MCID: CHR072
MIFTS: 63

Chordoma

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

Aliases & Classifications for Chordoma

MalaCards integrated aliases for Chordoma:

Name: Chordoma 57 12 76 53 25 59 75 29 13 55 44 15 73
Chdm 57 25 75
Notochordal Sarcoma 25 59
Notochordoma 12 25
Chordoma, Susceptibility to 57
Chordoepithelioma 25
Chordocarcinoma 25

Characteristics:

Orphanet epidemiological data:

59
chordoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (United States); Age of onset: Adult; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
median age at diagnosis, 59 years


HPO:

32
chordoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 215400
Disease Ontology 12 DOID:3302
MeSH 44 D002817
NCIt 50 C2947
SNOMED-CT 68 50007008
Orphanet 59 ORPHA178
MESH via Orphanet 45 D002817
UMLS via Orphanet 74 C0008487
ICD10 via Orphanet 34 C76.7
MedGen 42 C0008487
SNOMED-CT via HPO 69 263681008
UMLS 73 C0008487

Summaries for Chordoma

NIH Rare Diseases : 53 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 spinal chordoma and chondroid 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 Sunitinib and Palbociclib have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and liver, and related phenotypes are abnormality of the head and abnormality of the vertebral column

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

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 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 298)
# Related Disease Score Top Affiliating Genes
1 spinal chordoma 33.9 EGFR MET PDGFRA S100B
2 chondroid chordoma 33.2 CDH1 CEACAM3 MUC1 S100A1 SMARCB1 VIM
3 fibrous histiocytoma 30.9 DES S100B VIM
4 myxopapillary ependymoma 30.8 GFAP MUC1 S100B VIM
5 malignant fibroxanthoma 30.7 DES MUC1 S100B VIM
6 non-functioning pituitary adenoma 30.7 MUC1 S100B
7 chordoid meningioma 30.6 GFAP MUC1 S100B VIM
8 pleomorphic adenoma 30.6 GFAP MUC1 S100B VIM
9 hemangioblastoma 30.5 GFAP MUC1 S100B
10 alveolar soft part sarcoma 30.5 DES MET VIM
11 rhabdoid meningioma 30.5 GFAP SMARCB1 VIM
12 parachordoma 30.5 DES GFAP KRT7 MUC1 VIM
13 hemangiopericytoma, malignant 30.4 DES MUC1 S100B VIM
14 ependymoma 30.3 EGFR GFAP MUC1 S100B VIM
15 rhabdoid cancer 30.2 DES MUC1 SMARCB1 VIM
16 epithelioid sarcoma 30.1 KRT7 MUC1 SMARCB1 VIM
17 colorectal adenocarcinoma 29.9 CDH1 EGFR KRT7
18 myoepithelioma 29.9 GFAP S100A1 S100B SMARCB1 VIM
19 neurofibroma 29.8 CDKN2A MUC1 PDGFRA S100B
20 giant cell tumor 29.8 CTSK DES MUC1 VIM
21 uterine carcinosarcoma 29.8 CDH1 EGFR PTEN
22 adenocarcinoma 29.6 CDH1 CDKN2A EGFR MUC1 PTEN
23 small cell carcinoma 29.4 EGFR KRT7 PDGFRA PTEN
24 atypical teratoid rhabdoid tumor 29.4 DES GFAP MUC1 S100B SMARCB1 VIM
25 clear cell renal cell carcinoma 29.0 CDH1 KRT7 MET MUC1 PTEN VIM
26 renal cell carcinoma, nonpapillary 28.3 CDH1 EGFR KRT19 KRT7 MET MUC1
27 clivus chordoma 12.3
28 clivus chondroid chordoma 12.3
29 sacrum chordoma 12.2
30 localized hypertrophic neuropathy 11.1 MUC1 S100B
31 sclerosing perineurioma 11.1 MUC1 S100B
32 infantile digital fibromatosis 11.0 DES VIM
33 gliomatosis peritonei 11.0 DES GFAP
34 lymphangiomatosis 10.9 DES VIM
35 malignant iris melanoma 10.9 S100A1 S100B
36 bednar tumor 10.9 S100B VIM
37 solid adenocarcinoma with mucin production 10.9 KRT7 MUC1
38 fibrous meningioma 10.9 MUC1 S100B VIM
39 angiolipoma 10.9 DES VIM
40 eccrine porocarcinoma 10.9 MUC1 S100B VIM
41 intracranial cysts 10.9 GFAP MUC1 S100B
42 sinonasal undifferentiated carcinoma 10.9 CEACAM3 MUC1
43 aggressive digital papillary adenocarcinoma 10.9 CEACAM3 MUC1 S100B
44 dendritic cell tumor 10.9 MUC1 S100B VIM
45 cerebral primitive neuroectodermal tumor 10.9 MUC1 S100B VIM
46 ependymoblastoma 10.8 GFAP MET VIM
47 osteofibrous dysplasia 10.8 MET MUC1 VIM
48 chordoid glioma 10.8 GFAP MUC1 S100B
49 desmoplastic small round cell tumor 10.8 DES MUC1 VIM
50 perivascular epithelioid cell tumor 10.8 DES MUC1 VIM

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to Chordoma

Symptoms & Phenotypes for Chordoma

Symptoms via clinical synopsis from OMIM:

57
Skeletal Skull:
sphenooccipital chordoma
nasopharyngeal chordoma

Skeletal Spine:
vertebral chordoma
sacrococcygeal chordoma


Clinical features from OMIM:

215400

Human phenotypes related to Chordoma:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the head 32 HP:0000234
2 abnormality of the vertebral column 32 HP:0000925
3 chordoma 32 HP:0010762

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.18 EGFR
2 Decreased viability GR00173-A 10.18 PDGFRA
3 Decreased viability GR00221-A-1 10.18 CDH1 CDKN2A EGFR PDGFRA SMARCB1
4 Decreased viability GR00221-A-2 10.18 SMARCB1
5 Decreased viability GR00221-A-3 10.18 CDKN2A PDGFRA SMARCB1
6 Decreased viability GR00221-A-4 10.18 CDKN2A EGFR PDGFRA
7 Decreased viability GR00301-A 10.18 CDH1
8 Decreased viability GR00381-A-1 10.18 SMARCB1
9 Decreased viability GR00402-S-2 10.18 CDH1 CDKN2A EGFR PDGFRA SMARCB1
10 Decreased viability in esophageal squamous lineage GR00235-A 9.65 GFAP KRT7 PDGFRA PTEN S100A1 SMARCB1
11 Reduced mammosphere formation GR00396-S 9.28 PTEN SMARCB1 TBXT VIM CDH1 CTSK

MGI Mouse Phenotypes related to Chordoma:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 LGALS3 MET PDGFRA PTEN S100A1 SMARCB1
2 homeostasis/metabolism MP:0005376 10.41 CDH1 CDKN2A CTSK DES EGFR GFAP
3 cardiovascular system MP:0005385 10.4 CDH1 CDKN2A DES EGFR GFAP KRT19
4 behavior/neurological MP:0005386 10.35 S100A1 S100B SMARCB1 TBXT VIM CDKN2A
5 digestive/alimentary MP:0005381 10.31 KRT19 LGALS3 MET PDGFRA PTEN SMARCB1
6 mortality/aging MP:0010768 10.27 CDH1 CDKN2A DES EGFR GFAP KRT19
7 immune system MP:0005387 10.24 CTSK EGFR GFAP LGALS3 MET CDH1
8 embryo MP:0005380 10.22 CDH1 CDKN2A EGFR KRT19 MET PDGFRA
9 nervous system MP:0003631 10.15 PDGFRA PTEN SMARCB1 TBXT VIM CDKN2A
10 integument MP:0010771 10.13 CDH1 CDKN2A EGFR KRT19 LGALS3 PDGFRA
11 muscle MP:0005369 10.13 CDKN2A DES EGFR GFAP MET PDGFRA
12 neoplasm MP:0002006 10.06 MET PDGFRA PTEN SMARCB1 CDH1 CDKN2A
13 normal MP:0002873 9.96 CDH1 EGFR GFAP KRT19 MET PDGFRA
14 no phenotypic analysis MP:0003012 9.87 CDH1 CDKN2A EGFR KRT19 MET PDGFRA
15 renal/urinary system MP:0005367 9.7 EGFR KRT7 LGALS3 MET PDGFRA PTEN
16 reproductive system MP:0005389 9.65 CDH1 CDKN2A EGFR KRT19 LGALS3 PDGFRA
17 respiratory system MP:0005388 9.28 MET PDGFRA PTEN S100A1 VIM CDKN2A

Drugs & Therapeutics for Chordoma

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

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
2
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
3
nivolumab Approved Phase 2,Phase 1 946414-94-4
4
Trioxsalen Approved Phase 2,Phase 1 3902-71-4 5585
5
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
6 Imatinib Mesylate Phase 2,Phase 1 220127-57-1 123596
7 Protein Kinase Inhibitors Phase 2,Phase 1
8 Angiogenesis Inhibitors Phase 2
9 Angiogenesis Modulating Agents Phase 2
10 Immunosuppressive Agents Phase 2,Phase 1
11 Vaccines Phase 2
12 Antibodies Phase 2,Phase 1
13 Antibodies, Monoclonal Phase 2,Phase 1
14 Immunoglobulins Phase 2,Phase 1
15 Dermatologic Agents Phase 2,Phase 1
16 Dihematoporphyrin Ether Phase 2,Phase 1
17 Ether Phase 2,Phase 1
18 Hematoporphyrin Derivative Phase 2,Phase 1
19 Hematoporphyrins Phase 2,Phase 1
20 Photosensitizing Agents Phase 2,Phase 1
21
Cobalt Phase 2 7440-48-4 104729
22 Pharmaceutical Solutions Phase 2
23 Brewer's Yeast Nutraceutical Phase 2
24 lysine Nutraceutical Phase 2,Phase 1
25
Panobinostat Approved, Investigational Phase 1 404950-80-7 6918837
26
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
27
Amifostine Approved, Investigational Phase 1 20537-88-6 2141
28
Busulfan Approved, Investigational Phase 1 55-98-1 2478
29
Lenograstim Approved, Investigational Phase 1 135968-09-1
30
Melphalan Approved Phase 1 148-82-3 4053 460612
31
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
32 Histone Deacetylase Inhibitors Phase 1
33 Mitogens Phase 1
34 Adjuvants, Immunologic Phase 1,Not Applicable
35 Protective Agents Phase 1,Not Applicable
36 Alkylating Agents Phase 1
37 Antineoplastic Agents, Alkylating Phase 1
38 Antirheumatic Agents Phase 1
39 Liver Extracts Phase 1
40 Radiation-Protective Agents Phase 1
41
Hyaluronic acid Approved, Vet_approved Not Applicable 9004-61-9 53477741
42
Povidone Approved Not Applicable 9003-39-8
43
Menthol Approved 2216-51-5 16666
44 Misonidazole Investigational Not Applicable 13551-87-6
45 Blood Substitutes Not Applicable
46 Plasma Substitutes Not Applicable
47 Viscosupplements Not Applicable
48 Anti-Infective Agents Not Applicable
49 Antiparasitic Agents Not Applicable
50 Antiprotozoal Agents Not Applicable

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Stereotactic Body Radiotherapy for Head and Neck Tumors Unknown status 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 QUILT-3.011 Phase 2 Yeast-Brachyury Vaccine Chordoma Recruiting NCT02383498 Phase 2
12 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
13 Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
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 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 HSV1716 in Patients With Non-Central Nervous System (Non-CNS) Solid Tumors Completed NCT00931931 Phase 1
22 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
23 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)
24 Nivolumab With or Without Stereotactic Radiosurgery in Treating Patients With Recurrent, Advanced, or Metastatic Chordoma Recruiting NCT02989636 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 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Active, not recruiting NCT02601937 Phase 1 Tazemetostat
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 Not Applicable 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 Not Applicable
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 Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes Recruiting NCT01200680
36 Sacral Chordoma: Surgery Versus Definitive Radiation Therapy in Primary Localized Disease Recruiting NCT02986516 Not Applicable
37 Randomized Carbon Ions vs Standard Radiotherapy for Radioresistant Tumors Recruiting NCT02838602 Not Applicable
38 A Study of IMRT in Primary Bone and Soft Tissue Sarcoma Recruiting NCT02520128 Not Applicable
39 Effect of High Doses of Radiation on Bone Structure and Metabolism Recruiting NCT02323295 Not Applicable
40 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
41 Stereotactic Body Radiotherapy for Spine Tumors Active, not recruiting NCT01347307 Not Applicable
42 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Active, not recruiting NCT00919269

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 29

Anatomical Context for Chordoma

MalaCards organs/tissues related to Chordoma:

41
Bone, Lung, Liver, Brain, Pituitary, Bone Marrow, Thyroid

Publications for Chordoma

Articles related to Chordoma:

(show top 50) (show all 907)
# Title Authors Year
1
Letter to the Editor. Brachyury as prognostic biomarker in chordoma. ( 29701545 )
2018
2
SNF5 as a prognostic factor in skull base chordoma. ( 29222701 )
2018
3
Computed tomography and magnetic resonance imaging features of cervical chordoma. ( 29963156 )
2018
4
Clinical experience of intracranial chordoma - A systematic review and meta-analysis of the literature. ( 29724651 )
2018
5
In Reply: Cranial Chordoma: A New Preoperative Grading System. ( 29672767 )
2018
6
Letter: Cranial Chordoma: A New Preoperative Grading System. ( 29672759 )
2018
7
A historical recount of chordoma. ( 29393831 )
2018
8
Analysis of prognostic factors for survival in patients with primary spinal chordoma using the SEER Registry from 1973 to 2014. ( 29625617 )
2018
9
Humeral metastasis of sacrococcygeal chordoma detected by fluorine-18 fluorodeoxyglucose positron emission tomography-computed tomography: A case report. ( 29904494 )
2018
10
Clinicopathologic implications of CD8<sup>+</sup>/Foxp3<sup>+</sup>ratio and miR-574-3p/PD-L1 axis in spinal chordoma patients. ( 29051990 )
2018
11
Intradural cervical chordoma with diffuse spinal leptomeningeal spread: case report and review of the literature. ( 29313091 )
2018
12
Chordoma ( 28613596 )
2018
13
Tumor Reduction with Pazopanib in a Patient with Recurrent Lumbar Chordoma. ( 29850323 )
2018
14
Extended endoscopic endonasal surgery for clival chordoma and chondrosarcoma: Our experience in 14 cases. ( 29691145 )
2018
15
Prospective validation of a molecular prognostication panel for clival chordoma. ( 29905508 )
2018
16
Radiofrequency ablation in gross total excision of cervical chordoma: ideas and technique. ( 29915886 )
2018
17
Analysis of clinical factors and PDGFR-I^ in predicting prognosis of patients with clival chordoma. ( 29303447 )
2018
18
Clival chordoma with drop metastases. ( 29875988 )
2018
19
A giant lumbar chordoma: A case report. ( 29924012 )
2018
20
Role of the Apparent Diffusion Coefficient as a Predictor of Tumor Progression in Patients with Chordoma. ( 29724767 )
2018
21
The Sellar Tumor: Metastasis or Chordoma? ( 29381634 )
2018
22
Cryosurgery in the excision of a giant local recurrent sacral chordoma: a case report and literature review. ( 29372428 )
2018
23
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
24
miR-16-5p inhibits chordoma cell proliferation, invasion and metastasis by targeting Smad3. ( 29880900 )
2018
25
The embryonic transcription factor Brachyury confers chordoma chemoresistance via upregulating CA9. ( 29636883 )
2018
26
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
27
Sacral chordoma : A review of literature. ( 29881220 )
2018
28
Cardiac Metastasis from Clivus Chordoma. ( 29454123 )
2018
29
Osteosarcoma, Chondrosarcoma, and Chordoma. ( 29220289 )
2018
30
Clival Chordoma With Brainstem Invasion. ( 29325600 )
2018
31
State-of-the-Art Imaging in Human Chordoma of the Skull Base. ( 29629241 )
2018
32
Comparison of the effectiveness of radiotherapy with photons and particles for chordoma after surgery: a meta-analysis. ( 29879512 )
2018
33
Removal of a low clival chordoma in a teenager by dorsolateral suboccipital transcondylar approach. ( 28761544 )
2017
34
Letter to the Editor: Influence of age on survival outcomes in patients with spinal chordoma. ( 28291405 )
2017
35
Pediatric Clival Chordoma: A Curable Disease that Conforms to Collins' Law. ( 28521059 )
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 )
2017
37
Immunophenotypic features of dedifferentiated skull base chordoma: An insight into the intratumoural heterogeneity. ( 29416431 )
2017
38
In Reply: Factors Predicting Recurrence After Resection of Clival Chordoma Using Variable Surgical Approaches and Radiation Modalities. ( 28379552 )
2017
39
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 )
2017
40
Establishment and genomic characterization of the new chordoma cell line Chor-IN-1. ( 28835717 )
2017
41
Leukemia Inhibitory Factor Promotes Aggressiveness of Chordoma. ( 28247842 )
2017
42
MR Imaging Grading System for Skull Base Chordoma. ( 28428207 )
2017
43
EM proves invaluable in the confirmation of chordoma in the sacral mass of a middle-aged man. ( 28524812 )
2017
44
UM-Chor1: establishment and characterization of the first validated clival chordoma cell line. ( 28430034 )
2017
45
Intradural Chordoma of Cerebellopontine Angle: Case Report and Review. ( 28866065 )
2017
46
Managing bowel and bladder impairments in sacral chordoma patients: a case-based approach. ( 29423299 )
2017
47
Expression of Cathepsin K in Skull Base Chordoma. ( 28216213 )
2017
48
5-Aminolevulinic acid-based photodynamic therapy of chordoma: in vitro experiments on a human tumor cell line. ( 28951177 )
2017
49
Phase 2 study of dasatinib in patients with alveolar soft part sarcoma, chondrosarcoma, chordoma, epithelioid sarcoma, or solitary fibrous tumor. ( 27696380 )
2017
50
What Are the Conditional Survival and Functional Outcomes After Surgical Treatment of 115 Patients With Sacral Chordoma? ( 26975382 )
2017

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 GRCh38 Location Conf
1 COSM6976986 SETD2 bone,sacrum,chordoma,NS c.3341C>T p.A1114V 3:47103413-47103413 20
2 COSM1307 KIT bone,sacrum,chordoma,NS c.2394C>T p.I798I 4:54733102-54733102 20
3 COSM21983 KIT bone,sacrum,chordoma,NS c.1638A>G p.K546K 4:54727315-54727315 20
4 COSM6976985 bone,sacrum,chordoma,NS c.4850C>T p.A1617V 3:47103413-47103413 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

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 CDH1 CEACAM3 CTSK EGFR LGALS3 MET
2
Show member pathways
13.75 CDH1 CDKN2A DES EGFR GFAP MET
3 12.69 CDH1 CDKN2A EGFR MET PDGFRA PTEN
4
Show member pathways
12.55 CDH1 CDKN2A EGFR MET PDGFRA PTEN
5
Show member pathways
12.51 CDH1 CDKN2A EGFR MET PTEN SMARCB1
6 12.12 CDH1 DES KRT19 KRT7 MUC1 VIM
7 12.01 EGFR MET PDGFRA PTEN
8
Show member pathways
11.95 EGFR MET PDGFRA
9 11.94 KRT19 MET TBXT VIM
10 11.91 CDKN2A EGFR MET PDGFRA PTEN VIM
11 11.86 EGFR GFAP LGALS3 VIM
12 11.78 CDKN2A EGFR PDGFRA PTEN
13
Show member pathways
11.74 CDH1 EGFR MET
14 11.62 CDH1 CDKN2A EGFR
15 11.6 CDH1 EGFR MET
16 11.52 GFAP PDGFRA S100B VIM
17 11.43 CDKN2A EGFR PDGFRA
18 11.37 EGFR MET PDGFRA PTEN
19 11.3 CDH1 EGFR MET
20 11.12 CDH1 EGFR MET
21
Show member pathways
11.05 DES GFAP KRT19 KRT7 VIM
22 10.71 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 cytoplasm GO:0005737 9.86 CDH1 CDKN2A CTSK DES EGFR GFAP
2 extracellular region GO:0005576 9.81 CDH1 CTSK EGFR LGALS3 MET MUC1
3 intermediate filament GO:0005882 9.02 DES GFAP KRT19 KRT7 VIM

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 EGFR PDGFRA PTEN S100B TBXT
2 viral process GO:0016032 9.83 KRT19 KRT7 PDGFRA SMARCB1 VIM
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 EGFR MET PDGFRA PTEN
4 positive regulation of kinase activity GO:0033674 9.63 EGFR MET PDGFRA
5 learning or memory GO:0007611 9.5 EGFR PTEN S100B
6 entry of bacterium into host cell GO:0035635 9.49 CDH1 MET
7 Bergmann glial cell differentiation GO:0060020 9.4 GFAP VIM
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.37 CDKN2A PTEN
9 long-term synaptic potentiation GO:0060291 9.33 GFAP PTEN S100B
10 positive regulation of histone H4 acetylation GO:0090240 9.26 MUC1 SMARCB1
11 intermediate filament-based process GO:0045103 8.96 GFAP VIM
12 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 MAP kinase kinase kinase activity GO:0004709 9.54 EGFR MET PDGFRA
2 mitogen-activated protein kinase kinase binding GO:0031434 9.5 EGFR MET PDGFRA
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 EGFR MET PDGFRA
4 S100 protein binding GO:0044548 9.4 S100A1 S100B
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 EGFR MET PDGFRA
6 identical protein binding GO:0042802 9.28 CDH1 DES EGFR GFAP MET PTEN
7 structural constituent of cytoskeleton GO:0005200 9.26 DES GFAP KRT19 VIM

Sources for Chordoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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