CHDM
MCID: CHR072
MIFTS: 56

Chordoma (CHDM)

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

Aliases & Classifications for Chordoma

MalaCards integrated aliases for Chordoma:

Name: Chordoma 57 12 73 20 43 58 72 29 54 6 44 15 70
Chdm 57 43 72
Chordoma, Susceptibility to 57 13
Notochordal Sarcoma 43 58
Notochordoma 12 43
Chordoepithelioma 43
Chordocarcinoma 43

Characteristics:

Orphanet epidemiological data:

58
chordoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (United States); Age of onset: Adult; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
median age at diagnosis, 59 years


HPO:

31
chordoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:3302
OMIM® 57 215400
MeSH 44 D002817
NCIt 50 C2947
SNOMED-CT 67 50007008
MESH via Orphanet 45 D002817
ICD10 via Orphanet 33 C76.7
UMLS via Orphanet 71 C0008487
Orphanet 58 ORPHA178
MedGen 41 C0008487
SNOMED-CT via HPO 68 263681008
UMLS 70 C0008487

Summaries for Chordoma

GARD : 20 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 inherited duplication 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 chondrosarcoma. An important gene associated with Chordoma is CHDM (Chordoma), and among its related pathways/superpathways are Cytoskeleton remodeling Neurofilaments and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Dasatinib and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and spinal cord, 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.

MedlinePlus Genetics : 43 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.Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function.Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 516)
# Related Disease Score Top Affiliating Genes
1 chondroid chordoma 32.7 VIM TBXT SMARCB1 SERPINA3 S100A1 MUC1
2 chondrosarcoma 31.3 VIM SERPINA3 S100B S100A1 PDGFRA MUC1
3 myxoid chondrosarcoma 31.1 SMARCB1 S100B MUC1
4 fibrous histiocytoma 31.1 VIM SERPINA3 S100B
5 parachordoma 30.9 VIM S100A1 MUC1 KRT7 GFAP
6 tuberous sclerosis 30.8 VIM S100B PDGFRB GFAP
7 secretory meningioma 30.8 VIM SMARCB1 SERPINA3 MUC1 KRT7
8 cellular ependymoma 30.8 VIM S100B NCAM1 MUC1 GFAP
9 malignant fibrous histiocytoma 30.8 VIM SERPINA3 S100B PDGFRB MUC1
10 spindle cell sarcoma 30.7 VIM SERPINA3 S100B MUC1 KRT7
11 sarcoma 30.6 VIM SMARCB1 S100B PDGFRA MUC1
12 neurofibroma 30.6 VIM S100B S100A1 PDGFRA MUC1
13 hydrocephalus 30.6 SMARCB1 SERPINA3 S100B PDGFRB GFAP
14 mucinous adenocarcinoma 30.6 VIM MUC1 KRT7 KRT19
15 chordoid meningioma 30.5 VIM S100B S100A1 NCAM1 MUC1 GFAP
16 non-functioning pituitary adenoma 30.5 S100B MUC1
17 rhabdoid cancer 30.5 VIM SMARCB1 SERPINA3 MUC1
18 embryonal sarcoma 30.4 VIM SERPINA3 S100B
19 myxopapillary ependymoma 30.4 VIM S100B NCAM1 MUC1 MN1 GFAP
20 papillary ependymoma 30.4 S100B GFAP
21 atypical teratoid rhabdoid tumor 30.3 VIM SMARCB1 S100B S100A1 MUC1 GFAP
22 malignant astrocytoma 30.3 VIM SERPINA3 S100B PDGFRA GFAP
23 pleomorphic adenoma 30.3 VIM S100B S100A1 MUC1 KRT7 GFAP
24 rhabdoid meningioma 30.2 VIM SMARCB1 GFAP
25 myoepithelioma 30.2 VIM SMARCB1 S100B S100A1 MUC1 GFAP
26 fibroma 30.2 VIM SERPINA3 S100A1
27 benign giant cell tumor 30.2 VIM SERPINA3 MUC1
28 mesenchymal chondrosarcoma 30.2 VIM SMARCB1 PDGFRA MUC1 KRT7
29 benign mesothelioma 30.2 VIM KRT7 KRT19
30 smooth muscle tumor 30.2 VIM SERPINA3 S100A1
31 angiosarcoma 30.1 VIM MUC1 KRT7
32 epithelioid sarcoma 30.1 VIM SMARCB1 MUC1 KRT7
33 meningioma, familial 30.1 VIM SMARCB1 SERPINA3 S100B S100A1 PDGFRB
34 carcinosarcoma 30.1 VIM S100A1 MUC1 KRT7
35 hemangiopericytoma, malignant 30.1 VIM SERPINA3 S100B MUC1
36 cystadenocarcinoma 30.1 VIM SERPINA3 MUC1 KRT7
37 clear cell renal cell carcinoma 30.1 VIM PDGFRB MUC1 MIR140 KRT7
38 neurilemmoma 30.1 VIM SMARCB1 SERPINA3 S100B S100A1 PDGFRB
39 myofibroma 30.1 SERPINA3 S100A1 PDGFRB
40 ovarian germ cell teratoma 30.0 KRT7 KRT19
41 thyroid gland follicular carcinoma 30.0 NCAM1 LGALS3 KRT7 KRT19
42 papillary carcinoma 30.0 S100A1 MUC1 LGALS3 KRT7 KRT19
43 mesenchymal cell neoplasm 29.9 SERPINA3 PDGFRB PDGFRA
44 hemangioblastoma 29.9 VIM TBXT S100B PDGFRB MUC1 GFAP
45 spinal disease 29.9 SERPINA3 PDGFRA MIR140 GFAP
46 small cell carcinoma 29.8 PDGFRA NCAM1 MUC1 KRT7 KRT19
47 renal cell carcinoma, nonpapillary 29.8 VIM S100A1 PDGFRB PDGFRA MUC1 MIR140
48 sarcoma, synovial 29.8 VIM SMARCB1 SERPINA3 S100B MUC1 KRT7
49 malignant peripheral nerve sheath tumor 29.8 VIM SMARCB1 S100B S100A1 PDGFRB PDGFRA
50 leiomyosarcoma 29.6 VIM SERPINA3 S100B S100A1 PDGFRB PDGFRA

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to Chordoma

Symptoms & Phenotypes for Chordoma

Human phenotypes related to Chordoma:

31
# Description HPO Frequency 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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Skull:
sphenooccipital chordoma
nasopharyngeal chordoma

Skeletal Spine:
vertebral chordoma
sacrococcygeal chordoma

Clinical features from OMIM®:

215400 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Chordoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 GFAP LGALS3 MN1 NCAM1 PDGFRA PDGFRB
2 digestive/alimentary MP:0005381 9.23 GFAP KRT19 LGALS3 MN1 PDGFRA PDGFRB

Drugs & Therapeutics for Chordoma

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
2
nivolumab Approved Phase 2 946414-94-4
3
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
4
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
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
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
9
Pertuzumab Approved Phase 1, Phase 2 380610-27-5, 145040-37-5 2540
10
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
11
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
12
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
13
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
14
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
15
Vinblastine Approved Phase 1, Phase 2 865-21-4 13342 241903
16
Coal tar Approved Phase 1, Phase 2 8007-45-2
17
Cobalt Approved, Experimental Phase 2 7440-48-4 104729
18 Imatinib Mesylate Phase 2 220127-57-1 123596
19 Protein Kinase Inhibitors Phase 2
20 Pharmaceutical Solutions Phase 2
21 Immunoglobulin G Phase 2
22 Immunoglobulins Phase 1, Phase 2
23 Immunoglobulins, Intravenous Phase 2
24 Antibodies Phase 1, Phase 2
25 Antibodies, Monoclonal Phase 2
26 Radiopharmaceuticals Phase 2
27 Fluoroazomycin arabinoside Phase 2
28 Ado-trastuzumab emtansine Phase 1, Phase 2
29 Iron-Dextran Complex Phase 1, Phase 2
30 Anti-Bacterial Agents Phase 1, Phase 2
31 Antibiotics, Antitubercular Phase 1, Phase 2
32 Antifungal Agents Phase 1, Phase 2
33 Anti-Infective Agents Phase 1, Phase 2
34 Brewer's Yeast Phase 2
35
Panobinostat Approved, Investigational Phase 1 404950-80-7 6918837
36
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
37
Hydroxocobalamin Approved Phase 1 13422-51-0 11953898 15589840
38
Pemetrexed Approved, Investigational Phase 1 150399-23-8, 137281-23-3 446556 60843
39
Methylcobalamin Approved, Investigational Phase 1 13422-55-4
40
Levoleucovorin Approved, Investigational Phase 1 68538-85-2 149436
41
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
42
Ibuprofen Approved Phase 1 15687-27-1 3672
43
Sargramostim Approved, Investigational Phase 1 123774-72-1, 83869-56-1
44
Melphalan Approved Phase 1 148-82-3 4053 460612
45
Amifostine Approved, Investigational Phase 1 20537-88-6 2141
46
Busulfan Approved, Investigational Phase 1 55-98-1 2478
47
Lenograstim Approved, Investigational Phase 1 135968-09-1
48
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
49
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
50
Cyanocobalamin Approved, Nutraceutical Phase 1 68-19-9 44176380

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Phase IV Trial to Use Stereotactic Body Radiotherapy for Head and Neck Tumors Completed NCT01344356 Phase 4
2 Randomised Trial of Proton vs. Carbon Ion Radiation Therapy in Patients With Chordoma of the Skull Base -Clinical Phase III Study- Recruiting NCT01182779 Phase 3
3 Phase II Study of Imatinib Mesylate in Chordoma Completed NCT00150072 Phase 2 imatinib
4 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
5 Randomized Study of Charged Particle RT for Chordomas and Chondrosarcomas of the Base of Skull or Cervical Spine Completed NCT00592748 Phase 1, Phase 2
6 A Phase II Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
7 A Prospective, Multicentre, Open-label, Randomised Phase 2 Trial to Study the Efficacy and Safety of Anlotinib Hydrochloride Versus Imatinib Mesylate in Locally Advanced, Unresectable or Metastatic Chordoma Recruiting NCT04042597 Phase 2 Anlotinib Hydrochloride
8 Hypofractionated Ion Irradiation (Protons or Carbon Ions) of Sacrococcygeal Chordoma Recruiting NCT01811394 Phase 2
9 A Signal Finding Phase 2 Study of Nivolumab (Anti-PD-1; BMS-936558; ONO-4538) and Relatlimab (Anti-LAG-3 Monoclonal Antibody; BMS-986016) in Patients With Advanced Chordoma Recruiting NCT03623854 Phase 2
10 The TNT Protocol: A Phase 2 Study Using Talimogene Laherparepvec,Nivolumab and Trabectedin as First, Second/Third Line Therapy for Advanced Sarcoma, Including Desmoid Tumor and Chordoma 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
11 CDK4/6 Inhibition in Locally Advanced/Metastatic Chordoma (NCT-PMO-1601) Recruiting NCT03110744 Phase 2 Palbociclib
12 A Phase 2, Single Arm, European Multi-center Trial Evaluating the Efficacy of Afatinib as First-line or Later-line Treatment in Advanced Chordoma. Recruiting NCT03083678 Phase 2 Afatinib
13 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
14 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
15 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
16 Phase 1/2 Expansion Cohorts Trial of Intravenous Administration of TAEK-VAC-HerBy Vaccine Alone and in Combination With HER2- and PD-1/PD-L1 Antibodies in Patients With Advanced HER2-expressing Cancer Recruiting NCT04246671 Phase 1, Phase 2
17 Phase 2 Proof of Concept Study of Nivolumab and Ipilimumab in Children and Young Adults With Relapsed or Refractory INI1-negative Cancers Recruiting NCT04416568 Phase 2 Nivolumab;Ipilimumab
18 A Phase 1/2 Study Using Nivolumab and ABI-009 for Advanced Sarcoma, Advanced Carcinoma Treated With PD1 Inhibitors, and Tumors With Genetic Mutations Sensitive to mTOR Inhibitors Recruiting NCT03190174 Phase 1, Phase 2 Nab-Rapamycin
19 A Phase 1/2 Safety Study of Intratumorally Administered INT230-6 in Adult Subjects With Advanced Refractory Cancers Recruiting NCT03058289 Phase 1, Phase 2 INT230-6
20 A Phase 2 Trial of BN-Brachyury and Radiation Therapy in Patients With Advanced Chordoma Active, not recruiting NCT03595228 Phase 2
21 Phase II Evaluation of Proton Beam Therapy for Skull Base Chordoma Active, not recruiting NCT00496119 Phase 2
22 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 Active, not recruiting NCT02383498 Phase 2
23 QUILT-3.091 NANT Chordoma Vaccine: A Randomized Phase 1b/2 Trial of the NANT Chordoma Vaccine vs. Radiation in Subjects With Unresectable Chordoma. Withdrawn NCT03647423 Phase 1, Phase 2 Avelumab;Cetuximab;Cyclophosphamide
24 Multicenter Phase I 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 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate in Patient With Rare Tumor (Phase I Study) Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
26 A Phase I Dose Escalation Study of Intratumoral or Intravenous Herpes Simplex Virus-1 Mutant HSV1716 in Patients With Refractory Non-Central Nervous System (Non-CNS) Solid Tumors Completed NCT00931931 Phase 1
27 Phase I Safety Study of Stereotactic Radiosurgery With Concurrent and Adjuvant PD-1 Antibody Nivolumab in Subjects With Recurrent or Advanced Chordoma Recruiting NCT02989636 Phase 1
28 Pilot Study of Pemetrexed for the Treatment of Chordoma Recruiting NCT03955042 Phase 1 Pemetrexed
29 First-in-Human, Phase 1/1b, Open-label, Multicenter Study of Bifunctional EGFR/TGFβ Fusion Protein BCA101 Alone and in Combination With Pembrolizumab in Patients With EGFR-Driven Advanced Solid Tumors Recruiting NCT04429542 Phase 1 BCA101;Pembrolizumab
30 Phase I Study of Nilotinib Given With Radiation For Patients With High Risk Chordoma Active, not recruiting NCT01407198 Phase 1 Nilotinib
31 A Phase I, Open-label, Multi-center Dose Escalation Study of FAZ053 as Single Agent and in Combination With PDR001 in Adult Patients With Advanced Malignancies Active, not recruiting NCT02936102 Phase 1 FAZ053;PDR001
32 A Phase I Study of the Chemoprotectant Amifostine With Autologous Stem Cell Transplantation for High Risk or Relapsed Pediatric Solid Tumors and Brain Tumors Terminated NCT00003926 Phase 1 amifostine trihydrate;busulfan;filgrastim;melphalan;thiotepa
33 Efficacy of Gelclair™ in Reducing the Pain of Oral Mucositis in Children and Young People With Cancer (SC 2005 07) Unknown status NCT00349024 polyvinylpyrrolidone-sodium hyaluronate gel
34 Pilot Study of the Effect of High Doses of Radiation on Bone Metabolism and Structure in Patients Treated With Adjuvant Radiotherapy and Surgery for Sacral Tumors Unknown status NCT02323295
35 The Chordoma Family Study: A Pilot Collaboration Between NCI and Massachusetts General Hospital (MGH) to Identify Chordoma Families Completed NCT00410670
36 Genetic Aspects of Chordoma: A Collaboration With SEER Registries to Identify Chordoma Families Completed NCT00341627
37 Hypoxia-PET and IMPT Dose Painting in Patients With Chordomas: A Pilot Study Completed NCT00713037
38 Immunohistochemical Study of Chordomas to Improve Their Diagnosis and Prognosis Care Completed NCT04486820
39 A Clinical Outcomes Protocol of Proton Beam Radiation Therapy for Chordomas and/or Chondrosarcomas of the Base of Skull and/or Spine Completed NCT00797602
40 A Phase II Study of Intensity Modulated Radiotherapy (IMRT) for Patients With Primary Bone and Soft Tissue Sarcoma Completed NCT02520128
41 Observational - Potentially Actionable Mutations in Archived Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) Completed NCT01567046
42 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Spine Metastases and Primary Spine Tumors Completed NCT01347307
43 Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes Recruiting NCT01200680
44 Sperimentazione Clinica Del Sistema INSIDE - Innovative SolutIons for DosimEtry in Hadrontherapy - Per il Monitoraggio Del Trattamento in Adroterapia Recruiting NCT03662373
45 Natural History Study of Children and Adults With Chordoma Recruiting NCT03910465
46 Title of Study: SAcral Chordoma: a Randomized & Observational Study on Surgery Versus Definitive Radiation Therapy in Primary Localized Disease (SACRO) Recruiting NCT02986516
47 Transnational Randomized Study Comparing Carbon Ions Therapy Versus Conventional Radiotherapy - Including Protontherapy - for the Treatment of Radioresistant Tumors Recruiting NCT02838602
48 A Prospective Longitudinal Quality of Life Study in Patients Undergoing Endoscopic Endonasal Skull Base Surgery Recruiting NCT04087902
49 Phase II Study of High Dose Intensity Modulated Proton Radiation Treatment +/- Surgical Resection of Sarcomas of the Spine, Sacrum and Base of Skull Active, not recruiting NCT01346124
50 Proton Radiation For Chordomas and Chondrosarcomas Active, not recruiting NCT01449149

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:

40
Bone, Pituitary, Spinal Cord, Brain, Thyroid, Myeloid, Lung

Publications for Chordoma

Articles related to Chordoma:

(show top 50) (show all 3493)
# Title Authors PMID Year
1
A common single-nucleotide variant in T is strongly associated with chordoma. 57 61
23064415 2012
2
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. 61 57
21266383 2011
3
T (brachyury) gene duplication confers major susceptibility to familial chordoma. 57 61
19801981 2009
4
Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. 57 61
11452362 2001
5
Chordoma: incidence and survival patterns in the United States, 1973-1995. 57 61
11227920 2001
6
Familial chordoma with probable autosomal dominant inheritance. 61 57
9475610 1998
7
Chordoma in siblings. 57 61
13523418 1958
8
Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2. 57
15236319 2004
9
Characterization and analysis of human chordoma cell lines. 54 61
20461036 2010
10
Novel immunohistochemical markers in the diagnosis of nonglial tumors of nervous system. 61 54
20179436 2010
11
Gastrointestinal stromal tumor and other primary metachronous or synchronous neoplasms as a suspicion criterion for syndromic setting. 61 54
20043105 2010
12
Mandibular metastasis from a skull base chordoma: report of a case with review of literature. 61 54
20190948 2009
13
Distinguishing chordoid meningiomas from their histologic mimics: an immunohistochemical evaluation. 61 54
19194275 2009
14
Immunohistochemical comparison of chordoma with chondrosarcoma, myxopapillary ependymoma, and chordoid meningioma. 54 61
19521276 2009
15
Brachyury, SOX-9, and podoplanin, new markers in the skull base chordoma vs chondrosarcoma differential: a tissue microarray-based comparative analysis. 61 54
18820665 2008
16
Diagnosing an extra-axial chordoma of the proximal tibia with the help of brachyury, a molecule required for notochordal differentiation. 54 61
16810540 2007
17
D2-40 functions as an effective chondroid marker distinguishing true chondroid tumors from chordoma. 61 54
17021752 2007
18
Molecular and biochemical analyses of platelet-derived growth factor receptor (PDGFR) B, PDGFRA, and KIT receptors in chordomas. 61 54
17145809 2006
19
Cutaneous metastatic chordoma with concomitant tuberous sclerosis. 54 61
16843131 2006
20
Cadherins and catenins in clival chordomas: correlation of expression with tumor aggressiveness. 54 61
16224208 2005
21
Parachordoma is not distinguishable from axial chordoma using immunohistochemistry. 54 61
15086843 2004
22
Expression of cell adhesion molecules in chordomas: an immunohistochemical study of 16 cases. 54 61
14608467 2004
23
[Dedifferentiated chordoma of the skull base. A case report]. 54 61
12483123 2002
24
Galectin-3: a biologic marker and diagnostic aid for chordoma. 54 61
11953597 2002
25
Expression of E-cadherin in chordomas: diagnostic marker and possible role of tumor cell affinity. 61 54
11964040 2002
26
Immunohistochemical analysis of E-cadherin, alpha-catenin, beta-catenin, gamma-catenin, and neural cell adhesion molecule (NCAM) in chordoma. 61 54
11729215 2001
27
Ectopic chordoma with orbital invasion. 61 54
11239887 2001
28
Sarcomatoid chordoma: chordoma with a massive malignant spindle-cell component. 54 61
11271555 2000
29
Parachordoma is immunohistochemically and cytogenetically distinct from axial chordoma and extraskeletal myxoid chondrosarcoma. 61 54
10478665 1999
30
Sacral chordoma in early childhood: clinicopathological and immunohistochemical study. 61 54
9688766 1998
31
Cutaneous parachordoma. A light microscopic and immunohistochemical report of two cases and review of the literature. 54 61
9696295 1998
32
Keratin subsets and monoclonal antibody HBME-1 in chordoma: immunohistochemical differential diagnosis between tumors simulating chordoma. 54 61
9490269 1998
33
Detection and distribution of the carbohydrate binding protein galectin-3 in human notochord, intervertebral disc and chordoma. 54 61
9447709 1997
34
Cytokeratin subtyping in chordomas and the fetal notochord: an immunohistochemical analysis of aberrant expression. 61 54
9195570 1997
35
[Intracranial chordomas; histochemical and immunohistochemical examinations]. 54 61
9235522 1997
36
[A clinicopathological and immunohistochemical study of 34 cases of chordoma]. 54 61
9275666 1996
37
[Significance of immunohistochemical study in the diagnosis and differential diagnosis of chordoma]. 61 54
8697996 1995
38
Chordoid tumor: a light, electron microscopic, and immunohistochemical study. 61 54
7571087 1995
39
Chondroid chordoma. A hyalinized chordoma without cartilaginous differentiation. 61 54
7532910 1995
40
Malignant fibrous histiocytoma in chordoma--immunohistochemical evidence of transformation from chordoma to malignant fibrous histiocytoma. 61 54
8091802 1994
41
Chondroid chordoma--a variant of chordoma. A morphologic and immunohistochemical study. 54 61
7506477 1994
42
Immunohistochemical and ultrastructural study of skull base chordomas. 54 61
7512866 1994
43
Chondroid chordoma versus low-grade chondrosarcoma of the base of the skull: can immunohistochemistry resolve the controversy? 61 54
7525890 1994
44
Chordoma and chondroid neoplasms of the spheno-occiput. An immunohistochemical study of 41 cases with prognostic and nosologic implications. 61 54
7693324 1993
45
An immunohistochemical comparison of chordoma with renal cell carcinoma, colorectal adenocarcinoma, and myxopapillary ependymoma: a potential diagnostic dilemma in the diminutive biopsy. 54 61
7504258 1993
46
Myasthenia gravis in a man with a history of chordoma: observations of muscle-like antigens in carcinoma. 54 61
8454279 1993
47
Tumors of the sellar region mimicking pituitary adenomas. 61 54
8299704 1993
48
Chondroid chordomas and low-grade chondrosarcomas of the craniospinal axis. An immunohistochemical analysis of 17 cases. 61 54
1463093 1992
49
[Coexpression of intermediate filaments in notochords and chordomas and its significance in the histogenesis and diagnosis of chordoma]. 61 54
1283974 1992
50
Expression of intermediate filaments in chordomas. An immunocytochemical study of five cases. 61 54
1280357 1992

Variations for Chordoma

ClinVar genetic disease variations for Chordoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MN1 NM_002430.3(MN1):c.785del (p.Gly262fs) Deletion Likely pathogenic 635174 rs1568986066 GRCh37: 22:28195747-28195747
GRCh38: 22:27799759-27799759
2 MN1 NM_002430.3(MN1):c.772_776del (p.His258fs) Deletion Likely pathogenic 635175 rs1568986076 GRCh37: 22:28195756-28195760
GRCh38: 22:27799768-27799772

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 COSM103047499 SETD2 bone,sacrum,chordoma,NS c.4850C>T p.A1617V 3:47103413-47103413 12
2 COSM149757174 SETD2 bone,sacrum,chordoma,NS c.500C>T p.A167V 3:47103413-47103413 12
3 COSM88312821 KIT bone,sacrum,chordoma,NS c.2394C>T p.I798= 4:54733102-54733102 12
4 COSM88315846 KIT bone,sacrum,chordoma,NS c.1638A>G p.K546= 4:54727315-54727315 12
5 COSM130550478 C11orf65 bone,vertebrae,chordoma,NS c.640+20552T>C p.? 11:108365368-108365368 12
6 COSM143140321 C11orf65 bone,vertebrae,chordoma,NS c.*2-9259T>C p.? 11:108365368-108365368 12
7 COSM114587624 ATM bone,vertebrae,chordoma,NS c.9031A>G p.M3011V 11:108365368-108365368 12
8 COSM88135026 ATM bone,vertebrae,chordoma,NS c.9031A>G p.M3011V 11:108365368-108365368 12

Copy number variations for Chordoma from CNVD:

7 (show top 50) (show all 470)
# CNVD ID Chromosome 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 TP53 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 RB1 Chordoma
12 25739 1 193800000 243700000 Gain Chordoma
13 28392 17 22200000 78774742 Gain ERBB2 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

GO Terms for Chordoma

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.92 VIM KRT7 KRT19 GFAP

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.73 VIM SMARCB1 PDGFRA NCAM1 KRT7 KRT19
2 positive regulation of phospholipase C activity GO:0010863 9.46 PDGFRB PDGFRA
3 cardiac myofibril assembly GO:0055003 9.43 PDGFRB PDGFRA
4 Bergmann glial cell differentiation GO:0060020 9.4 VIM GFAP
5 retina vasculature development in camera-type eye GO:0061298 9.37 PDGFRB PDGFRA
6 positive regulation of histone H4 acetylation GO:0090240 9.32 SMARCB1 MUC1
7 metanephric glomerular capillary formation GO:0072277 9.16 PDGFRB PDGFRA
8 intermediate filament-based process GO:0045103 8.96 VIM GFAP
9 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 8.62 PDGFRB PDGFRA

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

# Name GO ID Score Top Affiliating Genes
1 S100 protein binding GO:0044548 9.16 S100B S100A1
2 platelet-derived growth factor binding GO:0048407 8.96 PDGFRB PDGFRA
3 vascular endothelial growth factor binding GO:0038085 8.62 PDGFRB PDGFRA

Sources for Chordoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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