CHDSA
MCID: CHN012
MIFTS: 57

Chondrosarcoma (CHDSA)

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

Aliases & Classifications for Chondrosarcoma

MalaCards integrated aliases for Chondrosarcoma:

Name: Chondrosarcoma 57 12 75 53 59 74 29 13 55 6 44 15 40 17 72
Cartilaginous Cancer 12 53
Primary Chondrosarcoma of the Bone 12
Chondrosarcoma of Bone 12
Chdsa 74

Characteristics:

Orphanet epidemiological data:

59
chondrosarcoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: adult,elderly;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
chondrosarcoma:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:3371
OMIM 57 215300
MeSH 44 D002813
NCIt 50 C2946 C7155
SNOMED-CT 68 14990007
MESH via Orphanet 45 D002813
ICD10 via Orphanet 34 C49.9
UMLS via Orphanet 73 C0008479
Orphanet 59 ORPHA55880
MedGen 42 C0008479
UMLS 72 C0008479 C1335473

Summaries for Chondrosarcoma

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 55880DefinitionChondrosarcoma 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.Visit the Orphanet disease page for more resources.

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 Endochondral Ossification and Immune response_Oncostatin M signaling via JAK-Stat in human cells. The drugs Ifosfamide and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and breast, and related phenotypes are abnormality of the skeletal system and chondrosarcoma

Disease Ontology : 12 A connective tissue cancer that has material basis in cells derived from transformed cells that produce cartilage.

UniProtKB/Swiss-Prot : 74 Chondrosarcoma: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.

Wikipedia : 75 Chondrosarcoma is a cancer composed of cells derived from transformed cells that produce cartilage.... 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 476)
# Related Disease Score Top Affiliating Genes
1 chondrosarcoma, extraskeletal myxoid 34.7 TFG TAF15 NR4A3 EWSR1
2 extraosseous chondrosarcoma 34.7 TFG TAF15 EWSR1
3 bone chondrosarcoma 34.5 MMP13 MMP1
4 intracranial chondrosarcoma 34.4 IDH2 IDH1
5 myxoid chondrosarcoma 34.4 TAF15 NR4A3 MTAP EWSR1
6 clear cell chondrosarcoma 34.2 PTHLH EXT2
7 mesenchymal chondrosarcoma 34.0 SOX9 NCOA2
8 periosteal chondrosarcoma 33.5 PTHLH NCOA2 IDH2 IDH1 EXT1
9 hereditary multiple osteochondromas 33.2 EXT2 EXT1
10 multiple enchondromatosis, maffucci type 33.0 IDH2 IDH1 EXT2 EXT1
11 enchondromatosis, multiple, ollier type 32.3 PTHLH IDH2 IDH1 EXT2 EXT1
12 enchondroma 32.2 IDH2 IDH1
13 osteochondroma 31.5 PTHLH EXT2 EXT1
14 chondroblastic osteosarcoma 31.4 IDH2 IDH1
15 hereditary multiple exostoses 31.1 EXT2 EXT1
16 juxtacortical chondroma 30.7 PTHLH EXT1 EWSR1
17 fibrous histiocytoma 30.5 SERPINA3 MTAP EWSR1
18 histiocytoma 30.5 SERPINA3 MTAP EWSR1
19 bone inflammation disease 30.3 SOX9 MMP13 MMP1
20 bone disease 30.0 PTHLH MMP13 EXT2 EXT1
21 adult mesenchymal chondrosarcoma 12.4
22 adult myxoid chondrosarcoma 12.4
23 extraskeletal mesenchymal chondrosarcoma 12.4
24 juxtacortical chondrosarcoma 12.3
25 localized chondrosarcoma 12.3
26 pediatric mesenchymal chondrosarcoma 12.2
27 pediatric myxoid chondrosarcoma 12.2
28 adult extraosseous chondrosarcoma 12.1
29 exostoses, multiple, type i 11.5
30 bone cancer 11.5
31 exostoses, multiple, type ii 11.5
32 chondroid chordoma 11.5
33 cartilage cancer 11.5
34 bizzare parosteal osteochondromatous proliferation 11.2
35 chondroma 10.9
36 osteogenic sarcoma 10.8
37 dysplasia epiphysealis hemimelica 10.7 EXT2 EXT1
38 rare tumor 10.7
39 chordoma 10.7
40 interval angle-closure glaucoma 10.7 IDH2 IDH1
41 adult oligodendroglioma 10.6 IDH2 IDH1
42 cytogenetically normal acute myeloid leukemia 10.6 IDH2 IDH1
43 pediatric fibrosarcoma 10.6 TFG EWSR1
44 intraductal papilloma 10.5 IDH2 IDH1
45 soft tissue sarcoma 10.5
46 spindle cell hemangioma 10.5 IDH2 IDH1
47 undifferentiated pleomorphic sarcoma 10.5
48 fibrosarcoma 10.5
49 spindle cell sarcoma 10.5
50 synovial chondromatosis 10.5

Graphical network of the top 20 diseases related to Chondrosarcoma:



Diseases related to Chondrosarcoma

Symptoms & Phenotypes for Chondrosarcoma

Human phenotypes related to Chondrosarcoma:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 32 HP:0000924
2 chondrosarcoma 32 HP:0006765

Symptoms via clinical synopsis from OMIM:

57
Skel:
chondrosarcoma

Clinical features from OMIM:

215300

Drugs & Therapeutics for Chondrosarcoma

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

(show top 50) (show all 168)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
2
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
3
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
5
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
6
Trabectedin Approved, Investigational Phase 2, Phase 3 114899-77-3 108150
7
Histamine Approved, Investigational Phase 3 51-45-6 774
8
Cyproheptadine Approved Phase 3 129-03-3 2913
9 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
10 Analgesics Phase 3
11 Peripheral Nervous System Agents Phase 3
12
Isophosphamide mustard Phase 2, Phase 3 0
13 Liver Extracts Phase 3
14 Cola Phase 3
15 Anesthetics, Intravenous Phase 3
16 Narcotics Phase 3
17 Analgesics, Opioid Phase 3
18 Adjuvants, Anesthesia Phase 3
19 Central Nervous System Depressants Phase 3
20 Anesthetics, General Phase 3
21 Anesthetics Phase 3
22 Alkylating Agents Phase 2, Phase 3
23 Antibiotics, Antitubercular Phase 2, Phase 3
24 Antineoplastic Agents, Alkylating Phase 2, Phase 3
25 Neurotransmitter Agents Phase 3
26
Liposomal doxorubicin Phase 2, Phase 3 31703
27 Topoisomerase Inhibitors Phase 2, Phase 3
28 Gastrointestinal Agents Phase 3
29 Anti-Allergic Agents Phase 3
30 Serotonin Antagonists Phase 3
31 Histamine H1 Antagonists Phase 3
32 Histamine Antagonists Phase 3
33 Dermatologic Agents Phase 3
34 Serotonin Agents Phase 3
35
Histamine Phosphate Phase 3 51-74-1 65513
36 Antipruritics Phase 3
37
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
38
Metformin Approved Phase 1, Phase 2 657-24-9 4091 14219
39
chloroquine Approved, Investigational, Vet_approved Phase 1, Phase 2 54-05-7 2719
40
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
41
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
42
Lenograstim Approved, Investigational Phase 2 135968-09-1
43
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556
44
leucovorin Approved Phase 2 58-05-9 143 6006
45
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
46
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
47
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
48
Mecasermin Approved, Investigational Phase 2 68562-41-4
49
Pancrelipase Approved, Investigational Phase 2 53608-75-6
50
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198

Interventional clinical trials:

(show top 50) (show all 91)
# 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 Randomised Trial of Post-Operative Radiotherapy Given to Adult Patients With Extremity Soft Tissue Sarcoma [VORTEX] Completed NCT00423618 Phase 3
4 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) Completed NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
5 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
6 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
7 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
8 TRUSTS: A Phase IIB/III Multicenter Study Comparing the Efficacy of TRabectedin Administered as a 3-Hour or 24-Hour Infusion to Doxorubicin in Patients With Advanced or Metastatic Untreated Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3 doxorubicin hydrochloride;trabectedin
9 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
10 Phase Ib Study of Metformin and Chloroquine in IDH1/2-mutated Patients With Glioma, Intrahepatic Cholangiocarcinoma or Chondrosarcoma Unknown status NCT02496741 Phase 1, Phase 2 Metformin and chloroquine combination
11 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
12 Non-randomized Single-center Study Phase II Evaluating the Efficacy and Toxicity of Autologous Dendritic Cell Vaccine Loaded With Allogeneic Tumor Lysate Expression of Cancer Testis Antigens in Patients With Soft Tissue Sarcoma Unknown status NCT01883518 Phase 1, Phase 2
13 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) Unknown status NCT02066285 Phase 2 Pazopanib
14 Phase II Evaluation of Temodal (Temozolomide, Schering) in Previously Treated Advanced Sarcomas Unknown status NCT00003718 Phase 2 temozolomide
15 A Phase II Surgical Trial Of Intralesional Resection Of Low-Grade Intracompartmental Chondrosarcoma Of Bone Completed NCT00096213 Phase 2
16 A Phase II Study of Pazopanib in the Treatment of Surgically Unresectable or Metastatic Chondrosarcoma Completed NCT01330966 Phase 2 pazopanib
17 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
18 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
19 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 AG-221
20 Phase II Trial of Pemetrexed for Advanced Chondrosarcomas Completed NCT00107419 Phase 2 pemetrexed disodium
21 A Phase II Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
22 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
23 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
24 Randomized Study of Charged Particle RT for Chordomas and Chondrosarcomas of the Base of Skull or Cervical Spine Completed NCT00592748 Phase 1, Phase 2
25 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
26 A Phase II Trial of R1507, a Recombinant Human Monoclonal Antibody to the Insulin-Like Growth Factor-1 Receptor for the Treatment of Participants With Recurrent or Refractory Ewing's Sarcoma, Osteosarcoma, Synovial Sarcoma, Rhabdomyosarcoma and Other Sarcomas. Completed NCT00642941 Phase 2 RG1507
27 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
28 A Phase II Trial of Radiosurgery for 1 to 3 Newly Diagnosed Brain Metastases From Renal Cell, Melanoma and Sarcoma Completed NCT00003308 Phase 2
29 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)
30 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
31 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
32 A Phase 2 Study of Linsitinib (OSI-906) in Pediatric and Adult Wild Type Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
33 Pilot Differentiation of Bone Sarcomas and Osteomyelitis With Ferumoxytol-Enhanced MRI Completed NCT01336803 Phase 2 Feraheme
34 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
35 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
36 A Phase II Trial of Image Guided Preoperative Radiotherapy for Primary Soft Tissue Sarcomas of the Extremity Completed NCT00589121 Phase 2 Chemotherapy
37 Efficacy and Safety Assessment of Oral LBH589 in Adult Patients With Advanced Soft Tissue Sarcoma After Pre-treatment Failure: an Open-label, Multicenter Phase II Study Completed NCT01136499 Phase 2 LBH589 (Panobinostat®)
38 High Dose Ifosfamide, Carboplatin and Etoposide With Amifostine Chemoprotection Completed NCT00003657 Phase 2 Amifostine;Carboplatin;Etoposide;Ifosfamide
39 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
40 A Phase 1b/2 Study of FT 2102 in Participants With Advanced Solid Tumors and Gliomas With an IDH1 Mutation Recruiting NCT03684811 Phase 1, Phase 2 FT-2102;Azacitidine;Gemcitabine and Cisplatin
41 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
42 A Phase 1b Single Center Investigation of Safety/Efficacy of Nivolumab (Opdivo®) and ABI-009 (Nab-rapamycin) in Patients With Advanced Undifferentiated Pleomorphic Sarcoma, Liposarcoma, Chondrosarcoma, Osteosarcoma and Ewing Sarcoma Recruiting NCT03190174 Phase 1, Phase 2 Nab-Rapamycin
43 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
44 Clinical Study to Assess Efficacy and Safety of LN-145 (Autologous Centrally Manufactured Tumor Infiltrating Lymphocytes) Across Multiple Tumor Types Recruiting NCT03449108 Phase 2 Cyclophosphamide;Fludarabine;Fludarabine Phosphate
45 Phase I/II Trial of Pre-Operative Image Guided Intensity Modulated Proton Radiation Therapy (IMPT) or Photon (IMRT) With Simultaneously Integrated Boost to the High Risk Margin for Retroperitoneal Sarcomas Recruiting NCT01659203 Phase 1, Phase 2
46 Open-label Trial of Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2 Imatinib Mesylate
47 A Phase 2 Study of GDC-0449 in Patients With Advanced Chondrosarcomas Active, not recruiting NCT01267955 Phase 2 Vismodegib
48 Phase II Evaluation of Proton Beam Therapy for Skull Base Chondrosarcoma Active, not recruiting NCT00496522 Phase 2
49 A Randomized, Double-Blind Phase II, Study of Gemcitabine Alone or in Combination With Pazopanib for Refractory Soft Tissue Sarcoma Active, not recruiting NCT01532687 Phase 2 Gemcitabine Hydrochloride;Pazopanib Hydrochloride
50 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2

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:

41
Bone, Lung, Breast, Thyroid, Brain, Heart, Endothelial

Publications for Chondrosarcoma

Articles related to Chondrosarcoma:

(show top 50) (show all 6743)
# Title Authors PMID Year
1
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 9 38 71
8981950 1997
2
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. 38 8
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. 38 8
7726168 1995
4
Chondrosarcoma in three brothers. A pathological and genetic study. 38 8
6015756 1967
5
Thrombin enhanced migration and MMPs expression of human chondrosarcoma cells involves PAR receptor signaling pathway. 9 38
20175118 2010
6
Primary intradural chordoma: report on three cases and review of the literature. 9 38
20423692 2010
7
Epigenetics: methylation-associated repression of heparan sulfate 3-O-sulfotransferase gene expression contributes to the invasive phenotype of H-EMC-SS chondrosarcoma cells. 9 38
19812376 2010
8
Carcinosarcoma in the pouch of douglas. 9 38
19484471 2010
9
Correlation between MMP-13 and HDAC7 expression in human knee osteoarthritis. 9 38
19784544 2010
10
Involvement of matrix metalloproteinase-3 in CCL5/CCR5 pathway of chondrosarcomas metastasis. 9 38
19682436 2010
11
Rho kinase-dependent activation of SOX9 in chondrocytes. 9 38
20039424 2010
12
CXCR4/SDF1 mediate hypoxia induced chondrosarcoma cell invasion through ERK signaling and increased MMP1 expression. 9 38
20102637 2010
13
Altered synthesis of cartilage-specific proteoglycans by mutant human cartilage oligomeric matrix protein. 9 38
19956474 2009
14
In vitro suppression of the MMP-3 gene in normal and cytokine-treated human chondrosarcoma using small interfering RNA. 9 38
20034400 2009
15
Dedifferentiated peripheral chondrosarcomas: regulation of EXT-downstream molecules and differentiation-related genes. 9 38
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. 9 38
19475568 2009
17
Characterization and regulation of ADAMTS-16. 9 38
19635554 2009
18
Central chondrosarcoma progression is associated with pRb pathway alterations: CDK4 down-regulation and p16 overexpression inhibit cell growth in vitro. 9 38
18624751 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. 9 38
19712471 2009
20
HDAC4 represses vascular endothelial growth factor expression in chondrosarcoma by modulating RUNX2 activity. 9 38
19509297 2009
21
Kinome profiling of chondrosarcoma reveals SRC-pathway activity and dasatinib as option for treatment. 9 38
19602594 2009
22
Glial cell-derived neurotrophic factor increases migration of human chondrosarcoma cells via ERK and NF-kappaB pathways. 9 38
19399830 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. 9 38
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. 9 38
19301259 2009
25
Distinguishing chordoid meningiomas from their histologic mimics: an immunohistochemical evaluation. 9 38
19194275 2009
26
Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors. 9 38
19336518 2009
27
Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. 9 38
19179614 2009
28
Immunohistochemical comparison of chordoma with chondrosarcoma, myxopapillary ependymoma, and chordoid meningioma. 9 38
19521276 2009
29
Cyr61 increases migration and MMP-13 expression via alphavbeta3 integrin, FAK, ERK and AP-1-dependent pathway in human chondrosarcoma cells. 9 38
19126648 2009
30
Bone morphogenetic protein-2 enhances the motility of chondrosarcoma cells via activation of matrix metalloproteinase-13. 9 38
19038372 2009
31
Brachyury, SOX-9, and podoplanin, new markers in the skull base chordoma vs chondrosarcoma differential: a tissue microarray-based comparative analysis. 9 38
18820665 2008
32
BMP-2 increases migration of human chondrosarcoma cells via PI3K/Akt pathway. 9 38
18720410 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. 9 38
18680143 2008
34
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. 9 38
18580682 2008
35
Chondroprotective effects of glucosamine involving the p38 MAPK and Akt signaling pathways. 9 38
18340449 2008
36
Cartilage oligomeric matrix protein induction of chronic arthritis in mice. 9 38
18576344 2008
37
The hTAF II 68-TEC fusion protein functions as a strong transcriptional activator. 9 38
18330902 2008
38
Is collagenase-3 (MMP-13) expression in chondrosarcoma of the jaws a true marker for tumor aggressiveness? 9 38
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. 9 38
18438857 2008
40
Suberoylanilide hydroxamic acid (SAHA) induces apoptosis or autophagy-associated cell death in chondrosarcoma cell lines. 9 38
18630516 2008
41
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. 9 38
17570134 2008
42
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. 9 38
17683952 2008
43
The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. 9 38
18162764 2008
44
Retinoid X receptor and peroxisome proliferator-activated receptor-gamma agonists cooperate to inhibit matrix metalloproteinase gene expression. 9 38
19046432 2008
45
Hyaluronan inhibits IL-1beta-stimulated collagenase production via down-regulation of phosphorylated p38 in SW-1353 human chondrosarcoma cells. 9 38
18427719 2008
46
Characterization of the human ADAMTS-5 (aggrecanase-2) gene promoter. 9 38
17211519 2007
47
Establishment of novel human dedifferentiated chondrosarcoma cell line with osteoblastic differentiation. 9 38
17653762 2007
48
Activin A suppresses interleukin-1-induced matrix metalloproteinase 3 secretion in human chondrosarcoma cells. 9 38
17436000 2007
49
Update on chondrosarcomas. 9 38
17545802 2007
50
Regulation of oncogenic transcription factor hTAF(II)68-TEC activity by human glyceraldehyde-3-phosphate dehydrogenase (GAPDH). 9 38
17302560 2007

Variations for Chondrosarcoma

ClinVar genetic disease variations for Chondrosarcoma:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EXT1 NM_000127.2(EXT1): c.528_535del (p.Lys177fs) deletion Pathogenic rs587776540 8:119122751-119122758 8:118110512-118110519

UniProtKB/Swiss-Prot genetic disease variations for Chondrosarcoma:

74
# Symbol AA change Variation ID SNP ID
1 EXT1 p.Asn316Ser VAR_012820

Cosmic variations for Chondrosarcoma:

9 (show all 12)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6940728 PALB2 bone,pelvis,chondrosarcoma,dedifferentiated c.2177C>T p.P726L 16:23629977-23629977 12
2 COSM28747 IDH1 bone,pelvis,chondrosarcoma,dedifferentiated c.394C>T p.R132C 2:208248389-208248389 12
3 COSM28748 IDH1 bone,humerus,chondrosarcoma,conventional c.394C>A p.R132S 2:208248389-208248389 12
4 COSM28750 IDH1 bone,femur,chondrosarcoma,conventional c.395G>T p.R132L 2:208248388-208248388 12
5 COSM28749 IDH1 bone,femur,chondrosarcoma,conventional c.394C>G p.R132G 2:208248389-208248389 12
6 COSM28746 IDH1 bone,femur,chondrosarcoma,conventional c.395G>A p.R132H 2:208248388-208248388 12
7 COSM480 HRAS bone,femur,chondrosarcoma,conventional c.34G>A p.G12S 11:534289-534289 12
8 COSM485 HRAS bone,femur,chondrosarcoma,conventional c.35G>C p.G12A 11:534288-534288 12
9 COSM6942013 CENPA bone,pelvis,chondrosarcoma,dedifferentiated c.199T>C p.F67L 2:26792229-26792229 12
10 COSM1732355 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
11 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
12 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 3

Copy number variations for Chondrosarcoma from CNVD:

7
# CNVD ID Chromosom 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 10.61 SOX9 PTHLH MMP13
2 10.43 SERPINA3 MMP1
3
Show member pathways
10.07 IDH2 IDH1

GO Terms for Chondrosarcoma

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.61 SOX9 EXT2 EXT1
2 cartilage development GO:0051216 9.58 SOX9 MMP13 CNMD
3 2-oxoglutarate metabolic process GO:0006103 9.49 IDH2 IDH1
4 negative regulation of chondrocyte differentiation GO:0032331 9.48 SOX9 PTHLH
5 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.46 EXT2 EXT1
6 skeletal system development GO:0001501 9.46 SOX9 PTHLH EXT1 CNMD
7 NADP metabolic process GO:0006739 9.37 IDH2 IDH1
8 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.32 EXT2 EXT1
9 isocitrate metabolic process GO:0006102 9.26 IDH2 IDH1
10 glyoxylate cycle GO:0006097 8.96 IDH2 IDH1
11 cellular polysaccharide biosynthetic process GO:0033692 8.62 EXT2 EXT1

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

# Name GO ID Score Top Affiliating Genes
1 acetylglucosaminyltransferase activity GO:0008375 9.37 EXT2 EXT1
2 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.32 EXT2 EXT1
3 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.26 EXT2 EXT1
4 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.16 EXT2 EXT1
5 isocitrate dehydrogenase activity GO:0004448 8.96 IDH2 IDH1
6 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.62 IDH2 IDH1

Sources for Chondrosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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