CHDM
MCID: CHR072
MIFTS: 65

Chordoma (CHDM)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chordoma

MalaCards integrated aliases for Chordoma:

Name: Chordoma 58 12 77 54 26 60 76 30 13 56 6 45 15 74
Chdm 58 26 76
Notochordal Sarcoma 26 60
Notochordoma 12 26
Chordoma, Susceptibility to 58
Chordoepithelioma 26
Chordocarcinoma 26

Characteristics:

Orphanet epidemiological data:

60
chordoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (United States); Age of onset: Adult; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
median age at diagnosis, 59 years


HPO:

33
chordoma:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3302
OMIM 58 215400
MeSH 45 D002817
NCIt 51 C2947
SNOMED-CT 69 50007008
MESH via Orphanet 46 D002817
ICD10 via Orphanet 35 C76.7
UMLS via Orphanet 75 C0008487
Orphanet 60 ORPHA178
MedGen 43 C0008487
SNOMED-CT via HPO 70 263681008
UMLS 74 C0008487

Summaries for Chordoma

NIH Rare Diseases : 54 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.

MalaCards based summary : Chordoma, also known as chdm, is related to chondroid chordoma and spinal chordoma. An important gene associated with Chordoma is CHDM (Chordoma), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Dasatinib and Sunitinib have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and brain, and related phenotypes are abnormality of the vertebral column and abnormality of the head

Disease Ontology : 12 A notochordal cancer that derives from cellular remnants of the notochord.

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Chordoma is a rare slow-growing neoplasm thought to arise from cellular remnants of the notochord. The... more...

Related Diseases for Chordoma

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

(show top 50) (show all 297)
# Related Disease Score Top Affiliating Genes
1 chondroid chordoma 34.0 CEACAM3 MUC1 S100A1 SMARCB1 VIM
2 spinal chordoma 33.5 EGFR MET PDGFRA PDGFRB S100B
3 non-functioning pituitary adenoma 30.5 MUC1 S100B
4 myxopapillary ependymoma 30.4 GFAP MUC1 S100B VIM
5 parachordoma 30.4 DES GFAP KRT7 MUC1 VIM
6 chordoid meningioma 30.3 GFAP MUC1 S100B VIM
7 fibrous histiocytoma 30.3 DES S100B SERPINA3 VIM
8 hemangioblastoma 30.3 GFAP MUC1 S100B
9 pleomorphic adenoma 30.3 GFAP MUC1 S100B VIM
10 alveolar soft part sarcoma 30.3 DES MET VIM
11 ependymoma 30.3 EGFR GFAP MUC1 S100B VIM
12 liposarcoma 30.2 CDKN2A DES VIM
13 rhabdoid meningioma 30.2 GFAP SMARCB1 VIM
14 malignant fibroxanthoma 30.2 DES MUC1 S100B SERPINA3 VIM
15 giant cell tumor 30.1 DES MUC1 SERPINA3 VIM
16 neurofibroma 30.1 CDKN2A MUC1 PDGFRA S100B
17 hemangiopericytoma, malignant 30.0 DES MUC1 S100B VIM
18 myoepithelioma 30.0 GFAP S100A1 S100B SMARCB1 VIM
19 epithelioid sarcoma 30.0 KRT7 MUC1 SMARCB1 VIM
20 chondromyxoid fibroma 29.9 CDKN2A DES S100A1 VIM
21 adenocarcinoma 29.8 CDKN2A EGFR MUC1 PDGFRB PTEN
22 clear cell renal cell carcinoma 29.7 KRT7 MET MUC1 PTEN VIM
23 carcinosarcoma 29.7 DES KRT7 MUC1 PTEN VIM
24 thyroid cancer 29.4 EGFR KRT19 LGALS3 MET PTEN
25 renal cell carcinoma, nonpapillary 29.1 EGFR KRT19 KRT7 MET MUC1 PDGFRB
26 clivus chordoma 12.5
27 clivus chondroid chordoma 12.5
28 sacrum chordoma 12.4
29 chondrosarcoma 10.6
30 bednar tumor 10.5 S100B VIM
31 primary hepatic neuroendocrine carcinoma 10.5 S100B VIM
32 sinonasal undifferentiated carcinoma 10.5 CEACAM3 MUC1
33 breast scirrhous carcinoma 10.5 EGFR MUC1
34 spindle cell thymoma 10.5 DES MUC1
35 spindle cell lipoma 10.5 DES VIM
36 angiolipoma 10.5 DES VIM
37 epulis 10.5 DES VIM
38 lymphangiomatosis 10.5 DES VIM
39 malignant triton tumor 10.5 DES S100B
40 melanotic medulloblastoma 10.5 GFAP SMARCB1
41 degos 'en cocarde' erythrokeratoderma 10.5
42 solid adenocarcinoma with mucin production 10.5 KRT7 MUC1
43 endosalpingiosis 10.5 KRT7 MUC1
44 bile duct mucoepidermoid carcinoma 10.5 KRT7 MUC1
45 middle ear adenoma 10.5 KRT7 MUC1
46 retroperitoneum carcinoma 10.5 CDKN2A SMARCB1
47 benign breast adenomyoepithelioma 10.5 EGFR KRT7
48 oncocytic breast carcinoma 10.5 EGFR KRT7
49 malignant ectomesenchymoma 10.5 DES S100A1
50 regional odontodysplasia 10.5 KRT19 VIM

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to Chordoma

Symptoms & Phenotypes for Chordoma

Human phenotypes related to Chordoma:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the vertebral column 33 HP:0000925
2 abnormality of the head 33 HP:0000234
3 chordoma 33 HP:0010762

Symptoms via clinical synopsis from OMIM:

58
Skeletal Skull:
sphenooccipital chordoma
nasopharyngeal chordoma

Skeletal Spine:
vertebral chordoma
sacrococcygeal chordoma

Clinical features from OMIM:

215400

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

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.22 EGFR
2 Decreased viability GR00173-A 10.22 PDGFRA
3 Decreased viability GR00221-A-1 10.22 CDKN2A EGFR PDGFRA PDGFRB SMARCB1
4 Decreased viability GR00221-A-2 10.22 SMARCB1
5 Decreased viability GR00221-A-3 10.22 CDKN2A PDGFRA PDGFRB SMARCB1
6 Decreased viability GR00221-A-4 10.22 CDKN2A EGFR PDGFRA PDGFRB
7 Decreased viability GR00342-S-1 10.22 PDGFRB
8 Decreased viability GR00381-A-1 10.22 SMARCB1
9 Decreased viability GR00402-S-2 10.22 CDKN2A EGFR PDGFRA PDGFRB SMARCB1
10 Decreased cell migration GR00055-A-1 9.72 EGFR MET MUC1 PDGFRB VIM
11 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.65 EGFR MUC1 PDGFRB PTEN VIM
12 Decreased viability in esophageal squamous lineage GR00235-A 9.65 CDKN2A CEACAM3 DES GFAP KRT7 PDGFRA
13 Reduced mammosphere formation GR00396-S 9.17 DES EGFR KRT7 PTEN SMARCB1 TBXT

MGI Mouse Phenotypes related to Chordoma:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 CDKN2A DES EGFR GFAP KRT19 LGALS3
2 cellular MP:0005384 10.38 CDKN2A DES EGFR GFAP KRT19 KRT7
3 behavior/neurological MP:0005386 10.37 CDKN2A DES GFAP LGALS3 MET PDGFRA
4 homeostasis/metabolism MP:0005376 10.37 CDKN2A DES EGFR GFAP KRT7 LGALS3
5 mortality/aging MP:0010768 10.27 CDKN2A DES EGFR GFAP KRT19 LGALS3
6 digestive/alimentary MP:0005381 10.26 CDKN2A EGFR GFAP KRT19 LGALS3 MET
7 embryo MP:0005380 10.21 CDKN2A EGFR KRT19 MET PDGFRA PDGFRB
8 muscle MP:0005369 10.17 CDKN2A DES EGFR GFAP MET PDGFRA
9 nervous system MP:0003631 10.15 CDKN2A EGFR GFAP KRT19 LGALS3 MET
10 integument MP:0010771 10.13 CDKN2A EGFR KRT19 LGALS3 PDGFRA PDGFRB
11 normal MP:0002873 10.02 EGFR GFAP KRT19 MET PDGFRA PDGFRB
12 neoplasm MP:0002006 10.01 CDKN2A EGFR KRT19 LGALS3 MET PDGFRA
13 renal/urinary system MP:0005367 9.86 EGFR KRT7 LGALS3 MET PDGFRA PDGFRB
14 reproductive system MP:0005389 9.85 CDKN2A EGFR KRT19 LGALS3 PDGFRA PDGFRB
15 respiratory system MP:0005388 9.56 CDKN2A EGFR LGALS3 MET PDGFRA PTEN
16 vision/eye MP:0005391 9.23 CDKN2A EGFR GFAP MET PDGFRB PTEN

Drugs & Therapeutics for Chordoma

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
2
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
3
Trioxsalen Approved Phase 2,Phase 1 3902-71-4 5585
4
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 6055-19-2, 50-18-0 2907
5
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
6
afatinib Approved Phase 2 850140-72-6, 439081-18-2 10184653
7
Ipilimumab Approved Phase 2 477202-00-9
8
nivolumab Approved Phase 2,Phase 1 946414-94-4
9
Cobalt Approved, Experimental Phase 2 7440-48-4 104729
10
Cetuximab Approved Phase 1, Phase 2 205923-56-4 56842117 2333
11
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
12
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
13
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
14
Doxil Approved June 1999 Phase 1, Phase 2 31703
15 Protein Kinase Inhibitors Phase 2,Phase 1
16 Imatinib Mesylate Phase 2,Phase 1 220127-57-1 123596
17 Immunologic Factors Phase 2,Phase 1,Not Applicable
18 Immunosuppressive Agents Phase 2,Phase 1
19 Angiogenesis Inhibitors Phase 2
20 Angiogenesis Modulating Agents Phase 2
21 Dihematoporphyrin Ether Phase 2,Phase 1
22 Ether Phase 2,Phase 1
23 Hematoporphyrins Phase 2,Phase 1
24 Dermatologic Agents Phase 2,Phase 1
25 Hematoporphyrin Derivative Phase 2,Phase 1
26 Photosensitizing Agents Phase 2,Phase 1
27 Antirheumatic Agents Phase 1, Phase 2
28 Alkylating Agents Phase 1, Phase 2,Phase 2
29 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2
30 Fluoroazomycin arabinoside Phase 2
31 Radiopharmaceuticals Phase 2
32 lysine Phase 2,Phase 1
33 Antibodies Phase 2,Phase 1
34 Immunoglobulins Phase 2,Phase 1
35 Antibodies, Monoclonal Phase 2
36 Antineoplastic Agents, Immunological Phase 2,Phase 1
37 Brewer's Yeast Phase 2
38 Vaccines Phase 2,Phase 1
39 Pharmaceutical Solutions Phase 2
40 Topoisomerase Inhibitors Phase 1, Phase 2
41 Antibiotics, Antitubercular Phase 1, Phase 2
42 Anti-Bacterial Agents Phase 1, Phase 2
43 Immunoglobulin G Phase 2
44
Panobinostat Approved, Investigational Phase 1 404950-80-7 6918837
45
Amifostine Approved, Investigational Phase 1 20537-88-6 2141
46
Lenograstim Approved, Investigational Phase 1 135968-09-1
47
Melphalan Approved Phase 1 148-82-3 460612 4053
48
Busulfan Approved, Investigational Phase 1 55-98-1 2478
49
Sargramostim Approved, Investigational Phase 1 123774-72-1, 83869-56-1
50
Thiotepa Approved, Investigational Phase 1 52-24-4 5453

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Stereotactic Body Radiotherapy for Head and Neck Tumors Completed 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 Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
7 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
8 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
9 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
10 Ion Irradiation of Sacrococcygeal Chordoma Recruiting NCT01811394 Phase 2
11 CDK4/6 Inhibition in Locally Advanced/Metastatic Chordoma Recruiting NCT03110744 Phase 2 Palbociclib
12 Afatinib in Locally Advanced and Metastatic Chordoma Recruiting NCT03083678 Phase 2 Afatinib
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 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
15 A Phase II Study Evaluating Efficacy and Safety of Regorafenib in Patients With Metastatic Bone Sarcomas Recruiting NCT02389244 Phase 2 Regorafenib;Placebo
16 Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
17 QUILT-3.011 Phase 2 Yeast-Brachyury Vaccine Chordoma Active, not recruiting NCT02383498 Phase 2
18 Proton Beam Therapy for Chordoma Patients Active, not recruiting NCT00496119 Phase 2
19 BN Brachyury and Radiation in Chordoma Active, not recruiting NCT03595228 Phase 2
20 Photodynamic Therapy (PDT) For Recurrent High Grade Gliomas Active, not recruiting NCT01966809 Phase 2 Photofrin photodynamic therapy.
21 QUILT-3.091 NANT Chordoma Vaccine vs Radiation in Subjects With Unresectable Chordoma. Not yet recruiting NCT03647423 Phase 1, Phase 2 Avelumab;Cetuximab;Cyclophosphamide
22 Nivolumab and Relatlimab in Treating Participants With Advanced Chordoma Not yet recruiting NCT03623854 Phase 2
23 Talimogene Laherparepvec, Nivolumab and Trabectedin for Sarcoma Not yet recruiting NCT03886311 Phase 2 Talimogene Laherparepvec 100000000 PFU/1 ML Injection Suspension [IMLYGIC];Nivolumab IV Soln 100 MG/10ML;Trabectedin 0.25 MG/1 VIAL Intravenous Powder for Solution
24 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
25 HSV1716 in Patients With Non-Central Nervous System (Non-CNS) Solid Tumors Completed NCT00931931 Phase 1
26 Safety Study of Intratumoral Injection of Clostridium Novyi-NT Spores to Treat Patients With Solid Tumors That Have Not Responded to Standard Therapies Completed NCT01924689 Phase 1
27 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)
28 Photodynamic Therapy (PDT) for Recurrent Pediatric Brain Tumors Completed NCT01682746 Phase 1 Photofrin (porfimer sodium) & photodynamic therapy.
29 Nivolumab With or Without Stereotactic Radiosurgery in Treating Patients With Recurrent, Advanced, or Metastatic Chordoma Recruiting NCT02989636 Phase 1
30 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
31 Nilotinib With Radiation for High Risk Chordoma Active, not recruiting NCT01407198 Phase 1 Nilotinib
32 A Study of FAZ053 Single Agent and in Combination With PDR001 in Patients With Advanced Malignancies. Active, not recruiting NCT02936102 Phase 1 FAZ053;PDR001
33 Amifostine to Protect From Side Effects of PSCT in Treating Patients With Solid Tumors Terminated NCT00003926 Phase 1 amifostine trihydrate;busulfan;filgrastim;melphalan;thiotepa
34 Polyvinylpyrrolidone-Sodium Hyaluronate Gel in Reducing Pain From Oral Mucositis in Young Patients With Cancer Unknown status NCT00349024 Not Applicable polyvinylpyrrolidone-sodium hyaluronate gel
35 Genetic Aspects of Chordoma: A Collaboration With SEER Registries to Identify Chordoma Families Completed NCT00341627
36 Chordoma Family Study Completed NCT00410670
37 Hypoxia-positron Emission Tomography (PET) and Intensity Modulated Proton Therapy (IMPT) Dose Painting in Patients With Chordomas Completed NCT00713037 Not Applicable
38 Proton Therapy for Chordomas and/or Chondrosarcomas Completed NCT00797602
39 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
40 Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes Recruiting NCT01200680
41 Sacral Chordoma: Surgery Versus Definitive Radiation Therapy in Primary Localized Disease Recruiting NCT02986516 Not Applicable
42 Randomized Carbon Ions vs Standard Radiotherapy for Radioresistant Tumors Recruiting NCT02838602 Not Applicable
43 A Study of IMRT in Primary Bone and Soft Tissue Sarcoma Recruiting NCT02520128 Not Applicable
44 Effect of High Doses of Radiation on Bone Structure and Metabolism Recruiting NCT02323295 Not Applicable
45 High Dose Intensity Modulated Proton Radiation Treatment +/- Surgical Resection of Sarcomas of the Spine, Sacrum and Base of Skull Active, not recruiting NCT01346124 Not Applicable
46 Stereotactic Body Radiotherapy for Spine Tumors Active, not recruiting NCT01347307 Not Applicable
47 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Active, not recruiting NCT00919269
48 Innovative SolutIons for DosimEtry in Hadrontherapy (INSIDE) Not yet recruiting NCT03662373
49 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat

Search NIH Clinical Center for Chordoma

Cochrane evidence based reviews: chordoma

Genetic Tests for Chordoma

Genetic tests related to Chordoma:

# Genetic test Affiliating Genes
1 Chordoma 30

Anatomical Context for Chordoma

MalaCards organs/tissues related to Chordoma:

42
Bone, Lung, Brain, Liver, Pituitary, Lymph Node, Bone Marrow

Publications for Chordoma

Articles related to Chordoma:

(show top 50) (show all 1578)
# Title Authors Year
1
The role of dose escalation and proton therapy in perioperative or definitive treatment of chondrosarcoma and chordoma: An analysis of the National Cancer Data Base. ( 30644538 )
2019
2
Letter to the Editor. Prognostic molecular panel for skull base chordoma. ( 30875691 )
2019
3
Diffuse spinal spreading following previous intracranial intradural chordoma resection: A rare case report. ( 30902435 )
2019
4
Extra-axial chordoma of the gingiva. ( 30904199 )
2019
5
Sacral chordoma: clinical experience of a series of 11 patients over 18 years. ( 30066091 )
2019
6
Chordoma: update on disease, epidemiology, biology and medical therapies. ( 30585858 )
2019
7
Immunologic Correlates of the Abscopal Effect in a SMARCB1/INI1-negative Poorly Differentiated Chordoma after EZH2 Inhibition and Radiotherapy. ( 30642912 )
2019
8
Small-molecule targeting of brachyury transcription factor addiction in chordoma. ( 30664779 )
2019
9
Prognostic significance of pretreatment plasma D-dimer levels in patients with spinal chordoma: a retrospective cohort study. ( 30684054 )
2019
10
A step towards international prospective trials in carbon ion radiotherapy: investigation of factors influencing dose distribution in the facilities in operation based on a case of skull base chordoma. ( 30709366 )
2019
11
Gamma knife surgery efficacy in controlling postoperative residual clival chordoma growth. ( 30710730 )
2019
12
Low dose radiotherapy is associated with local complications but not disease control in sacral chordoma. ( 30734292 )
2019
13
The Importance of the Hedgehog Signaling Pathway in Tumorigenesis of Spinal and Cranial Chordoma. ( 30769952 )
2019
14
Molecular Targeted Therapy in the Treatment of Chordoma: A Systematic Review. ( 30775316 )
2019
15
Maximizing Sacral Chordoma Resection by Precise 3-D Tumor Modeling in the OR using Intra-Operative CT Registration with Pre-Operative MRI Fusion and Intra-Operative Neuronavigation: A Case Series. ( 30790740 )
2019
16
Pediatric extraosseous sacral chordoma: case report and literature review of embryonic derivation and clinical implications. ( 30797212 )
2019
17
Microarray gene expression profiling and bioinformatics analysis reveal key differentially expressed genes in clival and sacral chordoma cell lines. ( 30821656 )
2019
18
Targeted therapy for chordoma. ( 30824893 )
2019
19
Novel approach using ultrasonic bone curettage and transoral robotic surgery for en bloc resection of cervical spine chordoma: case report. ( 30835711 )
2019
20
Letter to the Editor. Brachyury as prognostic biomarker in chordoma. ( 29701545 )
2018
21
SNF5 as a prognostic factor in skull base chordoma. ( 29222701 )
2018
22
Computed tomography and magnetic resonance imaging features of cervical chordoma. ( 29963156 )
2018
23
Clinical experience of intracranial chordoma - A systematic review and meta-analysis of the literature. ( 29724651 )
2018
24
In Reply: Cranial Chordoma: A New Preoperative Grading System. ( 29672767 )
2018
25
Letter: Cranial Chordoma: A New Preoperative Grading System. ( 29672759 )
2018
26
A historical recount of chordoma. ( 29393831 )
2018
27
Analysis of prognostic factors for survival in patients with primary spinal chordoma using the SEER Registry from 1973 to 2014. ( 29625617 )
2018
28
Humeral metastasis of sacrococcygeal chordoma detected by fluorine-18 fluorodeoxyglucose positron emission tomography-computed tomography: A case report. ( 29904494 )
2018
29
Clinicopathologic implications of CD8<sup>+</sup>/Foxp3<sup>+</sup>ratio and miR-574-3p/PD-L1 axis in spinal chordoma patients. ( 29051990 )
2018
30
Intradural cervical chordoma with diffuse spinal leptomeningeal spread: case report and review of the literature. ( 29313091 )
2018
31
Chordoma ( 28613596 )
2018
32
Tumor Reduction with Pazopanib in a Patient with Recurrent Lumbar Chordoma. ( 29850323 )
2018
33
Extended endoscopic endonasal surgery for clival chordoma and chondrosarcoma: Our experience in 14 cases. ( 29691145 )
2018
34
Prospective validation of a molecular prognostication panel for clival chordoma. ( 29905508 )
2018
35
Radiofrequency ablation in gross total excision of cervical chordoma: ideas and technique. ( 29915886 )
2018
36
Analysis of clinical factors and PDGFR-I^ in predicting prognosis of patients with clival chordoma. ( 29303447 )
2018
37
Clival chordoma with drop metastases. ( 29875988 )
2018
38
A giant lumbar chordoma: A case report. ( 29924012 )
2018
39
Role of the Apparent Diffusion Coefficient as a Predictor of Tumor Progression in Patients with Chordoma. ( 29724767 )
2018
40
The Sellar Tumor: Metastasis or Chordoma? ( 29381634 )
2018
41
Cryosurgery in the excision of a giant local recurrent sacral chordoma: a case report and literature review. ( 29372428 )
2018
42
Tumour Volume and Dose Influence Outcome after Surgery and High-dose Photon Radiotherapy for Chordoma and Chondrosarcoma of the Skull Base and Spine. ( 29402600 )
2018
43
miR-16-5p inhibits chordoma cell proliferation, invasion and metastasis by targeting Smad3. ( 29880900 )
2018
44
The embryonic transcription factor Brachyury confers chordoma chemoresistance via upregulating CA9. ( 29636883 )
2018
45
Characterization of the endolysosomal system in human chordoma cell lines: is there a role of lysosomes in chemoresistance of this rare bone tumor? ( 29725750 )
2018
46
Sacral chordoma : A review of literature. ( 29881220 )
2018
47
Cardiac Metastasis from Clivus Chordoma. ( 29454123 )
2018
48
Osteosarcoma, Chondrosarcoma, and Chordoma. ( 29220289 )
2018
49
Clival Chordoma With Brainstem Invasion. ( 29325600 )
2018
50
State-of-the-Art Imaging in Human Chordoma of the Skull Base. ( 29629241 )
2018

Variations for Chordoma

ClinVar genetic disease variations for Chordoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAF1 NM_002880.3(RAF1): c.176G> A (p.Arg59His) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 12618546: 12618546
2 RAF1 NM_002880.3(RAF1): c.176G> A (p.Arg59His) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 12660045: 12660045

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 GRCh38 Location Conf
1 COSM6976986 SETD2 bone,sacrum,chordoma,NS c.3341C>T p.A1114V 3:47103413-47103413 0
2 COSM1307 KIT bone,sacrum,chordoma,NS c.2394C>T p.I798I 4:54733102-54733102 0
3 COSM21983 KIT bone,sacrum,chordoma,NS c.1638A>G p.K546K 4:54727315-54727315 0
4 COSM6976985 bone,sacrum,chordoma,NS c.4850C>T p.A1617V 3:47103413-47103413 0

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

Expression for Chordoma

Search GEO for disease gene expression data for Chordoma.

Pathways for Chordoma

Pathways related to Chordoma according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 CEACAM3 EGFR LGALS3 MET MUC1 PDGFRA
2
Show member pathways
13.79 CDKN2A DES EGFR GFAP MET MUC1
3
Show member pathways
12.78 CDKN2A EGFR PDGFRA PDGFRB PTEN
4 12.71 CDKN2A EGFR MET PDGFRA PDGFRB PTEN
5
Show member pathways
12.68 CDKN2A EGFR MET PTEN SMARCB1
6
Show member pathways
12.64 EGFR MET PDGFRA PDGFRB PTEN
7
Show member pathways
12.53 CDKN2A EGFR MET PDGFRA PDGFRB PTEN
8 12.42 DES KRT19 KRT7 MUC1 VIM
9
Show member pathways
12.39 EGFR MET PDGFRA PDGFRB PTEN
10
Show member pathways
12.35 EGFR MET PDGFRA PDGFRB
11
Show member pathways
12.06 EGFR PDGFRA PDGFRB PTEN
12
Show member pathways
12.06 EGFR MET PDGFRA PDGFRB PTEN
13 12.04 EGFR MET PDGFRA PDGFRB
14 11.98 CDKN2A EGFR MET PDGFRA PDGFRB PTEN
15 11.96 EGFR MET PDGFRA PDGFRB PTEN
16 11.87 EGFR GFAP LGALS3 VIM
17 11.84 KRT19 MET PDGFRB TBXT VIM
18 11.7 CDKN2A EGFR PDGFRA PDGFRB PTEN
19 11.63 GFAP PDGFRA S100B VIM
20
Show member pathways
11.59 DES GFAP KRT19 KRT7 VIM
21 11.48 CDKN2A EGFR PDGFRA
22 11.42 EGFR PDGFRA PDGFRB
23
Show member pathways
11.36 EGFR MET PDGFRB
24 11.36 EGFR PDGFRA PDGFRB
25 10.83 EGFR MET PDGFRA PDGFRB PTEN
26 10.82 DES EGFR GFAP MET PDGFRA PDGFRB
27 10.78 PDGFRA PDGFRB
28 10.74 LGALS3 S100B

GO Terms for Chordoma

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 CDKN2A DES EGFR KRT7 LGALS3 MUC1
2 receptor complex GO:0043235 9.56 EGFR MET PDGFRA PDGFRB
3 intermediate filament GO:0005882 9.02 DES GFAP KRT19 KRT7 VIM
4 cytoplasm GO:0005737 10 CDKN2A DES EGFR GFAP KRT7 LGALS3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.98 KRT19 KRT7 PDGFRA SMARCB1 VIM
2 positive regulation of cell proliferation GO:0008284 9.93 EGFR PDGFRA PDGFRB PTEN S100B TBXT
3 MAPK cascade GO:0000165 9.89 EGFR MET PDGFRA PDGFRB
4 peptidyl-tyrosine phosphorylation GO:0018108 9.85 EGFR MET PDGFRA PDGFRB
5 positive regulation of protein kinase B signaling GO:0051897 9.83 EGFR MET PDGFRA PDGFRB
6 wound healing GO:0042060 9.78 EGFR PDGFRA PDGFRB
7 learning or memory GO:0007611 9.73 EGFR PTEN S100B
8 positive regulation of fibroblast proliferation GO:0048146 9.71 EGFR PDGFRA PDGFRB
9 long-term synaptic potentiation GO:0060291 9.67 GFAP PTEN S100B
10 positive regulation of phospholipase C activity GO:0010863 9.6 PDGFRA PDGFRB
11 Bergmann glial cell differentiation GO:0060020 9.58 GFAP VIM
12 retina vasculature development in camera-type eye GO:0061298 9.57 PDGFRA PDGFRB
13 phosphatidylinositol phosphorylation GO:0046854 9.56 EGFR MET PDGFRA PDGFRB
14 positive regulation of histone H4 acetylation GO:0090240 9.51 MUC1 SMARCB1
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.5 PDGFRA PDGFRB PTEN
16 positive regulation of MAPK cascade GO:0043410 9.48 PDGFRA PDGFRB
17 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.46 EGFR PDGFRA PDGFRB PTEN
18 intermediate filament-based process GO:0045103 9.43 GFAP VIM
19 metanephric glomerular capillary formation GO:0072277 9.4 PDGFRA PDGFRB
20 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.37 PDGFRA PDGFRB
21 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.26 EGFR MET PDGFRA PDGFRB
22 intermediate filament organization GO:0045109 8.8 DES GFAP VIM

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.86 DES EGFR GFAP MET PTEN S100A1
2 protein tyrosine kinase activity GO:0004713 9.73 EGFR MET PDGFRA PDGFRB
3 protein phosphatase binding GO:0019903 9.67 EGFR LGALS3 MET
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 EGFR MET PDGFRA PDGFRB
5 structural constituent of cytoskeleton GO:0005200 9.62 DES GFAP KRT19 VIM
6 platelet-derived growth factor binding GO:0048407 9.51 PDGFRA PDGFRB
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 EGFR MET PDGFRA PDGFRB
8 vascular endothelial growth factor binding GO:0038085 9.4 PDGFRA PDGFRB
9 transmembrane signaling receptor activity GO:0004888 9.18 EGFR
10 platelet-derived growth factor receptor binding GO:0005161 9.13 PDGFRA PDGFRB PTEN
11 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.92 EGFR MET PDGFRA PDGFRB
12 protein binding GO:0005515 10.39 CDKN2A DES EGFR GFAP KRT19 KRT7

Sources for Chordoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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