CHDSA
MCID: CHN012
MIFTS: 56

Chondrosarcoma (CHDSA)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrosarcoma

MalaCards integrated aliases for Chondrosarcoma:

Name: Chondrosarcoma 57 12 73 20 58 72 29 13 54 6 44 15 39 17 70
Cartilaginous Cancer 12 20
Primary Chondrosarcoma of the Bone 12
Chondrosarcoma of Bone 12
Chdsa 72

Characteristics:

Orphanet epidemiological data:

58
chondrosarcoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: adult,elderly;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation


HPO:

31
chondrosarcoma:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:3371
OMIM® 57 215300
MeSH 44 D002813
NCIt 50 C2946 C7155
SNOMED-CT 67 443520009 735679005
MESH via Orphanet 45 D002813
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 71 C0008479
Orphanet 58 ORPHA55880
MedGen 41 C0008479
SNOMED-CT via HPO 68 124975008 14990007
UMLS 70 C0008479 C1335473

Summaries for Chondrosarcoma

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 55880 Definition Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.

MalaCards based summary : Chondrosarcoma, also known as cartilaginous cancer, is related to chondrosarcoma, extraskeletal myxoid and extraosseous chondrosarcoma. An important gene associated with Chondrosarcoma is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Interleukin-4 and 13 signaling and Cytosine methylation. The drugs Ifosfamide and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and lung, and related phenotype is chondrosarcoma.

Disease Ontology : 12 A bone sarcoma that has material basis in cells derived from transformed cells that produce cartilage.

UniProtKB/Swiss-Prot : 72 Chondrosarcoma: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.

Wikipedia : 73 Chondrosarcoma is a bone sarcoma, a primary cancer composed of cells derived from transformed cells that... more...

More information from OMIM: 215300

Related Diseases for Chondrosarcoma

Diseases in the Chondrosarcoma family:

Localized Chondrosarcoma

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

(show top 50) (show all 527)
# Related Disease Score Top Affiliating Genes
1 chondrosarcoma, extraskeletal myxoid 33.1 TFG TAF15 NR4A3 EWSR1
2 extraosseous chondrosarcoma 32.8 TFG TAF15 NR4A3 EWSR1
3 bone chondrosarcoma 32.7 TAF15 NR4A3
4 extraskeletal mesenchymal chondrosarcoma 32.6 TAF15 NCOA2 EWSR1
5 mesenchymal chondrosarcoma 32.6 VIM SOX9 NCOA2 MUC1
6 periosteal chondrosarcoma 32.4 NCOA2 IDH2 IDH1 EXT1
7 intracranial chondrosarcoma 32.4 TAF15 IDH2 IDH1
8 myxoid chondrosarcoma 32.4 TFG TAF15 NR4A3 MUC1 MTAP EWSR1
9 clear cell chondrosarcoma 32.2 SERPINA3 IDH2
10 enchondroma 31.8 IDH2 IDH1
11 chondroid chordoma 31.7 VIM SERPINA3 MUC1
12 osteochondroma 31.4 VIM NCOA2 EXT2 EXT1
13 exostosis 31.2 MMP13 EXT2 EXT1
14 hereditary multiple osteochondromas 31.1 EXT2 EXT1
15 multiple enchondromatosis, maffucci type 31.0 IDH2 IDH1 EXT2 EXT1
16 spindle cell sarcoma 30.9 VIM SERPINA3 NCOA2 MUC1 EWSR1
17 secretory meningioma 30.9 VIM SERPINA3 MUC1
18 enchondromatosis, multiple, ollier type 30.9 MMP13 IDH2 IDH1 EXT2 EXT1
19 sarcoma 30.8 VIM NR4A3 MUC1 MTAP EWSR1
20 liposarcoma 30.8 VIM TAF15 EWSR1
21 ewing sarcoma 30.7 VIM TAF15 NR4A3 EWSR1
22 chordoma 30.7 VIM SOX9 SERPINA3 MUC1 MTAP
23 chondroblastic osteosarcoma 30.7 SERPINA3 IDH2 IDH1
24 hemangiopericytoma, malignant 30.7 VIM SERPINA3 MUC1
25 hemangioma 30.7 VIM MUC1 IDH2 IDH1
26 fibrous histiocytoma 30.6 VIM SERPINA3 MTAP EWSR1
27 juxtacortical chondroma 30.6 IDH2 IDH1 EXT2 EXT1
28 malignant fibrous histiocytoma 30.5 VIM SERPINA3 MUC1 MTAP EWSR1
29 parachordoma 30.4 VIM MUC1
30 leiomyosarcoma 30.4 VIM SERPINA3 MUC1
31 embryonal sarcoma 30.3 VIM SERPINA3
32 sarcoma, synovial 30.3 VIM SERPINA3 MUC1 EWSR1
33 myoepithelioma 30.2 VIM MUC1 EWSR1
34 benign giant cell tumor 30.2 VIM SERPINA3 MUC1
35 chordoid meningioma 30.2 VIM MUC1
36 bone sarcoma 30.2 SERPINA3 NR4A3 MTAP IDH2 IDH1 EXT2
37 rhabdoid cancer 30.1 VIM SERPINA3 MUC1 EWSR1
38 neurilemmoma 30.1 VIM SERPINA3 MUC1
39 dedifferentiated liposarcoma 30.0 SERPINA3 MUC1 EWSR1
40 reticulum cell sarcoma 30.0 VIM MUC1
41 myoepithelial carcinoma 29.9 VIM NR4A3 MUC1 EWSR1
42 osteochondrodysplasia 29.9 SOX9 MMP13 EXT2 EXT1
43 bone inflammation disease 29.9 SERPINA3 MMP13 MMP1
44 lung sarcoma 29.9 TAF15 SERPINA3 EWSR1
45 ossifying fibromyxoid tumor 29.9 VIM MUC1
46 myxofibrosarcoma 29.9 SERPINA3 MUC1 MTAP EWSR1
47 well-differentiated liposarcoma 29.8 SERPINA3 MUC1 EWSR1
48 epulis 29.8 VIM SERPINA3
49 periodontitis 29.7 SERPINA3 MMP13 MMP1
50 aortic aneurysm, familial abdominal, 1 29.7 SERPINA3 MMP13 MMP1

Graphical network of the top 20 diseases related to Chondrosarcoma:



Diseases related to Chondrosarcoma

Symptoms & Phenotypes for Chondrosarcoma

Human phenotypes related to Chondrosarcoma:

31
# Description HPO Frequency HPO Source Accession
1 chondrosarcoma 31 HP:0006765

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
chondrosarcoma

Clinical features from OMIM®:

215300 (Updated 20-May-2021)

Drugs & Therapeutics for Chondrosarcoma

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

(show top 50) (show all 145)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ifosfamide Approved Phase 3 3778-73-2 3690
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
3
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
6
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
7
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
8
Cyproheptadine Approved Phase 3 129-03-3 2913
9 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
10 Alkylating Agents Phase 3
11
Isophosphamide mustard Phase 3 100427
12 Liver Extracts Phase 3
13 Narcotics Phase 3
14 Anesthetics Phase 3
15 Anesthetics, Intravenous Phase 3
16 Anesthetics, General Phase 3
17 Analgesics, Opioid Phase 3
18
Liposomal doxorubicin Phase 2, Phase 3 31703
19 Antibiotics, Antitubercular Phase 2, Phase 3
20 Anti-Bacterial Agents Phase 2, Phase 3
21 Gastrointestinal Agents Phase 3
22 Neurotransmitter Agents Phase 3
23 Anti-Allergic Agents Phase 3
24 Histamine Antagonists Phase 3
25 Dermatologic Agents Phase 3
26
Histamine Phosphate Phase 3 51-74-1 65513
27 Histamine H1 Antagonists Phase 3
28
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
29
Ipilimumab Approved Phase 2 477202-00-9
30
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
31
Lenograstim Approved, Investigational Phase 2 135968-09-1
32
Epirubicin Approved Phase 2 56420-45-2 41867
33
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
34
Etoposide Approved Phase 2 33419-42-0 36462
35
Dactinomycin Approved, Investigational Phase 2 50-76-0 2019 457193
36
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
37
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 446556 60843
38
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
39
Amifostine Approved, Investigational Phase 2 20537-88-6 2141
40
Pancrelipase Approved, Investigational Phase 2 53608-75-6
41
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
42
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
43
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
44
Loperamide Approved Phase 2 53179-11-6 3955
45
Allopurinol Approved Phase 2 315-30-0 2094
46
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
47
chloroquine Approved, Investigational, Vet_approved Phase 1, Phase 2 54-05-7 2719
48
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
49
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
50
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316

Interventional clinical trials:

(show top 50) (show all 85)
# 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 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Unknown status NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
4 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
5 Randomised Trial of Proton vs. Carbon Ion Radiation Therapy in Patients With Low and Inter-mediate Grade Chondrosarcoma of the Skull Base, Clinical Phase III Study Recruiting NCT01182753 Phase 3
6 Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754) Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
7 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
8 GEIS-27: Phase I/II Multicenter and Prospective Trial of Nilotinib and Adriamycin as Neoadjuvant Treatment in Liposarcomas and Leiomyosarcomas of Retroperitoneum Unknown status NCT02587169 Phase 1, Phase 2 Nilotinib-adriamycin
9 Open-label Trial of Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Unknown status NCT00928525 Phase 2 Imatinib Mesylate
10 A Phase II Single Arm Study Assessing Efficacy & Safety of Nivolumab Plus Ipilimumab in Nonresectable/Metastatic Sarcoma and Endometrial Carcinoma Patients With Somatic Deficient MMR as a Selection Tool Unknown status NCT02982486 Phase 2 Ipilimumab;Nivolumab
11 A Phase II Surgical Trial Of Intralesional Resection Of Low-Grade Intracompartmental Chondrosarcoma Of Bone Completed NCT00096213 Phase 2
12 A Phase I/II, Open-Label, Dose-Escalation Study of CDX-1401 in Patients With Malignancies Known to Express NY-ESO-1 Completed NCT00948961 Phase 1, Phase 2
13 Phase I/II Trial of Torisel and Liposomal Doxorubicin in Patients With Advanced Soft Tissue and Bone Sarcomas Completed NCT00949325 Phase 1, Phase 2 temsirolimus plus liposomal doxorubicin
14 A Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study of AG-221 in Subjects With Advanced Solid Tumors, Including Glioma, and With Angioimmunoblastic T-cell Lymphoma, That Harbor an IDH2 Mutation Completed NCT02273739 Phase 1, Phase 2 Enasidenib
15 Phase II Study Of Sequential Gemcitabine Followed By Docetaxel For Recurrent Ewing's Sarcoma, Osteosarcoma, Or Unresectable Or Locally Recurrent Chondrosarcoma [SARC Study] Completed NCT00073983 Phase 2 docetaxel;gemcitabine hydrochloride
16 MMT 98 Study For Metastatic Disease Rhabdomyosarcoma And Other Malignant Soft Tissue Sarcoma Of Childhood Completed NCT00025441 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
17 A Phase II Trial of Radiosurgery for 1 to 3 Newly Diagnosed Brain Metastases From Renal Cell, Melanoma and Sarcoma Completed NCT00003308 Phase 2
18 Phase II Trial of Pemetrexed for Advanced Chondrosarcomas Completed NCT00107419 Phase 2 pemetrexed disodium
19 High Dose Ifosfamide, Carboplatin and Etoposide With Amifostine Chemoprotection Completed NCT00003657 Phase 2 Amifostine;Carboplatin;Etoposide;Ifosfamide
20 A Phase II, Open-Label, Non-Randomized, Multicenter, Single Agent Study of Intravenous SDX-102 for the Treatment of Patients With MTAP-Deficient Cancer Completed NCT00062283 Phase 2 L-alanosine
21 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
22 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
23 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
24 A Phase 2, Double-Blind, Placebo-Controlled Study Evaluating the Safety and Efficacy of IPI-926 in Patients With Metastatic or Locally Advanced (Unresectable) Chondrosarcoma Completed NCT01310816 Phase 2 IPI-926;Placebo Arm
25 A Phase II Study of Pazopanib in the Treatment of Surgically Unresectable or Metastatic Chondrosarcoma Completed NCT01330966 Phase 2 pazopanib
26 Sarcoma Alliance for Research Through Collaboration (SARC) Multicenter Trial: A Phase II Trial of Perifosine in Patients With Chemo-Insensitive Sarcomas Completed NCT00401388 Phase 2 Perifosine
27 Phase Ib Study of Metformin and Chloroquine in IDH1/2-mutated Patients With Glioma, Intrahepatic Cholangiocarcinoma or Chondrosarcoma Completed NCT02496741 Phase 1, Phase 2 Metformin and chloroquine combination
28 Randomized Study of Charged Particle RT for Chordomas and Chondrosarcomas of the Base of Skull or Cervical Spine Completed NCT00592748 Phase 1, Phase 2
29 A Randomized, Double-Blind Phase II, Study of Gemcitabine Alone or in Combination With Pazopanib for Refractory Soft Tissue Sarcoma Completed NCT01532687 Phase 2 Gemcitabine;Gemcitabine Hydrochloride;Pazopanib;Pazopanib Hydrochloride
30 Pilot Differentiation of Bone Sarcomas and Osteomyelitis With Ferumoxytol-Enhanced MRI Completed NCT01336803 Phase 2 Feraheme
31 A Phase 2 Study of Linsitinib (OSI-906) in Pediatric and Adult Wild Type Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
32 A Phase II Clinical Trial of Angiotensin 1-7 For the Second or Third Line Treatment of Patients With Metastatic or Unresectable Sarcomas Completed NCT01553539 Phase 2 therapeutic angiotensin-(1-7)
33 A Phase 1B/II Study of GDC-0449 (NSC 747691) in Combination With RO4929097, a Gamma-Secretase Inhibitor (GSI) in Advanced/Metastatic Sarcomas Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
34 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
35 A Phase II Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
36 A Phase 2, Single Arm, Multi Center Trial Evaluating the Efficacy of the COmbination of Sirolimus and cYclophosphamide in Metastatic or Unresectable Myxoid Liposarcoma and chOndrosarcoma Recruiting NCT02821507 Phase 2 sirolimus and cyclophosphamide
37 SARC024: A Blanket Protocol to Study Oral Regorafenib in Patients With Selected Sarcoma Subtypes Recruiting NCT02048371 Phase 2 Regorafenib;Placebo
38 Phase II Study of AG-120 in IDH1 Mutant Chondrosarcoma Recruiting NCT04278781 Phase 2 AG-120
39 A Phase 2 Study of Anti-PD-L1 Antibody (Atezolizumab) in Chondrosarcoma and Clear Cell Sarcoma Recruiting NCT04458922 Phase 2 Atezolizumab
40 Abemaciclib for Treatment of Advanced Bone and Soft Tissue Sarcoma Identified as Having CDK Pathway Alteration Recruiting NCT04040205 Phase 2 Abemaciclib
41 Clinical Study to Assess Efficacy and Safety of LN-145/LN-145-S1 (Autologous Centrally Manufactured Tumor Infiltrating Lymphocytes) Across Multiple Tumor Types Recruiting NCT03449108 Phase 2 Autologous Tumor Infiltrating Lymphocytes LN-145-S1;Cyclophosphamide;Fludarabine
42 A Randomized Phase II, Placebo-controlled, Multicenter Study Evaluating Efficacy and Safety of Regorafenib in Patients With Metastatic Bone Sarcomas Recruiting NCT02389244 Phase 2 Regorafenib;Placebo
43 Phase I Study of TQB3525, Phosphatidylinositol-3-Kinase α and δ Inhibitors, in Patients With Advanced Bone Sarcomas Active, not recruiting NCT04690725 Phase 1, Phase 2 TQB3525
44 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
45 A Phase 2 Study of GDC-0449 in Patients With Advanced Chondrosarcomas Active, not recruiting NCT01267955 Phase 2 Vismodegib
46 Phase II Evaluation of Proton Beam Therapy for Skull Base Chondrosarcoma Active, not recruiting NCT00496522 Phase 2
47 A Phase II Open-Label Trial of Pazopanib Administered as a Single Agent in Patients With Unresectable or Metastatic Solitary Fibrous Tumor (SFT) and Extraskeletal Myxoid Chondrosarcoma (EMC) Active, not recruiting NCT02066285 Phase 2 Pazopanib
48 A Phase 1b/2 Study of FT 2102 in Participants With Advanced Solid Tumors and Gliomas With an IDH1 Mutation Active, not recruiting NCT03684811 Phase 1, Phase 2 FT-2102;Azacitidine;Gemcitabine and Cisplatin
49 Phase II Study on Trabectedin in Advanced Rearranged Mesenchymal Chondrosarcoma Not yet recruiting NCT04305548 Phase 2 Trabectedin
50 A Randomized Prospective, Multicentric, Open Label, Phase II Study Aiming to Evaluate the Efficacity and Safety of EVEROLIMUS as Neo-adjuvant Therapy in Patients With Primary or Relapsed Chondrosarcomas Suspended NCT02008019 Phase 2 Everolimus 2.5 mg/day;Everolimus 10 mg/day

Search NIH Clinical Center for Chondrosarcoma

Cochrane evidence based reviews: chondrosarcoma

Genetic Tests for Chondrosarcoma

Genetic tests related to Chondrosarcoma:

# Genetic test Affiliating Genes
1 Chondrosarcoma 29 EXT1

Anatomical Context for Chondrosarcoma

MalaCards organs/tissues related to Chondrosarcoma:

40
Bone, Breast, Lung, Thyroid, Brain, Heart, Pituitary

Publications for Chondrosarcoma

Articles related to Chondrosarcoma:

(show top 50) (show all 7257)
# Title Authors PMID Year
1
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 61 57 6 54
8981950 1997
2
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. 57 61
23770606 2013
3
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. 61 57
7726168 1995
4
Chondrosarcoma in three brothers. A pathological and genetic study. 61 57
6015756 1967
5
Thrombin enhanced migration and MMPs expression of human chondrosarcoma cells involves PAR receptor signaling pathway. 54 61
20175118 2010
6
Primary intradural chordoma: report on three cases and review of the literature. 61 54
20423692 2010
7
Carcinosarcoma in the pouch of douglas. 61 54
19484471 2010
8
Epigenetics: methylation-associated repression of heparan sulfate 3-O-sulfotransferase gene expression contributes to the invasive phenotype of H-EMC-SS chondrosarcoma cells. 61 54
19812376 2010
9
Correlation between MMP-13 and HDAC7 expression in human knee osteoarthritis. 54 61
19784544 2010
10
Rho kinase-dependent activation of SOX9 in chondrocytes. 54 61
20039424 2010
11
Involvement of matrix metalloproteinase-3 in CCL5/CCR5 pathway of chondrosarcomas metastasis. 61 54
19682436 2010
12
CXCR4/SDF1 mediate hypoxia induced chondrosarcoma cell invasion through ERK signaling and increased MMP1 expression. 61 54
20102637 2010
13
Altered synthesis of cartilage-specific proteoglycans by mutant human cartilage oligomeric matrix protein. 54 61
19956474 2009
14
In vitro suppression of the MMP-3 gene in normal and cytokine-treated human chondrosarcoma using small interfering RNA. 61 54
20034400 2009
15
Dedifferentiated peripheral chondrosarcomas: regulation of EXT-downstream molecules and differentiation-related genes. 54 61
19734846 2009
16
Osteopontin increases migration and MMP-9 up-regulation via alphavbeta3 integrin, FAK, ERK, and NF-kappaB-dependent pathway in human chondrosarcoma cells. 61 54
19475568 2009
17
Central chondrosarcoma progression is associated with pRb pathway alterations: CDK4 down-regulation and p16 overexpression inhibit cell growth in vitro. 61 54
18624751 2009
18
Characterization and regulation of ADAMTS-16. 61 54
19635554 2009
19
Rho iso-alpha acids from hops inhibit the GSK-3/NF-kappaB pathway and reduce inflammatory markers associated with bone and cartilage degradation. 54 61
19712471 2009
20
HDAC4 represses vascular endothelial growth factor expression in chondrosarcoma by modulating RUNX2 activity. 61 54
19509297 2009
21
Glial cell-derived neurotrophic factor increases migration of human chondrosarcoma cells via ERK and NF-kappaB pathways. 61 54
19399830 2009
22
Kinome profiling of chondrosarcoma reveals SRC-pathway activity and dasatinib as option for treatment. 61 54
19602594 2009
23
Markers aiding the diagnosis of chondroid tumors: an immunohistochemical study including osteonectin, bcl-2, cox-2, actin, calponin, D2-40 (podoplanin), mdm-2, CD117 (c-kit), and YKL-40. 61 54
19594492 2009
24
CTGF enhances migration and MMP-13 up-regulation via alphavbeta3 integrin, FAK, ERK, and NF-kappaB-dependent pathway in human chondrosarcoma cells. 61 54
19301259 2009
25
Distinguishing chordoid meningiomas from their histologic mimics: an immunohistochemical evaluation. 61 54
19194275 2009
26
Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors. 61 54
19336518 2009
27
Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. 54 61
19179614 2009
28
Immunohistochemical comparison of chordoma with chondrosarcoma, myxopapillary ependymoma, and chordoid meningioma. 54 61
19521276 2009
29
Bone morphogenetic protein-2 enhances the motility of chondrosarcoma cells via activation of matrix metalloproteinase-13. 54 61
19038372 2009
30
Cyr61 increases migration and MMP-13 expression via alphavbeta3 integrin, FAK, ERK and AP-1-dependent pathway in human chondrosarcoma cells. 54 61
19126648 2009
31
BMP-2 increases migration of human chondrosarcoma cells via PI3K/Akt pathway. 54 61
18720410 2008
32
Brachyury, SOX-9, and podoplanin, new markers in the skull base chordoma vs chondrosarcoma differential: a tissue microarray-based comparative analysis. 54 61
18820665 2008
33
Differential transactivation by orphan nuclear receptor NOR1 and its fusion gene product EWS/NOR1: possible involvement of poly(ADP-ribose) polymerase I, PARP-1. 61 54
18680143 2008
34
Chondroprotective effects of glucosamine involving the p38 MAPK and Akt signaling pathways. 61 54
18340449 2008
35
SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. 54 61
18580682 2008
36
Cartilage oligomeric matrix protein induction of chronic arthritis in mice. 61 54
18576344 2008
37
The hTAF II 68-TEC fusion protein functions as a strong transcriptional activator. 61 54
18330902 2008
38
Is collagenase-3 (MMP-13) expression in chondrosarcoma of the jaws a true marker for tumor aggressiveness? 61 54
18554405 2008
39
A novel tumor necrosis factor alpha-responsive CCAAT/enhancer binding protein site regulates expression of the cartilage-derived retinoic acid-sensitive protein gene in cartilage. 54 61
18438857 2008
40
Suberoylanilide hydroxamic acid (SAHA) induces apoptosis or autophagy-associated cell death in chondrosarcoma cell lines. 61 54
18630516 2008
41
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. 54 61
17570134 2008
42
Retinoid X receptor and peroxisome proliferator-activated receptor-gamma agonists cooperate to inhibit matrix metalloproteinase gene expression. 54 61
19046432 2008
43
The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. 61 54
18162764 2008
44
Hyaluronan inhibits IL-1beta-stimulated collagenase production via down-regulation of phosphorylated p38 in SW-1353 human chondrosarcoma cells. 54 61
18427719 2008
45
alpha-MSH inhibits TNF-alpha-induced matrix metalloproteinase-13 expression by modulating p38 kinase and nuclear factor kappaB signaling in human chondrosarcoma HTB-94 cells. 54 61
17683952 2008
46
Characterization of the human ADAMTS-5 (aggrecanase-2) gene promoter. 61 54
17211519 2007
47
Activin A suppresses interleukin-1-induced matrix metalloproteinase 3 secretion in human chondrosarcoma cells. 54 61
17436000 2007
48
Establishment of novel human dedifferentiated chondrosarcoma cell line with osteoblastic differentiation. 54 61
17653762 2007
49
Update on chondrosarcomas. 54 61
17545802 2007
50
Regulation of oncogenic transcription factor hTAF(II)68-TEC activity by human glyceraldehyde-3-phosphate dehydrogenase (GAPDH). 54 61
17302560 2007

Variations for Chondrosarcoma

ClinVar genetic disease variations for Chondrosarcoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT1 EXT1, 1-BP INS, 2077C Insertion Pathogenic 2496 GRCh37:
GRCh38:
2 EXT1 NM_000127.2(EXT1):c.528_535del (p.Lys177fs) Deletion Pathogenic 2497 rs587776540 GRCh37: 8:119122751-119122758
GRCh38: 8:118110512-118110519
3 EXT1 NM_000127.3(EXT1):c.2077del (p.Ala693fs) Deletion Pathogenic 931284 GRCh37: 8:118812115-118812115
GRCh38: 8:117799876-117799876
4 EXT1 NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter) SNV Pathogenic 932048 GRCh37: 8:118830755-118830755
GRCh38: 8:117818516-117818516
5 EXT1 NM_000127.3(EXT1):c.873C>G (p.Asp291Glu) SNV Uncertain significance 998182 GRCh37: 8:119122413-119122413
GRCh38: 8:118110174-118110174
6 EXT1 NM_000127.3(EXT1):c.564G>T (p.Arg188Ser) SNV Uncertain significance 931007 GRCh37: 8:119122722-119122722
GRCh38: 8:118110483-118110483

UniProtKB/Swiss-Prot genetic disease variations for Chondrosarcoma:

72
# Symbol AA change Variation ID SNP ID
1 EXT1 p.Asn316Ser VAR_012820

Cosmic variations for Chondrosarcoma:

9 (show all 34)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87344289 PALB2 bone,pelvis,chondrosarcoma,conventional c.2177C>T p.P726L 16:23629977-23629977 15
2 COSM136160604 PALB2 bone,pelvis,chondrosarcoma,conventional c.1292C>T p.P431L 16:23629977-23629977 15
3 COSM103033796 IDH1 bone,femur,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 15
4 COSM112752272 IDH1 bone,tibia,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 15
5 COSM103034038 IDH1 bone,femur,chondrosarcoma,NS c.394C>G p.R132G 2:208248389-208248389 15
6 COSM90465396 IDH1 bone,humerus,chondrosarcoma,conventional c.394C>T p.R132C 2:208248389-208248389 15
7 COSM112752610 IDH1 bone,pelvis,chondrosarcoma,conventional c.394C>G p.R132G 2:208248389-208248389 15
8 COSM90465733 IDH1 bone,femur,chondrosarcoma,NS c.394C>G p.R132G 2:208248389-208248389 15
9 COSM112752230 IDH1 bone,pelvis,chondrosarcoma,conventional c.395G>A p.R132H 2:208248388-208248388 15
10 COSM112752921 IDH1 bone,femur,chondrosarcoma,NS c.394C>A p.R132S 2:208248389-208248389 15
11 COSM103034000 IDH1 bone,pelvis,chondrosarcoma,conventional c.395G>T p.R132L 2:208248388-208248388 15
12 COSM103034325 IDH1 bone,humerus,chondrosarcoma,conventional c.394C>A p.R132S 2:208248389-208248389 15
13 COSM112752563 IDH1 bone,femur,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 15
14 COSM90465675 IDH1 bone,femur,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 15
15 COSM103033757 IDH1 bone,femur,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 15
16 COSM90465359 IDH1 bone,femur,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 15
17 COSM90466087 IDH1 bone,humerus,chondrosarcoma,conventional c.394C>A p.R132S 2:208248389-208248389 15
18 COSM105722763 HRAS bone,femur,chondrosarcoma,NS c.35G>C p.G12A 11:534288-534288 15
19 COSM91332456 HRAS bone,femur,chondrosarcoma,NS c.35G>C p.G12A 11:534288-534288 15
20 COSM112989371 HRAS bone,femur,chondrosarcoma,NS c.34G>A p.G12S 11:534289-534289 15
21 COSM91331691 HRAS bone,femur,chondrosarcoma,NS c.34G>A p.G12S 11:534289-534289 15
22 COSM101967772 HRAS bone,femur,chondrosarcoma,NS c.34G>A p.G12S 11:534289-534289 15
23 COSM112989984 HRAS bone,femur,chondrosarcoma,NS c.35G>C p.G12A 11:534288-534288 15
24 COSM105721953 HRAS bone,femur,chondrosarcoma,NS c.34G>A p.G12S 11:534289-534289 15
25 COSM101968626 HRAS bone,femur,chondrosarcoma,NS c.35G>C p.G12A 11:534288-534288 15
26 COSM101952924 HRAS bone,femur,chondrosarcoma,NS c.35G>C p.G12A 11:534288-534288 15
27 COSM101952183 HRAS bone,femur,chondrosarcoma,NS c.34G>A p.G12S 11:534289-534289 15
28 COSM90071231 CENPA bone,pelvis,chondrosarcoma,conventional c.199T>C p.F67L 2:26792229-26792229 15
29 COSM85537090 CENPA bone,pelvis,chondrosarcoma,conventional c.199T>C p.F67L 2:26792229-26792229 15
30 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
31 COSM95520543 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
32 COSM95523461 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
33 COSM95526780 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
34 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3

Copy number variations for Chondrosarcoma from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 110025 17 31160600 31198351 Translate TAF15 Chondrosarcoma

Expression for Chondrosarcoma

Search GEO for disease gene expression data for Chondrosarcoma.

Pathways for Chondrosarcoma

Pathways related to Chondrosarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 VIM MUC1 MMP1
2
Show member pathways
9.74 IDH2 IDH1

GO Terms for Chondrosarcoma

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.7 SOX9 EXT2 EXT1
2 cartilage development GO:0051216 9.58 SOX9 MMP13 CNMD
3 epithelial tube branching involved in lung morphogenesis GO:0060441 9.57 SOX9 EXT1
4 sulfation GO:0051923 9.56 EXT2 EXT1
5 sodium ion homeostasis GO:0055078 9.55 EXT2 EXT1
6 2-oxoglutarate metabolic process GO:0006103 9.54 IDH2 IDH1
7 heart contraction GO:0060047 9.51 EXT2 EXT1
8 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.49 EXT2 EXT1
9 heparin biosynthetic process GO:0030210 9.48 EXT2 EXT1
10 multicellular organismal water homeostasis GO:0050891 9.46 EXT2 EXT1
11 NADP metabolic process GO:0006739 9.43 IDH2 IDH1
12 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.37 EXT2 EXT1
13 isocitrate metabolic process GO:0006102 9.32 IDH2 IDH1
14 fluid transport GO:0042044 9.26 EXT2 EXT1
15 cellular polysaccharide biosynthetic process GO:0033692 9.16 EXT2 EXT1
16 glyoxylate cycle GO:0006097 8.96 IDH2 IDH1
17 endochondral bone morphogenesis GO:0060350 8.8 SOX9 EXT2 EXT1

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

# Name GO ID Score Top Affiliating Genes
1 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.32 EXT2 EXT1
2 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.26 EXT2 EXT1
3 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.16 EXT2 EXT1
4 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.96 IDH2 IDH1
5 isocitrate dehydrogenase activity GO:0004448 8.62 IDH2 IDH1

Sources for Chondrosarcoma

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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