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OSRC
MCID: OST159
MIFTS: 66

Osteogenic Sarcoma (OSRC)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Osteogenic Sarcoma

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MalaCards integrated aliases for Osteogenic Sarcoma:

Name: Osteogenic Sarcoma 56 12 74 52 58 73 15
Osteosarcoma 56 12 52 58 73 36 29 13 54 6 43 15 39 17 71
Neoplasms, Bone Tissue 43 71
Osrc 56 73
Osteosarcoma, Somatic 56
Bone Tissue Neoplasm 12
Osteosarcoma of Bone 71
Osteosarcoma; Osrc 56
Skeletal Sarcoma 12
Osteoid Sarcoma 12
Bone Sarcoma 71

Characteristics:

Orphanet epidemiological data:

58
osteosarcoma
Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

56
Inheritance:
somatic mutation

Miscellaneous:
increased incidence of osteosarcoma in retinoblastoma cases with rb1 mutations
peak frequency in adolescence


HPO:

31
osteogenic sarcoma:
Inheritance autosomal recessive inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:3347
OMIM 56 259500
KEGG 36 H00036
NCIt 49 C9145
SNOMED-CT 67 21708004
MESH via Orphanet 44 D012516
ICD10 via Orphanet 33 C41.9
UMLS via Orphanet 72 C0029463
Orphanet 58 ORPHA668
MedGen 41 C0029463
UMLS 71 C0029463 C0206639 C0585442 more
Sources

Summaries for Osteogenic Sarcoma

About this section
NIH Rare Diseases : 52 Osteosarcoma is the most common type of bone cancer . The average age at diagnosis is 15. Boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. In rare cases, osteosarcoma occurs in adults. Although osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone. A number of variants of osteosarcoma exist, including conventional types (osteoblastic, chondroblastic, and fibroblastic), telangiectatic, multifocal, parosteal, and periosteal. The cause of osteosarcoma is not known. In some cases, it runs in families, and at least one gene has been linked to increased risk. Treatment varies from person to person and may include surgery, chemotherapy , radiation therapy , and samarium.

MalaCards based summary : Osteogenic Sarcoma, also known as osteosarcoma, is related to lung cancer and leiomyosarcoma. An important gene associated with Osteogenic Sarcoma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are BRCA1 Pathway and Pathways Affected in Adenoid Cystic Carcinoma. The drugs Lithium carbonate and Heparin have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and breast, and related phenotypes are osteolysis and abnormality of the femoral metaphysis

Disease Ontology : 12 A bone sarcoma that is located in bone that has material basis in cells of mesenchymal origin.

KEGG : 36 Osteosarcoma is the most common type of primary bone cancer. Approximately 900 new cases of osteosarcoma are diagnosed each year in the United States. The presentation of this disease is bimodal, with peaks in adolescence and after the age of 50 years. The tumors typically arise in the metaphyseal regions of long bones, with the distal femur, proximal tibia, and proximal humerus representing the three most common sites. Genomic amplification, especially of both the p53-binding MDM2 gene and the flanking SAS gene, plays an important role in the biology of these tumors. Alterations of Rb1 and c-myc are also common, and mutations have been reported in p53, p16INK4A, and CDKN2B.

UniProtKB/Swiss-Prot : 73 Osteogenic sarcoma: A sarcoma originating in bone-forming cells, affecting the ends of long bones.

Wikipedia : 74 An osteosarcoma (OS) or osteogenic sarcoma (OGS) (or simply bone cancer) is a cancerous tumor in a bone.... more...

More information from OMIM: 259500
Sources

Related Diseases for Osteogenic Sarcoma

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

(show top 50) (show all 865)
# Related Disease Score Top Affiliating Genes
1 lung cancer 31.9 XIST UCA1 TUSC7 TUG1 TP53 SNHG12
2 leiomyosarcoma 31.6 TP53 RB1 ATRX
3 leukemia, acute myeloid 31.4 UCA1 TUSC7 TUG1 TP53 MIR140 HOTAIR
4 familial retinoblastoma 31.3 TP53 RB1
5 li-fraumeni syndrome 31.2 TP53 RB1 CHEK2 ATRX
6 squamous cell carcinoma 31.1 ZEB1-AS1 UCA1 TUSC7 TUG1 TP53 RB1
7 glioma 31.1 ZEB1-AS1 UCA1 TP53 MIR140 HOTTIP HOTAIR
8 retinitis pigmentosa 11 31.0 XIST UCA1 TP53 HOTAIR
9 renal cell carcinoma, nonpapillary 31.0 UCA1 TUG1 TP53 MIR140 HOTAIR DANCR
10 endometrial cancer 31.0 UCA1 TUSC7 TUG1 TP53 SNHG12 RB1
11 cervical cancer 31.0 UCA1 TUG1 TP53 SNHG12 RB1 MIR140
12 suppressor of tumorigenicity 3 30.9 TP53 RB1
13 esophageal cancer 30.9 XIST UCA1 TP53 SOX4 RB1 MIR140
14 oral squamous cell carcinoma 30.9 UCA1 TUG1 TP53 MIR140 HOTAIR
15 myeloma, multiple 30.8 UCA1 TUG1 TP53 MIR140 HOTAIR
16 astrocytoma 30.8 ZEB1-AS1 UCA1 TUSC7 HOTAIR DANCR
17 bladder cancer 30.8 ZEB1-AS1 XIST UCA1 TUG1 TP53 RB1
18 bladder urothelial carcinoma 30.7 UCA1 TUG1 TP53 RB1 HOTAIR
19 hepatocellular carcinoma 30.7 ZEB1-AS1 XIST UCA1 TUSC7 TUG1 TP53
20 gliosarcoma 30.7 TP53 RB1 ATRX
21 colorectal cancer 30.6 ZEB1-AS1 XIST UCA1 TUSC7 TUG1 TP53
22 small cell cancer of the lung 30.5 TUG1 TP53 RB1 HOTTIP HOTAIR
23 atypical teratoid rhabdoid tumor 30.5 TP53 HOTAIR ATRX
24 pancreatic ductal adenocarcinoma 30.5 UCA1 TUSC7 TP53 HOTTIP HOTAIR
25 malignant glioma 30.5 XIST TUSC7 TUG1 TP53 HOTTIP HOTAIR
26 li-fraumeni syndrome 1 30.4 TP53 CHEK2
27 gastric cancer 30.3 ZEB1-AS1 XIST UCA1 TUSC7 TUG1 TP53
28 kidney osteogenic sarcoma 12.6
29 multifocal osteogenic sarcoma 12.5
30 telangiectatic osteogenic sarcoma 12.5
31 periosteal osteogenic sarcoma 12.5
32 small cell osteogenic sarcoma 12.5
33 synchronous multifocal osteogenic sarcoma 12.5
34 intracortical osteogenic sarcoma 12.5
35 hepatic osteogenic sarcoma 12.4
36 adult extraosseous osteosarcoma 12.4
37 bone osteosarcoma 12.4
38 conventional central osteosarcoma 12.4
39 peripheral osteosarcoma 12.4
40 childhood parosteal osteogenic sarcoma 12.3
41 mediastinal osteogenic sarcoma 12.3
42 asynchronous multifocal osteogenic sarcoma 12.3
43 childhood extraosseous osteosarcoma 12.3
44 osteosarcoma arising in bone paget's disease 12.2
45 oslam syndrome 12.2
46 childhood intracortical osteosarcoma 12.2
47 metachronous osteosarcoma of the bone 12.1
48 central nervous system osteosarcoma 12.1
49 localized osteosarcoma 11.8
50 rapadilino syndrome 11.8

Graphical network of the top 20 diseases related to Osteogenic Sarcoma:



Diseases related to Osteogenic Sarcoma
Sources

Symptoms & Phenotypes for Osteogenic Sarcoma

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Human phenotypes related to Osteogenic Sarcoma:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
2 abnormality of the femoral metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006489
3 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
4 abnormality of the tibial metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0006491
5 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
6 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
7 increased lactate dehydrogenase level 31 frequent (33%) HP:0025435
8 fever 58 31 very rare (1%) Very rare (<4-1%) HP:0001945
9 weight loss 58 31 very rare (1%) Very rare (<4-1%) HP:0001824
10 pathologic fracture 58 31 very rare (1%) Very rare (<4-1%) HP:0002756
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 abnormality of the metaphysis 58 Frequent (79-30%)
13 retinoblastoma 31 HP:0009919
14 osteosarcoma 31 HP:0002669
15 increased lactate dehydrogenase activity 58 Frequent (79-30%)
16 abnormal lactate dehydrogenase activity 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
osteogenic sarcoma

Skeletal:
bone destruction and mineralized soft tissue mass

Head And Neck Eyes:
retinoblastoma (in some patients)

Skeletal Limbs:
painful tender mass at long bone metaphysis

Clinical features from OMIM:

259500
Sources

Drugs & Therapeutics for Osteogenic Sarcoma

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

(show top 50) (show all 322)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Phase 4 554-13-2
2
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
3
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
4
Dalteparin Approved Phase 4 9005-49-6
5
Enoxaparin Approved Phase 4 9005-49-6 772
6
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
7 Psychotropic Drugs Phase 4
8 Antidepressive Agents Phase 4
9 Analgesics, Non-Narcotic Phase 4
10 Analgesics Phase 4
11 Antirheumatic Agents Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Anti-Inflammatory Agents, Non-Steroidal Phase 4
14 Fibrinolytic Agents Phase 4
15 Anticoagulants Phase 4
16 Heparin, Low-Molecular-Weight Phase 4
17 calcium heparin Phase 4
18 Cyclooxygenase Inhibitors Phase 4
19 Antipyretics Phase 4
20 Platelet Aggregation Inhibitors Phase 4
21
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
22
Sorafenib Approved, Investigational Phase 2, Phase 3 284461-73-0 216239 406563
23
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
24
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
25
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
26
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
27
Mifamurtide Approved, Experimental Phase 2, Phase 3 838853-48-8
28
Zoledronic Acid Approved Phase 3 118072-93-8 68740
29 Grape Approved Phase 3
30 Cranberry Approved, Investigational Phase 3
31
Cefazolin Approved Phase 3 25953-19-9 656510 33255
32
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
33
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
34
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
35
Trabectedin Approved, Investigational Phase 2, Phase 3 114899-77-3 108150
36
Histamine Approved, Investigational Phase 3 51-45-6 774
37
Cyproheptadine Approved Phase 3 129-03-3 2913
38
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
39
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
40
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
41
Vatalanib Investigational Phase 2, Phase 3 212141-54-3 151194
42 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
43
Camptothecin Experimental Phase 3 7689-03-4
44 Interferon-alpha Phase 3
45 Interferon alpha-2 Phase 3
46 Diphosphonates Phase 2, Phase 3
47 Podophyllotoxin Phase 3 518-28-5
48 Keratolytic Agents Phase 3
49 Ergocalciferols Phase 3
50 Vitamin D2 Phase 3

Interventional clinical trials:

(show top 50) (show all 420)
# Name Status NCT ID Phase Drugs
1 The Efficacy of New Adjuvant Chemotherapy of Osteosarcoma Combined With Zoledronic Acid in Decrease the Lung Metastatic Rate of Osteosarcoma Recruiting NCT03932071 Phase 4 Zoledronic Acid
2 A Prospected Randomized Multicenter Clinical Trial of Lithium Carbonate Combined With Neo-adjuvant Chemotherapy to Treat Osteosarcoma Recruiting NCT01669369 Phase 4 Lithium Carbonate;Placebo
3 Low Molecular Weight Heparin Versus Aspirin for Venous Thromboembolism Prophylaxis in Orthopaedic Oncology Enrolling by invitation NCT03244020 Phase 4 Aspirin 325mg;Enoxaparin 40Mg/0.4mL Prefilled Syringe
4 A Clinical Trial on Efficacy and Safety for Lobaplatin and Gemcitabine in Combination With Docetaxel in the Second-line Treatments on Advanced Osteosarcoma Unknown status NCT02099396 Phase 2, Phase 3 Docetaxel+lobaplatin;Gemcitabine+lobaplatin
5 Evaluation of Zoledronic Acid as a Single Agent and as an Adjuvant to Chemotherapy in the Management of High Grade Osteosarcoma Unknown status NCT00691236 Phase 2, Phase 3 Zoledronic acid;Standard chemotherapy
6 A Randomized Trial of the European and American Osteosarcoma Study Group to Optimize Treatment Strategies for Resectable Osteosarcoma Based on Histological Response to Pre-operative Chemotherapy Unknown status NCT00134030 Phase 3 Cisplatin;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Methotrexate
7 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Unknown status NCT01987596 Phase 3
8 Growth Hormone Therapy and Bone Quality in Pediatric Osteoporosis Unknown status NCT00757393 Phase 3 Vitamin D + Calcium + Exercise program + Humatrope
9 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
10 Osteosarcoma Study #2: A Randomized Trial of Pre-Surgical Chemotherapy vs. Immediate Surgery and Adjuvant Chemotherapy in the Treatment of Non-Metastatic Osteosarcoma. A Pediatric Oncology Group Phase III Study Completed NCT00001217 Phase 3 pre-surgical chemotherapy
11 SFOP-OS94: Multicentric Randomised Phase III Trial Comparing Efficacy of Preoperative High-Dose Methotrexate Plus Doxorubicin to Efficacy of High-Dose Methotrexate Plus Etoposide and Ifosfamide, in Children and Adolescents Osteosarcoma Completed NCT00180908 Phase 3 Etoposide, Ifosfamide, Methotrexate;Doxorubicin, Methotrexate
12 Assessing the Safety, Feasibility, Cost Effectiveness and Patient Satisfaction of Outpatient Administration of High Dose Methotrexate (HD MTX) in Patients With Osteosarcoma Completed NCT01176981 Phase 3 High Dose Methotrexate
13 A RANDOMISED TRIAL OF CHEMOTHERAPY WITH OR WITHOUT GRANULOCYTE COLONY-STIMULATING FACTOR IN OPERABLE OSTEOSARCOMA Completed NCT00002539 Phase 3 cisplatin;doxorubicin hydrochloride
14 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
15 A Phase II Trial of Apatinib in Relapsed and Unresectable High-grade Osteosarcoma After Failure of Standard Multimodal Therapy Completed NCT02711007 Phase 2, Phase 3 apatinib
16 A Pivotal Trial to Determine the Efficacy and Safety of AP23573 When Administered as Maintenance Therapy to Patients With Metastatic Soft-Tissue or Bone Sarcomas Completed NCT00538239 Phase 3 ridaforolimus;Placebo
17 Protocol for Patients With Newly-Diagnosed Non-Metastatic Osteosarcoma - A POG/CCG Pilot Intergroup Study Completed NCT00003937 Phase 3 cisplatin;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;ifosfamide;methotrexate
18 Randomized Study Comparing Neoadjuvant Chemotherapy Etoposide + Ifosfamide + Adriamycin (EIA) Combined With Regional Hyperthermia (RHT) Versus Neoadjuvant Chemotherapy Alone in the Treatment of High-Risk Soft Tissue Sarcomas in Adults Completed NCT00003052 Phase 3 doxorubicin hydrochloride;etoposide;ifosfamide
19 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
20 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
21 ABCB1/P-glycoprotein Expression as Biologic Stratification Factor for Patients With Non Metastatic Osteosarcoma - Prospective Study (ISG/OS-2) Active, not recruiting NCT01459484 Phase 2, Phase 3 Mifamurtide arm
22 A Multi-Center Phase III, Randomized, Open-Label Trial of Vigil (Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Immunotherapy) in Combination With Irinotecan and Temozolomide as a Second-Line Regimen for Ewing's Sarcoma Active, not recruiting NCT03495921 Phase 3 Irinotecan;Temozolomide
23 OS2006 : Protocole de Traitement Des ostéosarcomes de l'Enfant, de l'Adolescent et de l'Adulte Comportant Active, not recruiting NCT00470223 Phase 3 cisplatin;doxorubicin hydrochloride;etoposide;ifosfamide;methotrexate;zoledronic acid
24 Prophylactic Antibiotic Regimens in Tumor Surgery (PARITY): A Multi-Center International Randomized Controlled Trial Comparing Alternative Antibiotic Regimens in Patients Undergoing Tumor Resections With Endoprosthetic Replacements Active, not recruiting NCT01479283 Phase 3 24-Hour Prophylactic Cefazolin* Antibiotic Regimen;5-Days Prophylactic Cefazolin* Antibiotic Regimen
25 Assessment of the Effect of a Co-treatment With GnRH Analogs on the Ovarian Reserve in Adolescents and Young Women Treated With Alkylating Agents for Cancer Active, not recruiting NCT02856048 Phase 2, Phase 3 Triptorelin (GnRHa) + Chemotherapy
26 Randomized Controlled Trial to Assess Blockade of Voltage Gated Sodium Channels During Surgery in Operable Breast Cancer Active, not recruiting NCT01916317 Phase 3 0.5% lignocaine 60mM
27 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
28 A Randomized, Double-blind, Placebo-controlled, Multicenter，Phase III Clinical Study of Recombinant Anti-PD-L1 Monoclonal Antibody (ZKAB001) for Maintenance Therapy in Patients With High-grade Osteosarcoma After Adjuvant Chemotherapy Not yet recruiting NCT04359550 Phase 3
29 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
30 Comparative Evaluation of MRI and MDCT for the Detection of Metastic Pulmonary Nodules Terminated NCT00751920 Phase 3
31 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
32 Phase II Study of Low-Dose Interferon Alfa 2B (Schering Plough) Plus Thalidomide (Celgene) for Patients With Resected High-Risk Soft Tissue Sarcoma Unknown status NCT00026416 Phase 2 thalidomide
33 Phase II Study of Everolimus in Children and Adolescents With Refractory or Relapsed Osteosarcoma Unknown status NCT01216826 Phase 2 Everolimus
34 A Randomized, Controlled Multicenter Trial of Endostar Combined With Chemotherapy for Treatment of Osteosarcoma Unknown status NCT01002092 Phase 2 Chemotherapy;Endostar
35 Apatinib Second Line Treatment for Advanced Osteosarcoma and Soft Tissue Sarcomas ,Openting ,Single Center, One-armed Clinical Study. Unknown status NCT03163381 Phase 2 Apatinib
36 Prospective Clinical Trial Evaluating Metronomic Chemotherapy in Patients With High-grade, Operable, Non-metastatic Osteosarcoma of the Extremity Unknown status NCT02273583 Phase 2 continuous oral cyclophosphamide and methotrexate
37 Evaluation of Curcumin Formulation, and Ashwagandha Root Powder Extract in the Management of Advanced High Grade Osteosarcoma" Unknown status NCT00689195 Phase 1, Phase 2
38 Phaseâ…¡ Study of Weekly Docetaxel and Fixed-Dose Rate Gemcitabine in Patient With Previously Treated Advanced Soft Tissue and Bone Sarcoma Prospective, Open Label, Multi-Institutional Unknown status NCT00807261 Phase 2 Gemcitabine and Docetaxel
39 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
40 A Phase II Trial of Radiotherapy Concurrent With Apatinib in Advanced Soft Tissue and Bone Sarcomas of Head and Neck: the RASS Study Unknown status NCT03539172 Phase 2 Apatinib Mesylate
41 Phase II Trial of Trimetrexate and Leucovorin in The Treatment of Recurrent Childhood Acute Lymphoblastic Leukemia Completed NCT00002738 Phase 2 leucovorin calcium;trimetrexate glucuronate
42 A Multi-Institutional, Open-Label, Two-Group, Phase II Study of PS-341 (LDP-341, NSC #681239) in Patients With Advanced or Metastatic Sarcoma Completed NCT00027716 Phase 2 bortezomib
43 A Phase II Window Study of Trimetrexate With Simultaneous Leucovorin Protection in the Treatment of Newly Diagnosed Patients With Metastatic Osteosarcoma Completed NCT00003776 Phase 2 cisplatin;doxorubicin hydrochloride;ifosfamide;leucovorin calcium;methotrexate;trimetrexate glucuronate
44 Phase II Trial of Gleevec (Formerly Known as STI571) in Patients With Soft Tissue and Bone Sarcomas: A Multi-Disciplinary Trial of the North American Sarcoma Study Group of the Connective Tissue Oncology Society Completed NCT00031915 Phase 2 imatinib mesylate
45 High Dose Samarium-153 With Peripheral Blood Stem Cell Support in High Risk Osteogenic Sarcoma Completed NCT00245011 Phase 2 ifosfamide
46 A Phase 2 Study of Temsirolimus (CCI-779, NSC 683864) and IGF-1 Receptor Antibody Cixutumumab (IMC-A12, NSC 742460) in Patients With Metastatic Sarcomas Completed NCT01016015 Phase 2 Temsirolimus
47 Phase II Study of Chemotherapy and Pamidronate for the Treatment of Newly Diagnosed Osteosarcoma Completed NCT00586846 Phase 2 Cisplatin;Doxorubicin;Methotrexate
48 Phase Ib/IIa Study of SLIT Cisplatin by Inhalation in the Treatment of Patients Wtih Relapsed/Progressive Osteosarcoma Metastatic to the Lung Completed NCT00102531 Phase 1, Phase 2 Cisplatin liposomal
49 Phase II, Open Label, Non-randomized Study of Second or Third Line Treatment With Sorafenib (BAY 43-9006) in Patients Affected by Relapsed High-grade Osteosarcoma. Completed NCT00889057 Phase 2 sorafenib
50 Multicenter and Prospective Phase II Trial With Gemcitabine and Rapamycin in Second Line of Metastatic Osteosarcoma Completed NCT02429973 Phase 2 Gemcitabine plus rapamycin

Search NIH Clinical Center for Osteogenic Sarcoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Carboplatin
Cisplatin
CISPLATIN PWDR
Methotrexate
Methotrexate Sodium

Cochrane evidence based reviews: osteosarcoma

Sources

Genetic Tests for Osteogenic Sarcoma

About this section

Genetic tests related to Osteogenic Sarcoma:

# Genetic test Affiliating Genes
1 Osteosarcoma 29 CHEK2 RB1 TP53
Sources

Anatomical Context for Osteogenic Sarcoma

About this section

The Foundational Model of Anatomy Ontology organs/tissues related to Osteogenic Sarcoma:

19
Bone

MalaCards organs/tissues related to Osteogenic Sarcoma:

40
Bone, Lung, Breast, T Cells, Endothelial, Brain, Testes
Sources

Publications for Osteogenic Sarcoma

About this section

Articles related to Osteogenic Sarcoma:

(show top 50) (show all 24532)
# Title Authors PMID Year
1
Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling. 54 61 56
19286668 2009
2
The membrane-cytoskeleton linker ezrin is necessary for osteosarcoma metastasis. 54 56 61
14704791 2004
3
Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. 61 54 6
11746983 2002
4
Osteosarcoma following retinoblastoma: age at onset and latency period. 54 56 61
11449317 2001
5
Mechanism of chemoresistance mediated by miR-140 in human osteosarcoma and colon cancer cells. 54 61 46
19734943 2009
6
Investigations on a clinically and functionally unusual and novel germline p53 mutation. 6 61
12085209 2002
7
Metastasis-associated differences in gene expression in a murine model of osteosarcoma. 56 61
11325848 2001
8
An orthotopic model of murine osteosarcoma with clonally related variants differing in pulmonary metastatic potential. 56 61
11315100 2000
9
Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone. 56 61
9718349 1998
10
Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma. 61 56
2036639 1991
11
Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. 61 56
3004203 1986
12
Osteosarcoma: fifteen years later. 56 61
3906399 1985
13
Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition. 61 56
2994066 1985
14
Familial osteosarcoma associated with 13;14 chromosomal rearrangement. 56 61
3857964 1985
15
Osteogenic sarcoma in siblings. 61 56
288942 1979
16
An incident of familial cancer, including 3 cases of osteogenic sarcoma. 61 56
4315294 1970
17
Osteogenic sarcoma in four siblings. 61 56
5222601 1966
18
Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). 6
8401536 1993
19
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 6
1565143 1992
20
Proteasome inhibition with bortezomib suppresses growth and induces apoptosis in osteosarcoma. 61 54
19894220 2010
21
R1507, a fully human monoclonal antibody targeting IGF-1R, is effective alone and in combination with rapamycin in inhibiting growth of osteosarcoma xenografts. 61 54
20486173 2010
22
Ionizing radiation enhances tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced apoptosis through up-regulations of death receptor 4 (DR4) and death receptor 5 (DR5) in human osteosarcoma cells. 54 61
20041491 2010
23
Inhibition of ABCB1 (MDR1) expression by an siRNA nanoparticulate delivery system to overcome drug resistance in osteosarcoma. 61 54
20520719 2010
24
Expression analysis of genes associated with human osteosarcoma tumors shows correlation of RUNX2 overexpression with poor response to chemotherapy. 54 61
20465837 2010
25
Retinoid-suppressed phosphorylation of RARalpha mediates the differentiation pathway of osteosarcoma cells. 54 61
20190807 2010
26
Oleanane triterpenoid CDDO-Me induces apoptosis in multidrug resistant osteosarcoma cells through inhibition of Stat3 pathway. 54 61
20459702 2010
27
The expression and significance of IDH1 and p53 in osteosarcoma. 54 61
20459648 2010
28
Immunohistochemical identification of the PTHR1 parathyroid hormone receptor in normal and neoplastic human tissues. 61 54
20156969 2010
29
Glycation of PDGF results in decreased biological activity. 54 61
20083221 2010
30
Evaluation of short-term effects of rare earth and other elements used in magnesium alloys on primary cells and cell lines. 61 54
19800429 2010
31
RANK-Fc inhibits malignancy via inhibiting ERK activation and evoking caspase-3-mediated anoikis in human osteosarcoma cells. 61 54
20383567 2010
32
2-methoxyestradiol-mediated anti-tumor effect increases osteoprotegerin expression in osteosarcoma cells. 54 61
20082321 2010
33
APEX1 gene amplification and its protein overexpression in osteosarcoma: correlation with recurrence, metastasis, and survival. 54 61
20218738 2010
34
Expression of Smad and its signalling cascade in osteosarcoma. 61 54
20350217 2010
35
Preclinical evidence that use of TRAIL in Ewing's sarcoma and osteosarcoma therapy inhibits tumor growth, prevents osteolysis, and increases animal survival. 61 54
20371692 2010
36
RUNX2 regulates the effects of TNFalpha on proliferation and apoptosis in SaOs-2 cells. 54 61
20053387 2010
37
Synergistic antitumor effect of the activated PPARgamma and retinoid receptors on human osteosarcoma. 54 61
20371684 2010
38
The role of VE-cadherin in osteosarcoma cells. 61 54
19760520 2010
39
p73 is essential for vitamin D-mediated osteoblastic differentiation. 54 61
19779497 2010
40
CK beta 8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory responses. 54 61
19951712 2010
41
Expression profile and synthesis of different collagen types I, II, III, and V of human gingival fibroblasts, osteoblasts, and SaOS-2 cells after bisphosphonate treatment. 54 61
19597852 2010
42
Polyoma virus-induced osteosarcomas in inbred strains of mice: host determinants of metastasis. 54 61
20107604 2010
43
Smoothened as a new therapeutic target for human osteosarcoma. 61 54
20067614 2010
44
PEDF regulates osteoclasts via osteoprotegerin and RANKL. 54 61
19945427 2010
45
Impaired cell cycle regulation of the osteoblast-related heterodimeric transcription factor Runx2-Cbfbeta in osteosarcoma cells. 61 54
19739101 2009
46
The novel HSP90 inhibitor STA-1474 exhibits biologic activity against osteosarcoma cell lines. 54 61
19544563 2009
47
Up-regulation of osteolytic mediators in human osteosarcoma cells stimulated with nicotine. 61 54
19602125 2009
48
Sorafenib blocks tumour growth, angiogenesis and metastatic potential in preclinical models of osteosarcoma through a mechanism potentially involving the inhibition of ERK1/2, MCL-1 and ezrin pathways. 54 61
20003259 2009
49
Runx2, p53, and pRB status as diagnostic parameters for deregulation of osteoblast growth and differentiation in a new pre-chemotherapeutic osteosarcoma cell line (OS1). 61 54
19746444 2009
50
Matrix association of latent TGF-beta binding protein-2 (LTBP-2) is dependent on fibrillin-1. 61 54
19681046 2009
Sources

Variations for Osteogenic Sarcoma

About this section

ClinVar genetic disease variations for Osteogenic Sarcoma:

6 (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHEK2 NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)SNV Pathogenic 439092 rs200917541 22:29121258-29121258 22:28725270-28725270
2 CHEK2 NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser)SNV Pathogenic 5595 rs137853008 22:29130661-29130661 22:28734673-28734673
3 TP53 NM_001126112.2(TP53):c.475_481dup (p.Ala161fs)duplication Pathogenic 12380 rs863223301 17:7578448-7578449 17:7675130-7675131
4 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His)SNV Pathogenic 12366 rs28934576 17:7577120-7577120 17:7673802-7673802
5 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His)SNV Pathogenic 12374 rs28934578 17:7578406-7578406 17:7675088-7675088
6 RB1 NM_000321.2(RB1):c.1981C>T (p.Arg661Trp)SNV Pathogenic 13087 rs137853294 13:49033844-49033844 13:48459708-48459708
7 ATRX NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter)SNV Pathogenic 11728 rs122445099 X:76776310-76776310 X:77520832-77520832
8 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln)SNV Pathogenic 12356 rs11540652 17:7577538-7577538 17:7674220-7674220
9 RB1 NM_000321.2(RB1):c.1215+1G>ASNV Pathogenic 126832 rs587776783 13:48947629-48947629 13:48373493-48373493
10 CHEK2 NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)SNV Pathogenic 141381 rs587781705 22:29130494-29130494 22:28734506-28734506
11 CHEK2 NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)SNV Pathogenic 182452 rs730881701 22:29121266-29121266 22:28725278-28725278
12 TP53 NM_001126112.2(TP53):c.799C>T (p.Arg267Trp)SNV Pathogenic/Likely pathogenic 141764 rs55832599 17:7577139-7577139 17:7673821-7673821
13 CHEK2 NM_007194.4(CHEK2):c.444+1G>ASNV Pathogenic/Likely pathogenic 128075 rs121908698 22:29121230-29121230 22:28725242-28725242
14 TP53 NM_001126112.2(TP53):c.96+1G>TSNV Pathogenic/Likely pathogenic 482212 rs1131691003 17:7579699-7579699 17:7676381-7676381
15 CHEK2 NM_007194.4(CHEK2):c.444+2T>CSNV Pathogenic/Likely pathogenic 422638 rs560596101 22:29121229-29121229 22:28725241-28725241
16 TP53 NM_001126112.2(TP53):c.559+1G>ASNV Pathogenic/Likely pathogenic 428908 rs1131691042 17:7578370-7578370 17:7675052-7675052
17 TSC2 NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)deletion Likely pathogenic 438794 rs1555508929 16:2126513-2126514 16:2076512-2076513
18 TP53 NM_001126112.2(TP53):c.722C>T (p.Ser241Phe)SNV Likely pathogenic 12359 rs28934573 17:7577559-7577559 17:7674241-7674241
19 CHEK2 NM_007194.4(CHEK2):c.319+2T>ASNV Likely pathogenic 142352 rs587782401 22:29130389-29130389 22:28734401-28734401
20 CHEK2 NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)SNV Conflicting interpretations of pathogenicity 142479 rs587782489 22:29085155-29085155 22:28689167-28689167
21 CHEK2 NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)SNV Conflicting interpretations of pathogenicity 141856 rs17882942 22:29085131-29085131 22:28689143-28689143
22 CHEK2 NM_007194.4(CHEK2):c.556A>C (p.Asn186His)SNV Conflicting interpretations of pathogenicity 141977 rs146198085 22:29121001-29121001 22:28725013-28725013
23 CHEK2 NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)SNV Conflicting interpretations of pathogenicity 140932 rs587781379 22:29107934-29107934 22:28711946-28711946
24 CHEK2 NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)SNV Conflicting interpretations of pathogenicity 5603 rs137853011 22:29091207-29091207 22:28695219-28695219
25 TP53 NM_001126112.2(TP53):c.466C>T (p.Arg156Cys)SNV Conflicting interpretations of pathogenicity 127810 rs563378859 17:7578464-7578464 17:7675146-7675146
26 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs)deletion Conflicting interpretations of pathogenicity 128042 rs555607708 22:29091857-29091857 22:28695869-28695869
27 CHEK2 NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)SNV Conflicting interpretations of pathogenicity 128050 rs587780171 22:29091742-29091742 22:28695754-28695754
28 CHEK2 NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)SNV Conflicting interpretations of pathogenicity 128054 rs139366548 22:29091220-29091220 22:28695232-28695232
29 CHEK2 NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)SNV Conflicting interpretations of pathogenicity 128056 rs200050883 22:29091178-29091178 22:28695190-28695190
30 CHEK2 NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)SNV Conflicting interpretations of pathogenicity 128059 rs540635787 22:29090061-29090061 22:28694073-28694073
31 CHEK2 NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)SNV Conflicting interpretations of pathogenicity 128063 rs587780179 22:29085140-29085140 22:28689152-28689152
32 CHEK2 NM_007194.4(CHEK2):c.542G>A (p.Arg181His)SNV Conflicting interpretations of pathogenicity 5598 rs121908701 22:29121015-29121015 22:28725027-28725027
33 RB1 NM_000321.2(RB1):c.269G>T (p.Gly90Val)SNV Conflicting interpretations of pathogenicity 458158 rs554727080 13:48916739-48916739 13:48342603-48342603
34 RB1 NM_000321.2(RB1):c.850A>G (p.Asn284Asp)SNV Conflicting interpretations of pathogenicity 458185 rs761609284 13:48937082-48937082 13:48362946-48362946
35 CHEK2 NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)SNV Uncertain significance 5600 rs121908702 22:29107974-29107974 22:28711986-28711986
36 CHEK2 NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)SNV Uncertain significance 479549 rs781678896 22:29121239-29121239 22:28725251-28725251
37 RB1 NM_000321.2(RB1):c.752G>A (p.Arg251Gln)SNV Uncertain significance 575378 rs772678500 13:48936984-48936984 13:48362848-48362848
38 RB1 NM_000321.2(RB1):c.276T>G (p.Ile92Met)SNV Uncertain significance 458162 rs1555282772 13:48916746-48916746 13:48342610-48342610
39 TP53 NM_001126112.2(TP53):c.760A>G (p.Ile254Val)SNV Uncertain significance 406605 rs746601313 17:7577521-7577521 17:7674203-7674203
40 CHEK2 NM_007194.4(CHEK2):c.937G>A (p.Val313Met)SNV Uncertain significance 410041 rs752302543 22:29095897-29095897 22:28699909-28699909
41 CHEK2 NM_007194.4(CHEK2):c.1376-13A>GSNV Uncertain significance 418624 rs1064793330 22:29090118-29090118 22:28694130-28694130
42 CHEK2 NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)SNV Uncertain significance 420003 rs750984976 22:29095867-29095867 22:28699879-28699879
43 CHEK2 NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)SNV Uncertain significance 128066 rs587780180 22:29083961-29083961 22:28687973-28687973
44 CHEK2 NM_007194.4(CHEK2):c.400G>C (p.Asp134His)SNV Uncertain significance 128072 rs372874441 22:29121275-29121275 22:28725287-28725287
45 CHEK2 NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)SNV Uncertain significance 128044 rs531398630 22:29091846-29091846 22:28695858-28695858
46 CHEK2 NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)SNV Uncertain significance 128046 rs587780167 22:29091824-29091824 22:28695836-28695836
47 TP53 NM_000546.6(TP53):c.847C>T (p.Arg283Cys)SNV Uncertain significance 127824 rs149633775 17:7577091-7577091 17:7673773-7673773
48 CHEK2 NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)SNV Uncertain significance 126909 rs121908705 22:29091154-29091154 22:28695166-28695166
49 AKT1 NM_005163.2(AKT1):c.49G>A (p.Glu17Lys)SNV Uncertain significance 13983 rs121434592 14:105246551-105246551 14:104780214-104780214
50 CHEK2 NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)SNV Uncertain significance 140938 rs564605612 22:29090030-29090030 22:28694042-28694042

Cosmic variations for Osteogenic Sarcoma:

9 (show top 50) (show all 106)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86645205 RB1 bone,tibia,osteosarcoma,chondroblastic c.1499-1G>T p.? 13:48381246-48381246 36
2 COSM93760866 GNAS bone,femur,osteosarcoma,parosteal c.2530C>T p.R844C 20:58909365-58909365 36
3 COSM93760887 GNAS bone,femur,osteosarcoma,parosteal c.2531G>A p.R844H 20:58909366-58909366 36
4 COSM93701960 bone,femur,osteosarcoma,parosteal c.601C>T p.R201C 20:58909365-58909365 36
5 COSM93630284 bone,femur,osteosarcoma,parosteal c.*508G>A p.? 20:58909366-58909366 36
6 COSM93726285 bone,femur,osteosarcoma,parosteal c.559C>T p.R187C 20:58909365-58909365 36
7 COSM87642925 bone,femur,osteosarcoma,parosteal c.94-402C>T p.? 20:58909365-58909365 36
8 COSM93779631 bone,femur,osteosarcoma,parosteal c.2489G>A p.R830H 20:58909366-58909366 36
9 COSM85345852 bone,femur,osteosarcoma,parosteal c.557G>A p.R186H 20:58909366-58909366 36
10 COSM93630265 bone,femur,osteosarcoma,parosteal c.*507C>T p.? 20:58909365-58909365 36
11 COSM89474878 bone,femur,osteosarcoma,parosteal c.*505G>A p.? 20:58909366-58909366 36
12 COSM93086636 bone,humerus,osteosarcoma,parosteal c.604C>T p.R202C 20:58909365-58909365 36
13 COSM93701978 bone,femur,osteosarcoma,parosteal c.602G>A p.R201H 20:58909366-58909366 36
14 COSM89474843 bone,humerus,osteosarcoma,parosteal c.*504C>T p.? 20:58909365-58909365 36
15 COSM87642939 bone,femur,osteosarcoma,parosteal c.94-401G>A p.? 20:58909366-58909366 36
16 COSM93086649 bone,femur,osteosarcoma,fibroblastic c.605G>A p.R202H 20:58909366-58909366 36
17 COSM93726301 bone,femur,osteosarcoma,parosteal c.560G>A p.R187H 20:58909366-58909366 36
18 COSM89672495 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 27
19 COSM115734222 RYBP bone,NS,osteosarcoma,chondroblastic c.402+1G>A p.? 3:72379039-72379039 27
20 COSM88235949 RPTOR bone,NS,osteosarcoma,chondroblastic c.2911G>A p.V971I 17:80925472-80925472 27
21 COSM86627225 RB1 bone,NS,osteosarcoma,osteoblastic c.1399C>T p.R467* 13:48380062-48380062 27
22 COSM86624252 RB1 bone,tibia,osteosarcoma,NS c.1215+1G>A p.? 13:48373493-48373493 27
23 COSM90850203 PTCH1 bone,NS,osteosarcoma,chondroblastic c.2183C>T p.T728M 9:95468818-95468818 27
24 COSM84195995 PIK3CB bone,NS,osteosarcoma,chondroblastic c.1064C>G p.A355G 3:138714706-138714706 27
25 COSM87663251 KMT2D bone,NS,osteosarcoma,chondroblastic c.16018C>T p.R5340* 12:49024612-49024612 27
26 COSM88388477 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 27
27 COSM88442911 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 27
28 COSM88389816 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 27
29 COSM88442935 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 27
30 COSM88441962 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 27
31 COSM88442922 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 27
32 COSM88441911 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 27
33 COSM88387461 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 27
34 COSM88441921 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 27
35 COSM88442892 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 27
36 COSM88441896 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 27
37 COSM88441903 KMT2C bone,femur,osteosarcoma,NS c.9182A>G p.Q3061R 7:152176271-152176271 27
38 COSM88442928 KMT2C bone,femur,osteosarcoma,NS c.5459C>G p.S1820C 7:152182401-152182401 27
39 COSM88403451 KMT2C bone,femur,osteosarcoma,NS c.10383T>G p.D3461E 7:152163194-152163194 27
40 COSM88441945 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 27
41 COSM88442903 KMT2C bone,femur,osteosarcoma,NS c.9617G>C p.R3206T 7:152167279-152167279 27
42 COSM88441951 KMT2C bone,femur,osteosarcoma,NS c.3029G>T p.C1010F 7:152224564-152224564 27
43 COSM88386438 KMT2C bone,NS,osteosarcoma,chondroblastic c.943G>A p.G315S 7:152273774-152273774 27
44 COSM88403468 KMT2C bone,NS,osteosarcoma,chondroblastic c.2468T>C p.I823T 7:152247966-152247966 27
45 COSM88389429 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 27
46 COSM88386447 KMT2C bone,femur,osteosarcoma,NS c.925C>T p.P309S 7:152273792-152273792 27
47 COSM88441939 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 27
48 COSM88441932 KMT2C bone,femur,osteosarcoma,NS c.5669G>C p.R1890P 7:152182191-152182191 27
49 COSM103034000 IDH1 bone,humerus,other,periosteal c.395G>T p.R132L 2:208248388-208248388 27
50 COSM103033796 IDH1 bone,humerus,other,periosteal c.394C>T p.R132C 2:208248389-208248389 27

Copy number variations for Osteogenic Sarcoma from CNVD:

7 (show top 50) (show all 688)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 17390 1 142600000 150300000 Gain Osteosarcoma
2 17391 1 142600000 155000000 Amplification Osteosarcoma
3 39243 10 112373403 112374403 Gain Osteosarcoma
4 39244 10 112373452 112374452 Loss Osteosarcoma
5 41292 10 15522819 15523819 Loss Osteosarcoma
6 41294 10 15581536 15582536 Loss Osteosarcoma
7 46318 10 80680600 80681600 Loss Osteosarcoma
8 46347 10 80806585 80807585 Loss Osteosarcoma
9 58796 11 69623478 69623778 Gain Osteosarcoma
10 58827 11 69805619 69805919 Loss Osteosarcoma
11 60316 11 85062165 85063165 Gain Osteosarcoma
12 60323 11 85134471 85135471 Gain Osteosarcoma
13 62537 12 10955611 10956611 Gain Osteosarcoma
14 62568 12 10980072 10981072 Gain Osteosarcoma
15 62603 12 11027103 11028103 Loss Osteosarcoma
16 63038 12 11366981 11367981 Gain Osteosarcoma
17 63258 12 11668570 11669570 Gain Osteosarcoma
18 63272 12 11686468 11687468 Loss Osteosarcoma
19 64267 12 12569624 12570624 Loss Osteosarcoma
20 64268 12 12573054 12574054 Loss Osteosarcoma
21 64280 12 12586928 12587928 Gain Osteosarcoma
22 64287 12 12597865 12598865 Loss Osteosarcoma
23 64343 12 12687540 12688540 Gain Osteosarcoma
24 64577 12 12982393 12983393 Gain Osteosarcoma
25 64986 12 14117741 14118741 Loss Osteosarcoma
26 64996 12 14185562 14186562 Gain Osteosarcoma
27 64998 12 14245323 14246323 Gain Osteosarcoma
28 65344 12 16046949 16047949 Gain Osteosarcoma
29 65345 12 16049923 16050923 Loss Osteosarcoma
30 65347 12 16051037 16052037 Gain Osteosarcoma
31 65348 12 16051062 16052062 Loss Osteosarcoma
32 65349 12 16054806 16055806 Gain Osteosarcoma
33 65384 12 16430865 16431865 Gain Osteosarcoma
34 65385 12 16433142 16434142 Loss Osteosarcoma
35 65386 12 16436484 16437484 Gain Osteosarcoma
36 65391 12 16463017 16464017 Gain Osteosarcoma
37 65392 12 16466398 16467398 Gain Osteosarcoma
38 65400 12 16603247 16604247 Loss Osteosarcoma
39 65436 12 17462418 17463418 Gain Osteosarcoma
40 65437 12 17462804 17463804 Loss Osteosarcoma
41 65493 12 1815281 1816281 Loss Osteosarcoma
42 65649 12 20337069 20338069 Gain Osteosarcoma
43 65959 12 23459482 23460482 Loss Osteosarcoma
44 65979 12 23822360 23823360 Loss Osteosarcoma
45 66478 12 29963884 29964884 Loss Osteosarcoma
46 66480 12 29986214 29987214 Gain Osteosarcoma
47 66482 12 30002256 30003256 Loss Osteosarcoma
48 66483 12 30014548 30015548 Loss Osteosarcoma
49 66485 12 30029899 30030899 Loss Osteosarcoma
50 67171 12 37173408 37174408 Loss Osteosarcoma
Sources

Expression for Osteogenic Sarcoma

About this section
Search GEO for disease gene expression data for Osteogenic Sarcoma.
Sources

Pathways for Osteogenic Sarcoma

About this section

Pathways related to Osteogenic Sarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
BRCA1 Pathway 63
Show member pathways
 11.42 TP53 RB1 CHEK2
2
Pathways Affected in Adenoid Cystic Carcinoma 1
11.25 TP53 CHEK2 ATRX
3
Integrated Cancer Pathway 1
10.79 TP53 RB1 CHEK2
4
Inhibition of Ribosome Biogenesis by p14(ARF) 63
10.71 TP53 RB1
5
LncRNA-mediated mechanisms of therapeutic resistance 1
9.88 UCA1 TP53 HOTAIR
6
PLK3 signaling events 1
9.85 TP53 CHEK2
Sources

GO Terms for Osteogenic Sarcoma

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Cellular components related to Osteogenic Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PML body GO:0016605 8.92 TP53 RB1 CHEK2 ATRX

Biological processes related to Osteogenic Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.26 TP53 ATRX
2 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.16 TP53 CHEK2
3 replicative senescence GO:0090399 8.96 TP53 CHEK2
4 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 8.8 TP53 SOX4 CHEK2
Sources

Sources for Osteogenic Sarcoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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