Details of Disease

General Information of Disease (ID: DISFC18W)

• Disease Name: Central nervous system neoplasm
• Synonyms: tumour of the central nervous system; tumour of CNS; brain/spinal cord tumour; tumour of central nervous system; CNS neoplasm; neoplasm of central nervous system; neoplasm of the central nervous system; central nervous system tumour; tumor of the CNS; neoplasm of CNS; tumor of the central nervous system; central nervous system neoplasm; CNS tumour; brain/spinal cord tumor; CNS tumor; central nervous system neoplasm (disease); tumor of central nervous system; tumour of the CNS; tumor of CNS; central nervous system tumor
• Definition: A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.
• Disease Hierarchy:
  DIS141UP: Nervous system neoplasm
  DISTBY9Z: Tumour
  DISEP2HK: Central and peripheral nervous disease
  DISFC18W: Central nervous system neoplasm
• Disease Identifiers:
  MONDO ID: MONDO_0006130
  MESH ID: D016543
  UMLS CUI: C0085136
  MedGen ID: 88335
  HPO ID: HP:0100006
  SNOMED CT ID: 126951006

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 6 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cisplatin	DMRHGI9	Approved	Small molecular drug	[1]
Cyclophosphamide	DM4O2Z7	Approved	Small molecular drug	[2]
Lomustine	DMMWSUL	Approved	Small molecular drug	[3]
Pegfilgrastim	DM7UP8X	Approved	Small molecular drug	[4]
Topotecan	DMP6G8T	Approved	Small molecular drug	[5]
Vincristine	DMINOX3	Approved	Small molecular drug	[6]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BAP1	TT47RXJ	Limited	Genetic Variation	[7]
AKT3	TTO6SGY	Strong	Genetic Variation	[8]
EPHB2	TTKPV6O	Strong	Biomarker	[9]
IDH1	TTV2A1R	Strong	Biomarker	[10]
KIF26B	TTQWICZ	Strong	Genetic Variation	[11]
MDM4	TT9OUDQ	Strong	Genetic Variation	[8]
MYCN	TT9JBY5	Strong	Biomarker	[12]
NES	TTHZ752	Strong	Altered Expression	[13]
NF2	TTZIK7P	Strong	Genetic Variation	[14]
SMARCA4	TTVQEZS	Strong	Biomarker	[15]
SMYD3	TTKLJYX	Strong	Genetic Variation	[11]
TCL1A	TTUKRDV	Definitive	Biomarker	[16]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A8	DT39AOM	Strong	Genetic Variation	[8]
SLC25A24	DTVAEDK	Strong	Genetic Variation	[11]
SLC35A3	DTB930Q	Strong	Genetic Variation	[11]

This Disease Is Related to 35 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMARCB1	OT2LP7LJ	Limited	Altered Expression	[17]
KAT2A	OTN0W2SW	moderate	Altered Expression	[18]
ACOT11	OTGPB0SM	Strong	Genetic Variation	[11]
AKAP6	OTN59BZS	Strong	Genetic Variation	[8]
BCOR	OTG013AX	Strong	Biomarker	[19]
C2orf80	OTYI7HDO	Strong	Genetic Variation	[8]
DBT	OT4KZ5R9	Strong	Genetic Variation	[11]
ETFA	OTXX61VZ	Strong	Genetic Variation	[8]
GOLGA3	OT27354E	Strong	Genetic Variation	[20]
HEATR3	OTB52FZ4	Strong	Genetic Variation	[8]
HRG	OTPLUFOG	Strong	Genetic Variation	[21]
LMF1	OTOL14ZD	Strong	Genetic Variation	[8]
LRIG1	OTY5HZN5	Strong	Genetic Variation	[8]
LRRC31	OT7VCU13	Strong	Genetic Variation	[22]
MAML2	OT1TSVAR	Strong	Genetic Variation	[8]
NKX2-1	OTCMEJTA	Strong	Biomarker	[23]
NT5C3A	OT67KZJA	Strong	Genetic Variation	[24]
PHLDB1	OTIRCB6I	Strong	Genetic Variation	[8]
POLR2A	OTHJQ1DZ	Strong	Genetic Variation	[20]
POLR3B	OT3FS9MB	Strong	Genetic Variation	[20]
PYGO2	OTZHB2OI	Strong	Altered Expression	[25]
RAVER2	OT0MDL7K	Strong	Genetic Variation	[8]
RHBDF1	OTCQ7UDS	Strong	Genetic Variation	[8]
RTEL1	OTI3PJCT	Strong	Genetic Variation	[8]
SLAMF1	OTBTT3ZQ	Strong	Altered Expression	[26]
STN1	OT8UWRA3	Strong	Genetic Variation	[8]
TRAF5	OTSBTLO0	Strong	Genetic Variation	[11]
APOD	OTT77XW8	Definitive	Biomarker	[27]
EWSR1	OT7SRHV3	Definitive	Genetic Variation	[28]
H3-3B	OT9XHQ3C	Definitive	Genetic Variation	[29]
KIAA1549	OTA5B18F	Definitive	Altered Expression	[30]
MAK	OTEU2G41	Definitive	Biomarker	[9]
OLIG2	OTMCN6D3	Definitive	Biomarker	[31]
PIK3C3	OTLUM9L7	Definitive	Biomarker	[32]
TCL1B	OT4CSO39	Definitive	Biomarker	[16]

References

• [1] Cisplatin FDA Label
• [2] Cyclophosphamide FDA Label
• [3] Lomustine FDA Label
• [4] Pegfilgrastim-induced hyperleukocytosis. Ann Pharmacother. 2007 Sep;41(9):1524-30.
• [5] Topotecan FDA Label
• [6] Vincristine FDA Label
• [7] Integrated Genomic Classification of Melanocytic Tumors of the Central Nervous System Using Mutation Analysis, Copy Number Alterations, and DNA Methylation Profiling.Clin Cancer Res. 2018 Sep 15;24(18):4494-4504. doi: 10.1158/1078-0432.CCR-18-0763. Epub 2018 Jun 11.
• [8] Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.Nat Genet. 2017 May;49(5):789-794. doi: 10.1038/ng.3823. Epub 2017 Mar 27.
• [9] BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variants.J Neuropathol Exp Neurol. 2012 Jan;71(1):66-72. doi: 10.1097/NEN.0b013e31823f2cb0.
• [10] Survival of diffuse astrocytic glioma, IDH1/2 wildtype, with molecular features of glioblastoma, WHO grade IV: a confirmation of the cIMPACT-NOW criteria.Neuro Oncol. 2020 Apr 15;22(4):515-523. doi: 10.1093/neuonc/noz200.
• [11] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.Nat Genet. 2009 Aug;41(8):905-8. doi: 10.1038/ng.408. Epub 2009 Jul 5.
• [12] MYCN amplification predicts poor outcome for patients with supratentorial primitive neuroectodermal tumors of the central nervous system.Neuro Oncol. 2014 Jul;16(7):924-32. doi: 10.1093/neuonc/not302.
• [13] Nestin in gastrointestinal and other cancers: effects on cells and tumor angiogenesis.World J Gastroenterol. 2011 Jan 28;17(4):409-18. doi: 10.3748/wjg.v17.i4.409.
• [14] Molecular alterations of the NF2 gene in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.Oncol Rep. 2017 Dec;38(6):3650-3658. doi: 10.3892/or.2017.6055. Epub 2017 Oct 24.
• [15] Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort.Pediatr Dev Pathol. 2020 Mar-Apr;23(2):132-138. doi: 10.1177/1093526619869154. Epub 2019 Aug 12.
• [16] Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.Acta Neuropathol. 2020 Mar;139(3):583-596. doi: 10.1007/s00401-019-02102-z. Epub 2019 Nov 28.
• [17] INI1/SMARCB1-Deficient Carcinoma (Rhabdoid Tumor) of the Lacrimal Gland.Ophthalmic Plast Reconstr Surg. 2019 Mar/Apr;35(2):e41-e43. doi: 10.1097/IOP.0000000000001311.
• [18] Expression of PCAF, p300 and Gcn5 and more highly acetylated histone H4 in pediatric tumors.J Exp Clin Cancer Res. 2007 Jun;26(2):269-76.
• [19] High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis.Brain Pathol. 2020 Jan;30(1):46-62. doi: 10.1111/bpa.12747. Epub 2019 Jun 10.
• [20] Genome-wide association study identifies multiple susceptibility loci for glioma.Nat Commun. 2015 Oct 1;6:8559. doi: 10.1038/ncomms9559.
• [21] Leukocyte Differentiation by Histidine-Rich Glycoprotein/Stanniocalcin-2 Complex Regulates Murine Glioma Growth through Modulation of Antitumor Immunity.Mol Cancer Ther. 2018 Sep;17(9):1961-1972. doi: 10.1158/1535-7163.MCT-18-0097. Epub 2018 Jun 26.
• [22] Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.Nat Genet. 2014 Jul;46(7):731-5. doi: 10.1038/ng.3004. Epub 2014 Jun 8.
• [23] Pituicytoma: Review of commonalities and distinguishing features among TTF-1 positive tumors of the central nervous system.Ann Diagn Pathol. 2017 Aug;29:57-61. doi: 10.1016/j.anndiagpath.2017.05.004. Epub 2017 May 11.
• [24] Germline mutations in the p73 gene do not predispose to familial prostate-brain cancer.Prostate. 2001 Sep 15;48(4):292-6. doi: 10.1002/pros.1109.
• [25] Immunohistochemistry analysis of Pygo2 expression in central nervous system tumors.J Cell Commun Signal. 2019 Mar;13(1):75-84. doi: 10.1007/s12079-018-0476-0. Epub 2018 Jul 5.
• [26] Expression of CD150 in tumors of the central nervous system: identification of a novel isoform.PLoS One. 2015 Feb 24;10(2):e0118302. doi: 10.1371/journal.pone.0118302. eCollection 2015.
• [27] Differential expression between pilocytic and anaplastic astrocytomas: identification of apolipoprotein D as a marker for low-grade, non-infiltrating primary CNS neoplasms.J Neuropathol Exp Neurol. 2002 Mar;61(3):275-81. doi: 10.1093/jnen/61.3.275.
• [28] Intracranial Ewing sarcoma: four pediatric examples.Childs Nerv Syst. 2018 Mar;34(3):441-448. doi: 10.1007/s00381-017-3684-7. Epub 2017 Dec 28.
• [29] H3F3A K27M mutation in pediatric CNS tumors: a marker for diffuse high-grade astrocytomas.Am J Clin Pathol. 2013 Mar;139(3):345-9. doi: 10.1309/AJCPABOHBC33FVMO.
• [30] Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549-BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification.J Cancer Res Clin Oncol. 2016 Jan;142(1):89-100. doi: 10.1007/s00432-015-2006-2. Epub 2015 Jun 27.
• [31] OLIG2 is a useful immunohistochemical marker in differential diagnosis of clear cell primary CNS neoplasms.Histopathology. 2007 Feb;50(3):365-70. doi: 10.1111/j.1365-2559.2007.02614.x.
• [32] Effect of early-stage autophagy inhibition in BRAF(V600E) autophagy-dependent brain tumor cells.Cell Death Dis. 2019 Sep 12;10(9):679. doi: 10.1038/s41419-019-1880-y.