Details of Disease

General Information of Disease (ID: DISCHJE7)

• Disease Name: Chordoma
• Synonyms: chordoma, susceptibility to; susceptibility to chordoma; CHDM; notochordoma; notochordal sarcoma; chordoma (disease); chordoma, malignant; chordoma
• Disease Class: 5A60-5A61: Pituitary gland disorder
• Definition: Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.
• Disease Hierarchy:
  DISOFE4D: Notochordal tumor
  DISCHJE7: Chordoma
• ICD Code:
  ICD-11: ICD-11: 5A61.0
  Expand ICD-11: 'XH9GH0
• Disease Identifiers:
  MONDO ID: MONDO_0008978
  MESH ID: D002817
  UMLS CUI: C0008487
  MedGen ID: 40277
  HPO ID: HP:0010762
  Orphanet ID: 178
  SNOMED CT ID: 1156453008

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
BN-Brachyury	DM4G9AN	Phase 2	Vaccine	[1]
GI-6301	DMOMS7R	Phase 2	Vaccine	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSPG4	TT7MYXI	moderate	Altered Expression	[3]
MTNR1B	TT32JK8	Strong	Biomarker	[4]
TBXT	TTBXAHS	Strong	Autosomal dominant	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A2	DTW78DQ	Strong	Genetic Variation	[6]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LYST	OTIUB1B3	Disputed	Genetic Variation	[7]
ARID4B	OTYLPILE	Strong	Biomarker	[8]
DVL1	OTD67RF1	Strong	Biomarker	[9]
FRS2	OTDMD800	Strong	Genetic Variation	[10]
FUBP1	OT77SC9N	Strong	Altered Expression	[11]
INSM1	OTG8RV8E	Strong	Biomarker	[12]
RDX	OTNSYUN6	Strong	Altered Expression	[13]
RNF144B	OTN7FCDE	Strong	Altered Expression	[14]
SALL3	OTJ2LZKQ	Strong	Biomarker	[15]
SMARCB1	OT2LP7LJ	Strong	Biomarker	[16]
SMR3B	OTL5HNM8	Strong	Biomarker	[17]
STATH	OTQHBHM9	Strong	Biomarker	[18]
TBXT	OTHCO2F0	Strong	Autosomal dominant	[5]
TRIM11	OTMD6IM2	Strong	Biomarker	[19]
TRIP13	OTFM3TI9	Strong	Altered Expression	[20]
TSC1	OTFF4YZ7	Strong	Genetic Variation	[21]
TSC2	OT47LWI9	Strong	Genetic Variation	[21]

References

• [1] ClinicalTrials.gov (NCT03595228) A Phase 2 Trial of BN-Brachyury and Radiation Therapy in Patients With Advanced Chordoma. U.S.National Institutes of Health.
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] CSPG4 as a prognostic biomarker in chordoma.Spine J. 2016 Jun;16(6):722-7. doi: 10.1016/j.spinee.2015.11.059. Epub 2015 Dec 9.
• [4] MTNR1B loss promotes chordoma recurrence by abrogating melatonin-mediated -catenin signaling repression.J Pineal Res. 2019 Sep;67(2):e12588. doi: 10.1111/jpi.12588. Epub 2019 Jun 28.
• [5] A common single-nucleotide variant in T is strongly associated with chordoma. Nat Genet. 2012 Nov;44(11):1185-7. doi: 10.1038/ng.2419. Epub 2012 Oct 14.
• [6] Establishment and detailed functional and molecular genetic characterisation of a novel sacral chordoma cell line, MUG-Chor1.Int J Oncol. 2012 Feb;40(2):443-51. doi: 10.3892/ijo.2011.1235. Epub 2011 Oct 14.
• [7] The driver landscape of sporadic chordoma.Nat Commun. 2017 Oct 12;8(1):890. doi: 10.1038/s41467-017-01026-0.
• [8] ARID4B is a good biomarker to predict tumour behaviour and decide WHO grades in gliomas and meningiomas.J Clin Pathol. 2017 Feb;70(2):162-167. doi: 10.1136/jclinpath-2016-203804. Epub 2016 Jul 22.
• [9] Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis.Int J Cancer. 2003 Nov 10;107(3):493-7. doi: 10.1002/ijc.11421.
• [10] Analysis of the fibroblastic growth factor receptor-RAS/RAF/MEK/ERK-ETS2/brachyury signalling pathway in chordomas.Mod Pathol. 2009 Aug;22(8):996-1005. doi: 10.1038/modpathol.2009.63. Epub 2009 May 1.
• [11] Expression of far upstream element-binding protein 1 correlates with c-Myc expression in sacral chordomas and is associated with tumor progression and poor prognosis.Biochem Biophys Res Commun. 2017 Sep 30;491(4):1047-1054. doi: 10.1016/j.bbrc.2017.08.008. Epub 2017 Aug 3.
• [12] INSM1 expression and its diagnostic significance in extraskeletal myxoid chondrosarcoma.Mod Pathol. 2018 May;31(5):744-752. doi: 10.1038/modpathol.2017.189. Epub 2018 Jan 12.
• [13] MicroRNA expression profiling reveals the potential function of microRNA-31 in chordomas.J Neurooncol. 2013 Nov;115(2):143-51. doi: 10.1007/s11060-013-1211-6. Epub 2013 Aug 3.
• [14] Long non-coding RNA LOC554202 modulates chordoma cell proliferation and invasion by recruiting EZH2 and regulating miR-31 expression.Cell Prolif. 2017 Dec;50(6):e12388. doi: 10.1111/cpr.12388. Epub 2017 Sep 30.
• [15] Transcriptome comparison identifies potential biomarkers of spine and skull base chordomas.Virchows Arch. 2018 Mar;472(3):489-497. doi: 10.1007/s00428-017-2224-x. Epub 2017 Aug 27.
• [16] Chemoradiotherapy for Unresectable INI1-negative Chordoma in a Child.J Pediatr Hematol Oncol. 2020 Jan;42(1):65-68. doi: 10.1097/MPH.0000000000001318.
• [17] Upregulation of metastasis-associated PRL-3 initiates chordoma in zebrafish.Int J Oncol. 2016 Apr;48(4):1541-52. doi: 10.3892/ijo.2016.3363. Epub 2016 Jan 29.
• [18] Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).Int J Cancer. 2005 Sep 1;116(3):487-91. doi: 10.1002/ijc.21006.
• [19] Silencing of TRIM11 suppresses the tumorigenicity of chordoma cells through improving the activity of PHLPP1/AKT.Cancer Cell Int. 2019 Nov 8;19:284. doi: 10.1186/s12935-019-1007-7. eCollection 2019.
• [20] The embryonic transcription factor Brachyury confers chordoma chemoresistance via upregulating CA9.Am J Transl Res. 2018 Mar 15;10(3):936-947. eCollection 2018.
• [21] Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.J Med Genet. 2011 Jul;48(7):444-9. doi: 10.1136/jmg.2010.085092. Epub 2011 Jan 25.