Chordoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR072 MIFTS: 61	Chordoma Categories: Rare diseases, Cancer diseases, Endocrine diseases
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Aliases & Classifications for Chordoma

MalaCards integrated aliases for Chordoma:

Name: Chordoma ⁵³ ⁷² ⁴⁹ ²⁴ ⁵⁵ ⁷¹ ²⁸ ¹³ ⁵¹ ⁴¹ ⁶⁹

Chdm ⁵³ ²⁴ ⁷¹

Notochordal Sarcoma ²⁴ ⁵⁵

Chordoma, Susceptibility to ⁵³

Chordoepithelioma ²⁴

Chordocarcinoma ²⁴

Notochordoma ²⁴

Characteristics:

Orphanet epidemiological data:

⁵⁵

chordoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (United States); Age of onset: Adult; Age of death: any age;

OMIM:

⁵³

Inheritance:
autosomal dominant

Miscellaneous:
median age at diagnosis, 59 years

HPO:

³¹

chordoma:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Neoplasms

Malignant neoplasms of ill-defined, secondary and unspecified sites

Malignant neoplasm of other and ill-defined sites

Malignant neoplasm of other and ill-defined sites: Other ill-defined sites

Orphanet: ⁵⁵

Rare endocrine diseases

External Ids:

OMIM ⁵³ 215400

Orphanet ⁵⁵ ORPHA178

MESH via Orphanet ⁴² D002817

UMLS via Orphanet ⁷⁰ C0008487

ICD10 via Orphanet ³³ C76.7

MedGen ³⁹ C0008487

MeSH ⁴¹ D002817

SNOMED-CT via HPO ⁶⁵ 263681008 50007008

UMLS ⁶⁹ C0008487

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Summaries for Chordoma

NIH Rare Diseases : ⁴⁹ A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chordomas typically present in adults between the ages of 40 and 70 and can occur anywhere along the spine. About half of all chordomas occur at the bottom of the spine (sacrum); about one third occur at the base of the skull. The remaining cases of chordomas form in the spine at the level of the neck, chest, or other parts of the lower back. Chordomas grow slowly, extending gradually into the surrounding bone and soft tissue. The actual symptoms depend on the location of the chordoma. A chordoma that occurs at the base of the spine may cause problems with bladder and bowel function. A chordoma at the base of the skull may lead to double vision and headaches. In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordomas in a small set of families. In these families an inheritedduplication of the T gene is associated with an increased risk of developing a chordoma. Duplications of the T gene have also been identified in people with chordoma who have no history of the tumor in their family, but in these cases the changes occur only in the tumor cells and are not inherited. The current treatment is often the surgical removal of the tumor, followed by radiotherapy. Last updated: 8/11/2017

MalaCards based summary : Chordoma, also known as chdm, is related to spinal chordoma and tuberous sclerosis, and has symptoms including abnormality of the vertebral column and abnormality of the head. An important gene associated with Chordoma is CHDM (Chordoma), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Sunitinib and Palbociclib have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and liver, and related phenotypes are Decreased cell migration and behavior/neurological

Genetics Home Reference : ²⁴ A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.

OMIM : ⁵³ Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread (Stepanek et al., 1998). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by McMaster et al., 2011). (215400)

UniProtKB/Swiss-Prot : ⁷¹ Chordoma: Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread.

Wikipedia : ⁷² Chordoma is a rare slow-growing neoplasm thought to arise from cellular remnants of the notochord. The... more...

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Related Diseases for Chordoma

Diseases related to Chordoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 281)

#	Related Disease	Score	Top Affiliating Genes
1	spinal chordoma	33.9	EGFR MET S100B
2	tuberous sclerosis	30.5	GFAP S100B VIM
3	non-functioning pituitary adenoma	30.2	MUC1 S100B
4	rhabdoid meningioma	30.1	GFAP VIM
5	giant cell tumor	30.1	DES MUC1 VIM
6	myoepithelioma	30.1	GFAP S100B VIM
7	chordoid meningioma	29.9	GFAP MUC1 S100B VIM
8	hemangioblastoma	29.9	GFAP MUC1 S100B
9	pleomorphic adenoma	29.9	GFAP MUC1 S100B VIM
10	alveolar soft part sarcoma	29.9	DES MET VIM
11	hemangiopericytoma, malignant	29.9	DES MUC1 S100B VIM
12	epithelioid sarcoma	29.8	KRT7 MUC1 VIM
13	parachordoma	29.8	DES GFAP KRT7 MUC1 VIM
14	adenocarcinoma	29.7	CDKN2A EGFR MET MUC1
15	horner's syndrome	29.7	DES KRT7
16	ependymoma	29.6	EGFR GFAP MUC1 S100B VIM
17	meningioma, familial	29.5	GFAP MUC1 NCAM1 S100B VIM
18	myxopapillary ependymoma	29.5	GFAP MUC1 NCAM1 S100B VIM
19	renal cell carcinoma, nonpapillary	29.3	EGFR KRT7 MET MUC1 VIM
20	neurofibroma	29.2	CDKN2A MUC1 PDGFRA S100B
21	astrocytoma	29.1	CDKN2A EGFR GFAP S100B VIM
22	small cell carcinoma	28.7	EGFR KRT7 NCAM1 PDGFRA
23	chondroid chordoma	12.4
24	clivus chordoma	12.3
25	clivus chondroid chordoma	12.3
26	sacrum chordoma	12.2
27	localized hypertrophic neuropathy	10.6	MUC1 S100B
28	sclerosing perineurioma	10.6	MUC1 S100B
29	hydromyelia	10.5	S100B VIM
30	papillary tumor of the pineal region	10.5	MUC1 VIM
31	bednar tumor	10.5	S100B VIM
32	skin glomus tumor	10.5	DES VIM
33	infantile digital fibromatosis	10.5	DES VIM
34	primary hepatic neuroendocrine carcinoma	10.5	S100B VIM
35	lymphangiomatosis	10.5	DES VIM
36	epithelioid malignant peripheral nerve sheath tumor	10.5	MUC1 S100B
37	spindle cell thymoma	10.5	DES MUC1
38	angiolipoma	10.5	DES VIM
39	gliomatosis peritonei	10.5	DES GFAP
40	breast scirrhous carcinoma	10.5	EGFR MUC1
41	spindle cell lipoma	10.5	DES VIM
42	gemistocytic astrocytoma	10.5	GFAP S100B
43	large cell medulloblastoma	10.5	MET VIM
44	malignant triton tumor	10.5	DES S100B
45	epulis	10.5	DES VIM
46	cervicitis	10.5
47	adenofibroma	10.5	MUC1 VIM
48	epithelioid leiomyosarcoma	10.4	DES VIM
49	aggressive digital papillary adenocarcinoma	10.4	MUC1 S100B
50	dysembryoplastic neuroepithelial tumor	10.4	GFAP S100B

Graphical network of the top 20 diseases related to Chordoma:

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Symptoms & Phenotypes for Chordoma

Symptoms via clinical synopsis from OMIM:

⁵³

SkeletalSkull:
sphenooccipital chordoma
nasopharyngeal chordoma

SkeletalSpine:
vertebral chordoma
sacrococcygeal chordoma

Clinical features from OMIM:

215400

Human phenotypes related to Chordoma:

³¹

#	Description	HPO Source Accession
1	abnormality of the vertebral column ³¹	HP:0000925
2	abnormality of the head ³¹	HP:0000234
3	chordoma ³¹	HP:0010762

GenomeRNAi Phenotypes related to Chordoma according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased cell migration	GR00055-A-1	9.1	EGFR JUP MET MUC1 NCAM1 VIM

MGI Mouse Phenotypes related to Chordoma:

⁴³ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.24	CDKN2A DES GFAP JUP LGALS3 MET
2	cellular	MP:0005384	10.2	CDKN2A DES EGFR GFAP JUP KRT7
3	cardiovascular system	MP:0005385	10.18	VIM CDKN2A DES EGFR GFAP JUP
4	homeostasis/metabolism	MP:0005376	10.15	CDKN2A DES EGFR GFAP JUP KRT7
5	mortality/aging	MP:0010768	10	CDKN2A DES EGFR GFAP JUP LGALS3
6	digestive/alimentary	MP:0005381	9.98	CDKN2A EGFR GFAP LGALS3 MET PDGFRA
7	embryo	MP:0005380	9.95	CDKN2A EGFR JUP MET PDGFRA TBXT
8	integument	MP:0010771	9.87	CDKN2A EGFR JUP LGALS3 PDGFRA S100B
9	muscle	MP:0005369	9.76	JUP MET PDGFRA VIM CDKN2A DES
10	nervous system	MP:0003631	9.65	CDKN2A EGFR GFAP JUP LGALS3 MET
11	respiratory system	MP:0005388	9.17	CDKN2A EGFR JUP LGALS3 MET PDGFRA

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Drugs & Therapeutics for Chordoma

Drugs for Chordoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Sunitinib

Approved, Investigational

Phase 2

341031-54-7, 557795-19-4

5329102

Palbociclib

Approved, Investigational

Phase 2

571190-30-2

5330286 11431660 5005498

nivolumab

Approved

Phase 2,Phase 1

946414-94-4

Trioxsalen

Approved

Phase 2,Phase 1

3902-71-4

5585

Dasatinib

Approved, Investigational

Phase 2

302962-49-8

3062316

Imatinib Mesylate

Phase 2,Phase 1

123596

Protein Kinase Inhibitors

Phase 2,Phase 1

Angiogenesis Inhibitors

Phase 2

Angiogenesis Modulating Agents

Phase 2

Immunosuppressive Agents

Phase 2,Phase 1

Vaccines

Phase 2

Antibodies

Phase 2,Phase 1

Antibodies, Monoclonal

Phase 2,Phase 1

Immunoglobulins

Phase 2,Phase 1

Dermatologic Agents

Phase 2,Phase 1

Dihematoporphyrin Ether

Phase 2,Phase 1

Ether

Phase 2,Phase 1

Hematoporphyrin Derivative

Phase 2,Phase 1

Hematoporphyrins

Phase 2,Phase 1

Photosensitizing Agents

Phase 2,Phase 1

Cobalt

Phase 2

7440-48-4

104729

Pharmaceutical Solutions

Phase 2

Brewer's Yeast

Nutraceutical

Phase 2

lysine

Nutraceutical

Phase 2,Phase 1

Panobinostat

Approved, Investigational

Phase 1

404950-80-7

6918837

Cyclophosphamide

Approved, Investigational

Phase 1

50-18-0, 6055-19-2

2907

Amifostine

Approved, Investigational

Phase 1

20537-88-6

2141

Busulfan

Approved, Investigational

Phase 1

55-98-1

2478

Lenograstim

Approved, Investigational

Phase 1

135968-09-1

Melphalan

Approved

Phase 1

148-82-3

460612 4053

Thiotepa

Approved, Investigational

Phase 1

52-24-4

5453

Histone Deacetylase Inhibitors

Phase 1

Mitogens

Phase 1

Adjuvants, Immunologic

Phase 1

Protective Agents

Phase 1

Alkylating Agents

Phase 1

Antirheumatic Agents

Phase 1

Liver Extracts

Phase 1

Radiation-Protective Agents

Phase 1

Hyaluronic acid

Approved, Vet_approved

9004-61-9

53477741 24759

Povidone

Approved

9003-39-8

Menthol

Approved

2216-51-5

16666

Misonidazole

Investigational

13551-87-6

Blood Substitutes

Plasma Substitutes

Viscosupplements

Anti-Infective Agents

Antiparasitic Agents

Antiprotozoal Agents

Interventional clinical trials:

(show all 42)

#	Name	Status	NCT ID	Phase	Drugs
1	Stereotactic Body Radiotherapy for Head and Neck Tumors	Active, not recruiting	NCT01344356	Phase 4
2	Trial of Proton Versus Carbon Ion Radiation Therapy in Patients With Chordoma of the Skull Base	Recruiting	NCT01182779	Phase 3
3	Proton Radiation for Chordomas and Chondrosarcomas	Unknown status	NCT01449149	Phase 1, Phase 2
4	Efficacy and Safety of Imatinib in Chordoma	Completed	NCT00150072	Phase 2	imatinib
5	Charged Particle RT for Chordomas and Chondrosarcomas of the Base of Skull or Cervical Spine	Completed	NCT00592748	Phase 1, Phase 2
6	Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas	Completed	NCT00474994	Phase 2	sunitinib malate
7	Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases	Completed	NCT00154388	Phase 2	Imatinib mesylate
8	Improvement of Local Control in Skull Base, Spine and Sacral Chordomas Treated by Surgery and Protontherapy Targeting Hypoxic Cells Revealed by [18F]FAZA) PET/CT Tracers	Recruiting	NCT02802969	Phase 2	18F FAZA
9	CDK4/6 Inhibition in Locally Advanced/Metastatic Chordoma	Recruiting	NCT03110744	Phase 2	Palbociclib
10	Ion Irradiation of Sacrococcygeal Chordoma	Recruiting	NCT01811394	Phase 2
11	The National Cancer Institute Opens A Randomized, Double-Blind, Phase 2 Trial of GI-6301 (Yeast-Brachyury Vaccine) Versus Placebo in Combination With Standard of Care Definitive Radiotherapy in Locally Advanced, Unresectable, Chordoma	Recruiting	NCT02383498	Phase 2
12	Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers	Recruiting	NCT03173950	Phase 2	Nivolumab
13	A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma	Recruiting	NCT02601950	Phase 2	Tazemetostat
14	A Phase II Study Evaluating Efficacy and Safety of Regorafenib in Patients With Metastatic Bone Sarcomas	Recruiting	NCT02389244	Phase 2	Regorafenib;Placebo
15	Nivolumab and Ipilimumab in Treating Patients With Rare Tumors	Recruiting	NCT02834013	Phase 2
16	Proton Beam Therapy for Chordoma Patients	Active, not recruiting	NCT00496119	Phase 2
17	Trial of Dasatinib in Advanced Sarcomas	Active, not recruiting	NCT00464620	Phase 2	Dasatinib
18	Photodynamic Therapy (PDT) For Recurrent High Grade Gliomas	Active, not recruiting	NCT01966809	Phase 2	Photofrin photodynamic therapy.
19	Afatinib in Locally Advanced and Metastatic Chordoma	Not yet recruiting	NCT03083678	Phase 2	Afatinib
20	Study of Imatinib, a Platelet-derived Growth Factor Receptor Inhibitor, and LBH589, a Histone Deacetylase Inhibitor, in the Treatment of Newly Diagnosed and Recurrent Chordoma	Unknown status	NCT01175109	Phase 1	Imatinib + LBH589
21	Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate	Completed	NCT01046487	Phase 1	Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
22	Nivolumab With or Without Stereotactic Radiosurgery in Treating Patients With Recurrent, Advanced, or Metastatic Chordoma	Recruiting	NCT02989636	Phase 1
23	A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma	Recruiting	NCT02601937	Phase 1	Tazemetostat
24	HSV1716 in Patients With Non-Central Nervous System (Non-CNS) Solid Tumors	Recruiting	NCT00931931	Phase 1
25	Photodynamic Therapy (PDT) for Recurrent Pediatric Brain Tumors	Recruiting	NCT01682746	Phase 1	Photofrin (porfimer sodium) & photodynamic therapy.
26	Nilotinib With Radiation for High Risk Chordoma	Active, not recruiting	NCT01407198	Phase 1	Nilotinib
27	Safety Study of Intratumoral Injection of Clostridium Novyi-NT Spores to Treat Patients With Solid Tumors That Have Not Responded to Standard Therapies	Active, not recruiting	NCT01924689	Phase 1
28	Amifostine to Protect From Side Effects of PSCT in Treating Patients With Solid Tumors	Terminated	NCT00003926	Phase 1	amifostine trihydrate;busulfan;filgrastim;melphalan;thiotepa
29	Polyvinylpyrrolidone-Sodium Hyaluronate Gel in Reducing Pain From Oral Mucositis in Young Patients With Cancer	Unknown status	NCT00349024		polyvinylpyrrolidone-sodium hyaluronate gel
30	Chordoma Family Study	Completed	NCT00410670
31	Genetic Aspects of Chordoma: A Collaboration With SEER Registries to Identify Chordoma Families	Completed	NCT00341627
32	Hypoxia-positron Emission Tomography (PET) and Intensity Modulated Proton Therapy (IMPT) Dose Painting in Patients With Chordomas	Completed	NCT00713037
33	Proton Therapy for Chordomas and/or Chondrosarcomas	Completed	NCT00797602
34	Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas	Completed	NCT01567046
35	Sacral Chordoma: Surgery Versus Definitive Radiation Therapy in Primary Localized Disease	Recruiting	NCT02986516
36	Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes	Recruiting	NCT01200680
37	A Study of IMRT in Primary Bone and Soft Tissue Sarcoma	Recruiting	NCT02520128
38	Effect of High Doses of Radiation on Bone Structure and Metabolism	Recruiting	NCT02323295
39	High Dose Intensity Modulated Proton Radiation Treatment +/- Surgical Resection of Sarcomas of the Spine, Sacrum and Base of Skull	Active, not recruiting	NCT01346124
40	Stereotactic Body Radiotherapy for Spine Tumors	Active, not recruiting	NCT01347307
41	Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma	Active, not recruiting	NCT00919269
42	Randomized Carbon Ions vs Standard Radiotherapy for Radioresistant Tumors	Not yet recruiting	NCT02838602

Search NIH Clinical Center for Chordoma

Cochrane evidence based reviews: chordoma

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Genetic Tests for Chordoma

Genetic tests related to Chordoma:

#	Genetic test	Affiliating Genes
1	Chordoma ²⁸

Sources

Anatomical Context for Chordoma

MalaCards organs/tissues related to Chordoma:

³⁸

Bone, Lung, Liver, Brain, Bone Marrow, Pituitary, Thyroid

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Publications for Chordoma

Articles related to Chordoma:

(show top 50) (show all 832)

#	Title	Authors	Year
1	Osteosarcoma, Chondrosarcoma, and Chordoma. ( 29220289 )	Whelan J.S....Davis L.E.	2018
2	Clival Chordoma With Brainstem Invasion. ( 29325600 )	Persad A.R.L....Starreveld Y.	2018
3	The Sellar Tumor: Metastasis or Chordoma? ( 29381634 )	Zhou L....Gao L.	2018
4	Analysis of clinical factors and PDGFR-I^ in predicting prognosis of patients with clival chordoma. ( 29303447 )	Zhai Y....Zhang Y.	2018
5	Intradural cervical chordoma with diffuse spinal leptomeningeal spread: case report and review of the literature. ( 29313091 )	Zhang J....Xu W.J.	2018
6	Tumour Volume and Dose Influence Outcome after Surgery and High-dose Photon Radiotherapy for Chordoma and Chondrosarcoma of the Skull Base and Spine. ( 29402600 )	Gatfield E.R....Burnet N.G.	2018
7	Clinicopathologic implications of CD8<sup>+</sup>/Foxp3<sup>+</sup>ratio and miR-574-3p/PD-L1 axis in spinal chordoma patients. ( 29051990 )	Zou M.X....She X.L.	2018
8	SNF5 as a prognostic factor in skull base chordoma. ( 29222701 )	Li M....Zhang Y.	2018
9	A historical recount of chordoma. ( 29393831 )	Sahyouni R....Chen J.W.	2018
10	Cryosurgery in the excision of a giant local recurrent sacral chordoma: a case report and literature review. ( 29372428 )	Pipola V....Gasbarrini A.	2018
11	Removal of a low clival chordoma in a teenager by dorsolateral suboccipital transcondylar approach. ( 28761544 )	Attanayake D....Dias B.	2017
12	First report of clinical responses to immunotherapy in 3 relapsing cases of chordoma after failure of standard therapies. ( 28919999 )	Migliorini D....Dietrich P.Y.	2017
13	T1-Weighted Dynamic Contrast-Enhanced MR Perfusion Imaging Characterizes Tumor Response to Radiation Therapy in Chordoma. ( 28912284 )	Santos P....Lyo J.	2017
14	Clival chordoma: a single-centre outcome analysis. ( 28478512 )	JAogersberg M....Schaller K.	2017
15	Role of intraoperative radiotherapy in the treatment of sacral chordoma. ( 28882523 )	Jullien-Petrelli A.C....GarcA-a-Sabrido J.L.	2017
16	Letter to the Editor concerning "Surgical treatment of sacral chordoma: survival and prognostic factors" by C. Ruosi et al. (Eur Spine J; 2015; 24(Suppl 7):S912-S917. ( 27757683 )	Zou M.X....Li J.	2017
17	Prognostic Factors in Patients With Spinal Chordoma: An Integrative Analysis of 682 Patients. ( 29029249 )		2017
18	Iatrogenic seeding of skull base chordoma following endoscopic endonasal surgery. ( 29271711 )	Fernandes Cabral D.T....Gardner P.A.	2017
19	Chordoma Occurs in Young Children With Tuberous Sclerosis. ( 28498973 )	Dahl N.A....Mulcahy Levy J.M.	2017
20	Long non-coding RNA LOC554202 modulates chordoma cell proliferation and invasion by recruiting EZH2 and regulating miR-31 expression. ( 28963737 )	Ma X....Xia X.	2017
21	Advanced chordoma treated by first-line molecular targeted therapies: Outcomes and prognostic factors. AA retrospective study of the French Sarcoma Group (GSF/GETO) and the Association des Neuro-Oncologues d'Expression FranAsaise (ANOCEF). ( 28478340 )	Lebellec L....Mir O.	2017
22	Afatinib is a new therapeutic approach in chordoma with a unique ability to target EGFR and Brachyury. ( 29237806 )	Magnaghi P....Isacchi A.	2017
23	On a Rare Cutaneous Metastasis from a Sacrococcygeal Chordoma. ( 28409046 )	D'Amuri A....Filotico M.	2017
24	Prognostic Significance of Resection Degree in Skull Base Chordoma: A Systematic Review and Meta-Analysis. ( 28437876 )	Zou M.X....Lv G.H.	2017
25	Updated Outcome and Analysis of Tumor Response in Mobile Spine and Sacral Chordoma Treated With Definitive High-Dose Photon/Proton Radiation Therapy. ( 27986348 )	Kabolizadeh P....DeLaney T.F.	2017
26	EGFR Inhibition in a Pretreated Sacral Chordoma: A Role for Erlotinib? Case Report and a Brief Review of Literature. ( 28775967 )	Trapani D....De Pas T.	2017
27	In Reply: Factors Predicting Recurrence After Resection of Clival Chordoma Using Variable Surgical Approaches and Radiation Modalities. ( 28379552 )	Jahangiri A....Aghi M.K.	2017
28	Prognostic Factors and Survival Outcomes in Patients with Chordoma in the United States: A Population-Based Analysis. ( 28457925 )	Lee I.J....Fahim D.K.	2017
29	Whole-Body MRI Virtual Autopsy Using Diffusion-weighted Imaging With Background Suppression (DWIBS) at 3 T in a Child Succumbing to Chordoma. ( 28060123 )	Andronikou S....Meiring M.	2017
30	CDK4 expression in chordoma: A potential therapeutic target. ( 29194728 )	Liu T....Duan Z.	2017
31	In Reply to "Prognostic Significance of Resection Degree inA Skull Base Chordoma: A Systematic Review and Meta-Analysis". ( 28437877 )	Zhai Y....Zhang Y.	2017
32	Differences in Dural Penetration of Clival Chordomas Are Associated with Different Prognosis and Expression of Platelet-Derived Growth Factor Receptor-I^. ( 27506406 )	Zhai Y....Zhang Y.	2017
33	Large chordoma of the sacrum. ( 28765485 )	Godkin O....McCabe J.	2017
34	Clinical features and surgical outcomes of patients with skull base chordoma: a retrospective analysis of 238 patients. ( 28059654 )	Wang L....Zhang J.	2017
35	MR Imaging Grading System for Skull Base Chordoma. ( 28428207 )	Tian K....Zhang J.	2017
36	iASPP overexpression is associated with clinical outcome in spinal chordoma and influences cellular proliferation, invasion, and sensitivity to cisplatin<i>in vitro</i>. ( 28978123 )	Ma Y....He G.	2017
37	Impact of early access to multidisciplinary care on treatment outcomes in patients with skull base chordoma. ( 29270681 )	Freeman J.L....Raza S.M.	2017
38	Phase 2 study of dasatinib in patients with alveolar soft part sarcoma, chondrosarcoma, chordoma, epithelioid sarcoma, or solitary fibrous tumor. ( 27696380 )	Schuetze S.M....Baker L.H.	2017
39	Neuronavigation-guided endoscopic endonasal excision of schwannoma-like chordoma of the Meckel's cave: A case report. ( 28758183 )	Akay A....A8aA9li M.S.	2017
40	Multicentric Chordoma : An Uncommon and Incompletely Understood Presentation. ( 28766007 )	Jones J.R....Malhotra A.	2017
41	An unusual case of oropharyngeal chordoma: A case report and literature review. ( 29310398 )	Li X....Yang H.	2017
42	Recurrent chordoma with orbital and eyelid invasion. ( 28357494 )	Krishna Y....Coupland S.E.	2017
43	MRI evaluation of sacral chordoma treated with carbon ion radiotherapy alone. ( 29279241 )	Preda L....Orecchia R.	2017
44	Genetic aberrations and molecular biology of skull base chordoma and chondrosarcoma. ( 28432450 )	Kitamura Y....Yoshida K.	2017
45	Letter to the Editor: Influence of age on survival outcomes in patients with spinal chordoma. ( 28291405 )	Zou M.X....Lv G.H.	2017
46	EM proves invaluable in the confirmation of chordoma in the sacral mass of a middle-aged man. ( 28524812 )	Flowers A....Turbat-Herrera E.	2017
47	Intradural Chordoma of Cerebellopontine Angle: Case Report and Review. ( 28866065 )	Goodarzi A....Shahlaie K.	2017
48	A Diagnostic Pitfall: Atypical Teratoid Rhabdoid Tumor Versus Dedifferentiated/Poorly Differentiated Chordoma: Analysis of a Mono-institutional Series. ( 28777153 )	Buccoliero A.M....Genitori L.	2017
49	Establishment and genomic characterization of the new chordoma cell line Chor-IN-1. ( 28835717 )	Bosotti R....Isacchi A.	2017
50	Spinal stereotactic body radiotherapy following intralesional curettage with separation surgery for initial or salvage chordoma treatment. ( 28041314 )	Lockney D.T....Bilsky M.	2017

Sources

Genes for Chordoma

Genes related to Chordoma (2 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	CHDM	Chordoma	Genetic Locus	567.24	Structural variation ⁵³ Susceptibility factor ⁵³ GeneCards inferred via : Publications Gene name (show sections)
2	TBXT	T-Box Transcription Factor T	Protein Coding	43.26	Susceptibility factor ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)
3	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	28.12	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	7504258 7512866 1722044 (more) 1703453 9696295 8091802 19521276 15086843 7532910 1696786 18820665 1463093 7571087 16843131 17021752 11964040 9275666 16810540 15584212 9688766 20190948 19194275 7525890 7506477 1641093 11239887 11271555 1754509 12483123 10478665 7512865 1546518 1702083
4	VIM	Vimentin	Protein Coding	27.1	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	1280357 7504258 7512866 (more) 1703453 1463093 20461036 1546518 1702083 7506477 9235522 11239887 9275666 15584212 9688766 1696786 20190948 8091802 8299704 11271555 1754509 12483123 7512865 1283974
5	S100B	S100 Calcium Binding Protein B	Protein Coding	26.01	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	7504258 1463093 1688959 (more) 1702083 1696786 9688766 19521276 10478665 7693324
6	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	24.5	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	19194275 1654872 1280357 (more) 19521276 19668151 1283974 8697996
7	KRT7	Keratin 7	Protein Coding	23.37	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	15086843 9195570
8	DES	Desmin	Protein Coding	23.31	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	7512866 1280357 1283974 (more) 8454279 15584212
9	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	21.77	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	17145809 20043105
10	LGALS3	Galectin 3	Protein Coding	21.46	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	11953597 19521276 9447709
11	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	20.46	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	11729215 14608467 19521276
12	JUP	Junction Plakoglobin	Protein Coding	19.91	Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	11729215 16224208
13	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	17.93	GeneCards inferred via : Publications (show sections)
14	EGFR	Epidermal Growth Factor Receptor	Protein Coding	17.63	GeneCards inferred via : Publications (show sections)
15	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	17.63	GeneCards inferred via : Publications (show sections)

Sources

Variations for Chordoma

Cosmic variations for Chordoma:

⁹

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	Conf
1	COSM1307	KIT	bone,sacrum,chordoma,NS	c.2394C>T	p.I798I	20
2	COSM21983	KIT	bone,sacrum,chordoma,NS	c.1638A>G	p.K546K	20

Copy number variations for Chordoma from CNVD:

⁷ (show top 50) (show all 470)

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	13362	10	1	135374737	Loss	PTEN	Chordoma
2	13372	17	1	22200000	Loss	NF1	Chordoma
3	13373	17	1	22200000	Loss	P53	Chordoma
4	13795	11	1	51400000	Loss	WT1	Chordoma
5	13810	19	1	63811651	Gain	BAX	Chordoma
6	13811	19	1	63811651	Gain	TGFB1	Chordoma
7	13825	18	1	76117153	Loss	SMAD4	Chordoma
8	17403	1	142600000	180300000	Gain		Chordoma
9	21008	1	15600000	106368585	Loss		Chordoma
10	21654	13	16000000	114142980	Loss	BRCA2	Chordoma
11	21655	13	16000000	114142980	Loss	RB	Chordoma
12	25739	1	193800000	243700000	Gain		Chordoma
13	28392	17	22200000	78774742	Gain	HER2	Chordoma
14	29289	1	2300000	124300000	Loss	RUNX3	Chordoma
15	31074	1	25226001	25291501	Loss	RUNX3	Chordoma
16	31348	1	26979575	26979875	Gain		Chordoma
17	31733	1	30245671	30246671	Gain		Chordoma
18	31901	1	31899334	31900334	Loss		Chordoma
19	31908	1	31940315	31941315	Gain		Chordoma
20	32031	1	32719745	32720045	Gain		Chordoma
21	32032	1	32720036	32721036	Loss		Chordoma
22	32207	1	34451346	34452346	Gain		Chordoma
23	32675	1	38399550	38400550	Gain		Chordoma
24	32770	1	39264122	39265122	Gain		Chordoma
25	33966	1	50992002	50993002	Gain		Chordoma
26	35065	11	59700000	74900000	Gain	MEN1	Chordoma
27	36036	1	70901720	70902020	Loss		Chordoma
28	36038	1	70998381	70998681	Loss		Chordoma
29	36075	1	71137728	71138728	Gain		Chordoma
30	48312	11	1	12700000	Loss		Chordoma
31	49581	11	108093558	108239826	Loss	ATM	Chordoma
32	52925	11	21700000	48800000	Loss		Chordoma
33	56520	11	59900000	68400000	Loss		Chordoma
34	63736	12	120700000	125900000	Loss		Chordoma
35	65974	12	23685230	24715380	Gain	SOX5	Chordoma
36	66550	12	30700000	35800000	Loss		Chordoma
37	67677	12	4382901	4414522	Gain	CCND2	Chordoma
38	67847	12	4543308	4554780	Gain		Chordoma
39	68279	12	48366747	48398285	Gain	COL2A1	Chordoma
40	74311	13	103858404	103859404	Loss		Chordoma
41	81414	14	102320080	102321080	Gain		Chordoma
42	81835	14	104931320	104931620	Gain		Chordoma
43	81836	14	104931398	104932398	Loss		Chordoma
44	86968	14	67892033	67893033	Loss		Chordoma
45	86969	14	67894685	67895685	Gain		Chordoma
46	86990	14	68271232	68272232	Gain		Chordoma
47	87006	14	68408332	68409332	Gain		Chordoma
48	87676	14	75864127	75864427	Loss		Chordoma
49	87678	14	75887005	75888005	Gain		Chordoma
50	87692	14	76184263	76185263	Loss		Chordoma

Sources

Expression for Chordoma

Search GEO for disease gene expression data for Chordoma.

Sources

Pathways for Chordoma

Pathways related to Chordoma according to GeneCards Suite gene sharing:

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶² Colorectal cancer ³⁶ EGFR tyrosine kinase inhibitor resistance ³⁶ Glioma ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²¹ Signaling Pathways in Glioblastoma ¹ Thyroid cancer ³⁶	12.85	CDKN2A EGFR JUP MET PDGFRA
2	Pathways in cancer ³⁶	12.63	CDKN2A EGFR JUP MET PDGFRA
3	Cytoskeletal Signaling ⁴	12.25	DES JUP KRT7 MUC1 VIM
4	MicroRNAs in cancer ³⁶	12.2	CDKN2A EGFR MET PDGFRA VIM
5	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶¹	11.83	MET NCAM1 TBXT VIM
6	Adhesion ⁴	11.82	JUP MUC1 NCAM1
7	Glioblastoma Multiforme ⁶⁰	11.77	CDKN2A EGFR PDGFRA
8	Signaling by ERBB4 ⁶² Show member pathways Downregulation of ERBB4 signaling ⁶² ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶²	11.75	EGFR GFAP S100B
9	Spinal Cord Injury ¹	11.64	EGFR GFAP LGALS3 VIM
10	Central carbon metabolism in cancer ³⁶	11.48	EGFR MET PDGFRA
11	Cardiac Progenitor Differentiation ¹	11.38	NCAM1 PDGFRA TBXT
12	Photodynamic therapy-induced AP-1 survival signaling. ¹	11.34	CDKN2A EGFR PDGFRA
13	Cytoskeleton remodeling Neurofilaments ²¹ Show member pathways Cytoskeleton remodeling Keratin filaments ²¹	11.29	DES GFAP KRT7 VIM
14	Cell adhesion_Cell-matrix glycoconjugates ²¹	11.2	LGALS3 MUC1 NCAM1
15	Neural Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶¹	10.92	GFAP NCAM1 PDGFRA S100B VIM
16	Advanced glycosylation endproduct receptor signaling ⁶²	10.64	LGALS3 S100B
17	G-protein signaling_Rap2B regulation pathway ²¹	10.54	DES EGFR GFAP MET PDGFRA VIM

Sources

GO Terms for Chordoma

Cellular components related to Chordoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	9.93	CDKN2A DES EGFR GFAP JUP KRT7
2	extracellular matrix	GO:0031012	9.56	JUP LGALS3 NCAM1 VIM
3	intermediate filament	GO:0005882	9.02	DES GFAP JUP KRT7 VIM
4	fascia adherens	GO:0005916	8.96	DES JUP

Biological processes related to Chordoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	MAPK cascade	GO:0000165	9.56	EGFR MET NCAM1 PDGFRA
2	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.54	EGFR MET PDGFRA
3	phosphatidylinositol phosphorylation	GO:0046854	9.5	EGFR MET PDGFRA
4	astrocyte development	GO:0014002	9.4	GFAP VIM
5	Bergmann glial cell differentiation	GO:0060020	9.16	GFAP VIM
6	intermediate filament-based process	GO:0045103	8.96	GFAP VIM
7	intermediate filament organization	GO:0045109	8.8	DES GFAP VIM

Molecular functions related to Chordoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.85	DES EGFR GFAP MET S100B VIM
2	structural constituent of cytoskeleton	GO:0005200	9.58	DES GFAP VIM
3	structural molecule activity	GO:0005198	9.56	GFAP JUP KRT7 VIM
4	protein phosphatase binding	GO:0019903	9.5	EGFR JUP MET
5	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	9.33	EGFR MET PDGFRA
6	transmembrane receptor protein tyrosine kinase activity	GO:0004714	9.13	EGFR MET PDGFRA
7	Ras guanyl-nucleotide exchange factor activity	GO:0005088	8.92	EGFR MET NCAM1 PDGFRA

Sources

Sources for Chordoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia