and regulates its distribution and activity.J Neurosci. 2004 Nov 17;24(46):10454-65. doi: 10.1523/JNEUROSCI.2265-04.2004.
24	Modulation of p36 gene expression in human neuronal cells.J Neurol Sci. 1995 Feb;128(2):122-33. doi: 10.1016/0022-510x(94)00218-d.
25	A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor.Mod Pathol. 2011 Mar;24(3):333-42. doi: 10.1038/modpathol.2010.201. Epub 2010 Nov 26.
26	Differential expression of somatostatin receptors, P44/42 MAPK, and mTOR activation in medulloblastomas and primitive neuroectodermal tumors.Appl Immunohistochem Mol Morphol. 2013 Dec;21(6):532-8. doi: 10.1097/PAI.0b013e3182813724.
27	Specific alternative HOX11 transcripts are expressed in paediatric neural tumours and T-cell acute lymphoblastic leukaemia.Gene. 2003 Dec 24;323:89-99. doi: 10.1016/j.gene.2003.09.001.
28	CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue.Brain Pathol. 2018 Sep;28(5):710-720. doi: 10.1111/bpa.12585. Epub 2017 Dec 28.
29	The impact of surgery for metastatic pancreatic neuroendocrine tumor: a contemporary evaluation matching for chromogranin a level.HPB (Oxford). 2020 Jan;22(1):83-90. doi: 10.1016/j.hpb.2019.05.011. Epub 2019 Jun 22.
30	Caspase inhibition shifts neuroepithelioma cell response to okadaic acid from apoptosis to an apoptotic-like form of death.Biochem Biophys Res Commun. 2003 Apr 4;303(2):469-74. doi: 10.1016/s0006-291x(03)00358-9.
31	Expression of neurogenic basic helix-loop-helix genes in primitive neuroectodermal tumors.Cancer Res. 1997 Aug 15;57(16):3526-31.
32	Epigenetic inactivation of MCJ (DNAJD1) in malignant paediatric brain tumours.Int J Cancer. 2006 Jan 15;118(2):346-52. doi: 10.1002/ijc.21353.
33	Combined test of serum CgA and NSE improved the power of prognosis prediction of NF-pNETs.Endocr Connect. 2018 Jan;7(1):169-178. doi: 10.1530/EC-17-0276. Epub 2017 Nov 30.
34	ZBTB16: A new biomarker for primitive neuroectodermal tumor element / Ewing sarcoma.Pathol Res Pract. 2019 Oct;215(10):152536. doi: 10.1016/j.prp.2019.152536. Epub 2019 Jul 13.
35	-Internexin: a novel biomarker for pancreatic neuroendocrine tumor aggressiveness.J Clin Endocrinol Metab. 2014 May;99(5):E786-95. doi: 10.1210/jc.2013-2874. Epub 2014 Jan 31.
36	Integrated genomics has identified a new AT/RT-like yet INI1-positive brain tumor subtype among primary pediatric embryonal tumors.BMC Med Genomics. 2015 Jun 25;8:32. doi: 10.1186/s12920-015-0103-3.
37	Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.Am J Hum Genet. 2004 May;74(5):954-64. doi: 10.1086/420796. Epub 2004 Apr 7.
38	Protective role of 17 -estradiol on medulloblastoma development in Patched 1 heterozygous mice.Int J Cancer. 2010 Dec 15;127(12):2749-57. doi: 10.1002/ijc.25293.
39	Neuroendocrine differentiation in Ewing's sarcomas and primitive neuroectodermal tumors revealed by reverse transcriptase-polymerase chain reaction of chromogranin mRNA.Diagn Mol Pathol. 1998 Feb;7(1):36-43. doi: 10.1097/00019606-199802000-00007.
40	Loss of INI1 protein expression defines a subgroup of aggressive central nervous system primitive neuroectodermal tumors.Brain Pathol. 2013 Jan;23(1):19-27. doi: 10.1111/j.1750-3639.2012.00610.x. Epub 2012 Jun 25.
41	Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs.Genomics. 1997 May 15;42(1):1-10. doi: 10.1006/geno.1997.4707.