Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
OSRC
MCID: OST159
MIFTS: 66

Osteogenic Sarcoma (OSRC)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Osteogenic Sarcoma

About this section

MalaCards integrated aliases for Osteogenic Sarcoma:

Name: Osteogenic Sarcoma 57 11 19 58 75 73 14 75
Osteosarcoma 57 11 19 58 73 28 12 53 43 14 38 16 71 75
Neoplasms, Bone Tissue 43 71
Osteosarcoma, Somatic 57 5
Osrc 57 73
Bone Tissue Neoplasm 11
Osteosarcoma of Bone 71
Skeletal Sarcoma 11
Osteoid Sarcoma 11
Bone Sarcoma 71

Characteristics:


Inheritance:

Somatic mutation 57

Prevelance:

Osteosarcoma: 1-9/1000000 (Europe, United States) 1-9/100000 (Europe, Europe) 58

Age Of Onset:

Osteosarcoma: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
increased incidence of osteosarcoma in retinoblastoma cases with rb1 mutations
peak frequency in adolescence


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare bone diseases


External Ids:

Disease Ontology 11 DOID:3347
OMIM® 57 259500
NCIt 49 C9145
SNOMED-CT 68 189878003
MESH via Orphanet 44 D012516
ICD10 via Orphanet 32 C41.9
UMLS via Orphanet 72 C0029463
Orphanet 58 ORPHA668
MedGen 40 C0029463
UMLS 71 C0029463 C0206639 C0585442 more
Sources

Summaries for Osteogenic Sarcoma

About this section

GARD: 19 Osteosarcoma is the most common type of bone cancer. 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.

MalaCards based summary: Osteogenic Sarcoma, also known as osteosarcoma, is related to bone osteosarcoma and b-cell lymphoma. An important gene associated with Osteogenic Sarcoma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are BRCA1 Pathway and Inhibition of Ribosome Biogenesis by p14(ARF). The drugs Lithium carbonate and Heparin, bovine have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and lung, and related phenotypes are osteolysis and abnormal femoral metaphysis morphology

Orphanet: 58 Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

Disease Ontology: 11 A bone sarcoma that is located in bone that has material basis in cells of mesenchymal origin.

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

Wikipedia: 75 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

About this section

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

(show top 50) (show all 1092)
# Related Disease Score Top Affiliating Genes
1 bone osteosarcoma 32.9 TP53 RB1 CHEK2 ATRX
2 b-cell lymphoma 31.5 TUG1 TP53 RB1 PVT1 HOTAIR GAS5
3 leiomyosarcoma 31.3 TP53 RB1 CHEK2 ATRX
4 lung cancer susceptibility 3 31.3 TUG1 TP53 RB1 MIR140 HOTAIR HNF1A-AS1
5 thyroid carcinoma 31.3 UCA1 PVT1 HOTAIR GAS5
6 melanoma 31.3 XIST UCA1 TP53 RB1 PVT1 MIR140
7 breast cancer 31.1 XIST UCA1 TUG1 TP53 SOX4 RB1
8 thyroid cancer, nonmedullary, 1 31.1 TP53 SNHG12 PVT1 HOTTIP HOTAIR
9 prostate cancer 31.1 XIST UCA1 TUG1 TP53 RB1 PVT1
10 nasopharyngeal carcinoma 31.1 XIST TP53 PVT1 MIR140 HOTAIR HNF1A-AS1
11 hematologic cancer 31.0 XIST RB1 PVT1 MIR140
12 brain cancer 31.0 TP53 RB1 MIR140 DANCR
13 esophageal cancer 30.9 UCA1 TP53 RB1 PVT1 MIR140 HOTAIR
14 retinitis pigmentosa 11 30.9 XIST UCA1 TUG1 TP53 PVT1 MIR140
15 squamous cell carcinoma 30.9 UCA1 TUSC7 TUG1 TP53 RB1 HOTAIR
16 cervical cancer 30.9 UCA1 TUG1 TP53 SNHG12 RB1 PVT1
17 ovarian cancer 30.9 XIST UCA1 TUG1 TP53 RB1 PVT1
18 myeloma, multiple 30.9 UCA1 TUG1 TP53 RB1 PVT1 MIR140
19 glioma 30.9 UCA1 TP53 PVT1 MIR140 HOTTIP HOTAIR
20 gastric cancer 30.9 XIST UCA1 TUSC7 TUG1 TP53 SNHG12
21 bladder cancer 30.9 XIST UCA1 TUG1 TP53 RB1 PVT1
22 kidney cancer 30.9 TP53 PVT1 HOTAIR GAS5
23 endometrial cancer 30.8 UCA1 TUSC7 TUG1 TP53 SNHG12 RB1
24 bilateral retinoblastoma 30.8 TP53 RB1
25 pancreatic cancer 30.8 XIST UCA1 TUG1 TP53 RB1 PVT1
26 glioblastoma 30.7 XIST TUSC7 TUG1 TP53 RB1 HOTAIR
27 bladder urothelial carcinoma 30.7 TUG1 TP53 RB1 PVT1 HOTAIR GAS5
28 retinitis pigmentosa 30.7 XIST UCA1 TUG1 TP53 PVT1 MIR140
29 lung cancer 30.7 XIST UCA1 TUSC7 TUG1 TP53 SNHG12
30 hepatocellular carcinoma 30.7 XIST UCA1 TUSC7 TUG1 TP53 SOX4
31 oral squamous cell carcinoma 30.7 UCA1 TUG1 MIR140 HOTAIR
32 li-fraumeni syndrome 30.7 TP53 RB1 CHEK2 ATRX
33 leukemia, acute myeloid 30.7 UCA1 TUSC7 TUG1 TP53 MIR140 HOTAIR
34 colorectal cancer 30.7 XIST UCA1 TUSC7 TUG1 TP53 SNHG12
35 renal cell carcinoma, nonpapillary 30.6 UCA1 TUG1 TP53 PVT1 MIR140 HOTAIR
36 suppressor of tumorigenicity 3 30.6 TP53 RB1
37 esophagus squamous cell carcinoma 30.6 XIST TUG1 PVT1 HOTTIP HOTAIR GAS5
38 dedifferentiated liposarcoma 30.6 TP53 RB1 ATRX
39 li-fraumeni syndrome 1 30.5 TP53 CHEK2
40 lung squamous cell carcinoma 30.5 TUG1 TP53 RB1 PVT1 MIR140
41 high grade glioma 30.5 XIST TUSC7 TUG1 TP53 PVT1 HOTTIP
42 childhood osteosarcoma 30.3 TP53 ATRX
43 malignant pleural mesothelioma 30.3 TP53 PVT1 GAS5
44 small cell cancer of the lung 30.3 TUG1 TP53 RB1 HOTTIP HOTAIR
45 pancreatic ductal adenocarcinoma 30.2 UCA1 TUSC7 TP53 PVT1 HOTTIP HOTAIR
46 high-grade astrocytoma 30.2 TP53 ATRX
47 atypical teratoid rhabdoid tumor 30.2 TP53 HOTAIR ATRX
48 retinal cancer 30.1 TP53 RB1 MIR140
49 melanoma, cutaneous malignant 1 30.1 TP53 RB1 CHEK2
50 gliosarcoma 30.0 TP53 RB1 ATRX

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



Diseases related to Osteogenic Sarcoma
Sources

Symptoms & Phenotypes for Osteogenic Sarcoma

About this section

Human phenotypes related to Osteogenic Sarcoma:

58 30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteolysis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002797
2 abnormal femoral metaphysis morphology 30 Hallmark (90%) HP:0006489
3 joint swelling 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001386
4 pain 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012531
5 increased circulating lactate dehydrogenase concentration 30 Frequent (33%) HP:0025435
6 elevated circulating alkaline phosphatase concentration 30 Frequent (33%) HP:0003155
7 abnormal tibial metaphysis morphology 30 Frequent (33%) HP:0006491
8 fever 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001945
9 weight loss 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001824
10 pathologic fracture 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002756
11 abnormality of the metaphysis 58 Frequent (79-30%)
12 retinoblastoma 30 HP:0009919
13 osteosarcoma 30 HP:0002669
14 abnormality of the tibial metaphysis 58 Frequent (79-30%)
15 elevated alkaline phosphatase 58 Frequent (79-30%)
16 increased lactate dehydrogenase activity 58 Frequent (79-30%)
17 abnormality of the femoral metaphysis 58 Very frequent (99-80%)
18 abnormal lactate dehydrogenase activity 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Osteogenic Sarcoma

About this section

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

(show top 50) (show all 258)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Phase 4 554-13-2
2
Heparin, bovine Approved, Investigational, Withdrawn Phase 4 9005-49-6 22833565 9812414 772
3
Reviparin Approved, Investigational Phase 4 9041-08-1
4
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
5 Psychotropic Drugs Phase 4
6 Antidepressive Agents Phase 4
7 Antirheumatic Agents Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Analgesics Phase 4
10 Anti-Inflammatory Agents, Non-Steroidal Phase 4
11 Anti-Inflammatory Agents Phase 4
12 Fibrinolytic Agents Phase 4
13 Calcium heparin Phase 4
14 Anticoagulants Phase 4
15 Heparin, Low-Molecular-Weight Phase 4
16 Antipyretics Phase 4
17 Cyclooxygenase Inhibitors Phase 4
18 Platelet Aggregation Inhibitors Phase 4
19
Picropodophyllin Approved, Investigational Phase 3 518-28-5, 477-47-4 10607 72435
20
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
21
Diphenhydramine Approved, Investigational Phase 2, Phase 3 147-24-0, 58-73-1 3100
22
Promethazine Approved, Investigational Phase 2, Phase 3 60-87-7 4927
23
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
24
Sorafenib Approved, Investigational Phase 2, Phase 3 284461-73-0 216239
25
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
26
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
27
Plasminogen Approved Phase 3 9001-91-6
28
Tranexamic acid Approved Phase 3 1197-18-8 5526
29
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
30
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
31
Ifosfamide Approved Phase 3 3778-73-2 3690
32
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
33
Cisplatin Approved Phase 3 15663-27-1 2767 5702198 441203
34
Etoposide Approved Phase 3 33419-42-0 36462
35
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
36
Zoledronic acid Approved Phase 3 118072-93-8 68740
37
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
38
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
39
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
40 Grape Approved Phase 3
41 Cranberry Approved, Investigational Phase 3
42
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
43
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
44
Lenograstim Approved, Investigational Phase 3 135968-09-1
45
Lysine Approved, Nutraceutical Phase 3 56-87-1 5962
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
47
Vatalanib Investigational Phase 2, Phase 3 212141-54-3 151194
48
Fibrinolysin Investigational Phase 3 9004-09-5
49
Palifosfamide Investigational Phase 3 31645-39-3 100427
50
Camptothecin Experimental Phase 3 7689-03-4 24360

Interventional clinical trials:

(show top 50) (show all 370)
# 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 An Open Label, Single Centre, Single Arm, Prospective Feasibility Study Evaluating the Effectiveness of Near-infrared Fluorescence (NIRF) Using Indo-cyanine Green (ICG) in Minimally Invasive Paediatric Oncology Surgery (MIS) Recruiting NCT04854018 Phase 4 Indocyanine green
4 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
5 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
6 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
7 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
8 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 Unknown status NCT02856048 Phase 2, Phase 3 Triptorelin (GnRHa) + Chemotherapy
9 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
10 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
11 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
12 A RANDOMISED TRIAL OF CHEMOTHERAPY WITH OR WITHOUT GRANULOCYTE COLONY-STIMULATING FACTOR IN OPERABLE OSTEOSARCOMA Completed NCT00002539 Phase 3 cisplatin;doxorubicin hydrochloride
13 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
14 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
15 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
16 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
17 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
18 3D Gait Analysis to Determine Functional Limitations and Evaluate a Training Intervention in Young People With Tumor Endoprosthesis of the Lower Extremity Completed NCT04963517 Phase 2, Phase 3
19 A Phase 3 Randomized Controlled Trial Comparing Open vs Thoracoscopic Management of Pulmonary Metastases in Patients With Osteosarcoma Recruiting NCT05235165 Phase 3
20 Neoadjuvant Three-component Chemotherapy Based on a Combination of Doxorubicin, Cisplatin and Methotrexate in Patients Aged 24-40 Years With Primary Bone Tumors to Increase the Response Rate Compared With Two-component Chemotherapy Recruiting NCT05057130 Phase 2, Phase 3 Doxorubicin, Cisplatin, Methotrexate;Doxorubicin, Cisplatin
21 Does Perioperative Use of Tranexamic (TXA) in Bone Tumor Surgery Reduce Blood Loss and Transfusion Requirements? A Double-blinded Randomized Controlled Trial Recruiting NCT05024253 Phase 3 Tranexamic acid injection
22 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
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 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
25 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
26 A Phase 3 Randomised Double-Blinded Placebo-Controlled Study of Use of GnRHa During Chemotherapy for Fertility Protection of Young Women and Teenagers With Cancer Not yet recruiting NCT05328258 Phase 3 Triptorelin Embonate;Sodium Chloride solution 0.9%
27 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Terminated NCT01987596 Phase 3
28 A Study Multicenter Randomized to Assess the Efficacy and Toxicity of Adding Metronomic Therapy to the Standard Treatment of Patients With High Grade Malignant Osteosarcoma With Metastatic Lung Disease at Diagnosis and Primary Resectable Tumor: A Study by the Latin American Group for Treatment of Osteosarcoma Unknown status NCT03063983 Phase 2 Cyclophosphamide;Methotrexate
29 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
30 Evaluation of Curcumin Formulation, and Ashwagandha Root Powder Extract in the Management of Advanced High Grade Osteosarcoma" Unknown status NCT00689195 Phase 1, Phase 2
31 A Randomized, Controlled Multicenter Trial of Endostar Combined With Chemotherapy for Treatment of Osteosarcoma Unknown status NCT01002092 Phase 2 Chemotherapy;Endostar
32 Feasibility Study of Interval Compressed Regimen Using Four-drugs for Osteosarcoma Unknown status NCT03390946 Phase 2 Poor responder group adjuvant chemotherapy;Good responder group adjuvant chemotherapy
33 Apatinib Second Line Treatment for Advanced Osteosarcoma and Soft Tissue Sarcomas ,Openting ,Single Center, One-armed Clinical Study. Unknown status NCT03163381 Phase 2 Apatinib
34 Phase II Study of Everolimus in Children and Adolescents With Refractory or Relapsed Osteosarcoma Unknown status NCT01216826 Phase 2 Everolimus
35 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
36 Haploidentical Stem Cell Transplantation Followed by NK Cell Infusion in Patients With High-risk Solid Tumors Who Failed Autologous Stem Cell Transplantation Unknown status NCT01807468 Phase 2
37 Phase I Study of TQB3525, Phosphatidylinositol-3-Kinase α and δ Inhibitors, in Patients With Advanced Bone Sarcomas Unknown status NCT04690725 Phase 1, Phase 2 TQB3525
38 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
39 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
40 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
41 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
42 Osteosarcoma 1999-A Study Of Intensive Chemotherapy Utilizing Ifosfamide, Carboplatin, and Doxorubicin for Adjuvant Chemotherapy for Treatment of Osteosarcoma Completed NCT00145639 Phase 2 Ifosfamide, Carboplatin, Doxorubicin
43 A Phase 1/2, Multicenter, Open-label, Dose-finding Study to Assess the Safety, Tolerability, and Preliminary Efficacy of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent or Refractory Solid Tumors. Completed NCT01962103 Phase 1, Phase 2 nab-paclitaxel
44 A Phase II Study of Pazopanib With Oral Topotecan in Patients With Metastatic and Non-resectable Soft Tissue and Bone Sarcomas Completed NCT02357810 Phase 2 Pazopanib Hydrochloride;Oral Topotecan Hydrochloride
45 A Phase II Clinical and Correlative Study of BAY 43-9006 (Sorafenib) IND 69,896 in Sarcoma Completed NCT00330421 Phase 2 sorafenib tosylate
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 A Phase II, Open Label, Non-randomized Study of Second or Third Line Treatment With the Combination of Sorafenib and Everolimus in Patients Affected by Relapsed and Non-resectable High-grade Osteosarcoma Completed NCT01804374 Phase 2 Sorafenib;Everolimus
48 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)
49 A Study of Bevacizumab, a Humanized Monoclonal Antibody Against Vascular Endothelial Growth Factor (VEGF), in Combination With Chemotherapy for Treatment of Osteosarcoma Completed NCT00667342 Phase 2 Cisplatin;Doxorubicin;Methotrexate;Ifosfamide;etoposide
50 A Phase II Study of Eribulin (NSC# 707389) in Recurrent or Refractory Osteosarcoma Completed NCT02097238 Phase 2 Eribulin Mesylate

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 28
Sources

Anatomical Context for Osteogenic Sarcoma

About this section

Organs/tissues related to Osteogenic Sarcoma:

FMA: Bone
MalaCards : Bone, T Cells, Lung, Bone Marrow, Myeloid, Endothelial, Brain
Sources

Publications for Osteogenic Sarcoma

About this section

Articles related to Osteogenic Sarcoma:

(show top 50) (show all 28803)
# Title Authors PMID Year
1
Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling. 53 62 57
19286668 2009
2
The membrane-cytoskeleton linker ezrin is necessary for osteosarcoma metastasis. 53 62 57
14704791 2004
3
Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. 53 62 5
11746983 2002
4
Osteosarcoma following retinoblastoma: age at onset and latency period. 53 62 57
11449317 2001
5
Mechanism of chemoresistance mediated by miR-140 in human osteosarcoma and colon cancer cells. 53 62 46
19734943 2009
6
Investigations on a clinically and functionally unusual and novel germline p53 mutation. 62 5
12085209 2002
7
Metastasis-associated differences in gene expression in a murine model of osteosarcoma. 62 57
11325848 2001
8
An orthotopic model of murine osteosarcoma with clonally related variants differing in pulmonary metastatic potential. 62 57
11315100 2000
9
Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone. 62 57
9718349 1998
10
Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma. 62 57
2036639 1991
11
Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. 62 57
3004203 1986
12
Osteosarcoma: fifteen years later. 62 57
3906399 1985
13
Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition. 62 57
2994066 1985
14
Familial osteosarcoma associated with 13;14 chromosomal rearrangement. 62 57
3857964 1985
15
Osteogenic sarcoma in siblings. 62 57
288942 1979
16
An incident of familial cancer, including 3 cases of osteogenic sarcoma. 62 57
4315294 1970
17
Osteogenic sarcoma in four siblings. 62 57
5222601 1966
18
Cutaneous pleomorphic fibromas arising in patients with germline TP53 mutations. 5
32187703 2020
19
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
20
Molecular Characterization of Somatic Alterations in Dukes' B and C Colorectal Cancers by Targeted Sequencing. 5
28769798 2017
21
Intratumor heterogeneity in hepatocellular carcinoma. 5
25248380 2015
22
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
23
Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas. 5
24190505 2014
24
A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. 5
21232794 2011
25
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 5
12826609 2003
26
Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene. 5
9472631 1998
27
Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). 5
8401536 1993
28
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 5
1565143 1992
29
R1507, a fully human monoclonal antibody targeting IGF-1R, is effective alone and in combination with rapamycin in inhibiting growth of osteosarcoma xenografts. 53 62
20486173 2010
30
Proteasome inhibition with bortezomib suppresses growth and induces apoptosis in osteosarcoma. 53 62
19894220 2010
31
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. 53 62
20041491 2010
32
The expression and significance of IDH1 and p53 in osteosarcoma. 53 62
20459648 2010
33
Retinoid-suppressed phosphorylation of RARalpha mediates the differentiation pathway of osteosarcoma cells. 53 62
20190807 2010
34
Oleanane triterpenoid CDDO-Me induces apoptosis in multidrug resistant osteosarcoma cells through inhibition of Stat3 pathway. 53 62
20459702 2010
35
Expression analysis of genes associated with human osteosarcoma tumors shows correlation of RUNX2 overexpression with poor response to chemotherapy. 53 62
20465837 2010
36
Inhibition of ABCB1 (MDR1) expression by an siRNA nanoparticulate delivery system to overcome drug resistance in osteosarcoma. 53 62
20520719 2010
37
Evaluation of short-term effects of rare earth and other elements used in magnesium alloys on primary cells and cell lines. 53 62
19800429 2010
38
Immunohistochemical identification of the PTHR1 parathyroid hormone receptor in normal and neoplastic human tissues. 53 62
20156969 2010
39
Glycation of PDGF results in decreased biological activity. 53 62
20083221 2010
40
RUNX2 regulates the effects of TNFalpha on proliferation and apoptosis in SaOs-2 cells. 53 62
20053387 2010
41
Synergistic antitumor effect of the activated PPARgamma and retinoid receptors on human osteosarcoma. 53 62
20371684 2010
42
Preclinical evidence that use of TRAIL in Ewing's sarcoma and osteosarcoma therapy inhibits tumor growth, prevents osteolysis, and increases animal survival. 53 62
20371692 2010
43
APEX1 gene amplification and its protein overexpression in osteosarcoma: correlation with recurrence, metastasis, and survival. 53 62
20218738 2010
44
RANK-Fc inhibits malignancy via inhibiting ERK activation and evoking caspase-3-mediated anoikis in human osteosarcoma cells. 53 62
20383567 2010
45
Expression of Smad and its signalling cascade in osteosarcoma. 53 62
20350217 2010
46
2-methoxyestradiol-mediated anti-tumor effect increases osteoprotegerin expression in osteosarcoma cells. 53 62
20082321 2010
47
The role of VE-cadherin in osteosarcoma cells. 53 62
19760520 2010
48
p73 is essential for vitamin D-mediated osteoblastic differentiation. 53 62
19779497 2010
49
CK beta 8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory responses. 53 62
19951712 2010
50
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. 53 62
19597852 2010
Sources

Variations for Osteogenic Sarcoma

About this section

ClinVar genetic disease variations for Osteogenic Sarcoma:

5 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC2 NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) DEL Other
 438794 rs1555508929 GRCh37: 16:2126513-2126514
GRCh38: 16:2076512-2076513
2 CHEK2 NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) SNV Pathogenic
 5595 rs137853008 GRCh37: 22:29130661-29130661
GRCh38: 22:28734673-28734673
3 TP53 NM_000546.6(TP53):c.475_481dup (p.Ala161fs) DUP Pathogenic
 12380 rs863223301 GRCh37: 17:7578448-7578449
GRCh38: 17:7675130-7675131
4 CHEK2 NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) SNV Pathogenic
 5603 rs137853011 GRCh37: 22:29091207-29091207
GRCh38: 22:28695219-28695219
5 ATRX NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic
 11728 rs122445099 GRCh37: X:76776310-76776310
GRCh38: X:77520832-77520832
6 CHEK2 NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) SNV Pathogenic
 5594 rs17883862 GRCh37: 22:29130456-29130456
GRCh38: 22:28734468-28734468
7 TP53 NM_000546.6(TP53):c.722C>T (p.Ser241Phe) SNV Pathogenic
 12359 rs28934573 GRCh37: 17:7577559-7577559
GRCh38: 17:7674241-7674241
8 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) DEL Pathogenic
Pathogenic
 128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
9 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic
 12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
10 CHEK2 NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) SNV Pathogenic
 141381 rs587781705 GRCh37: 22:29130494-29130494
GRCh38: 22:28734506-28734506
11 CHEK2 NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) SNV Pathogenic
 182452 rs730881701 GRCh37: 22:29121266-29121266
GRCh38: 22:28725278-28725278
12 CHEK2 NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) SNV Pathogenic
 439092 rs200917541 GRCh37: 22:29121258-29121258
GRCh38: 22:28725270-28725270
13 CHEK2 NM_007194.4(CHEK2):c.444+1G>A SNV Pathogenic
 128075 rs121908698 GRCh37: 22:29121230-29121230
GRCh38: 22:28725242-28725242
14 CHEK2 NM_007194.4(CHEK2):c.444+2T>C SNV Pathogenic
 422638 rs560596101 GRCh37: 22:29121229-29121229
GRCh38: 22:28725241-28725241
15 RB1 NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) SNV Pathogenic
 13087 rs137853294 GRCh37: 13:49033844-49033844
GRCh38: 13:48459708-48459708
16 RB1 NM_000321.3(RB1):c.1215+1G>A SNV Pathogenic
 126832 rs587776783 GRCh37: 13:48947629-48947629
GRCh38: 13:48373493-48373493
17 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic
 12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
18 TP53 NM_000546.6(TP53):c.559+1G>A SNV Pathogenic
 428908 rs1131691042 GRCh37: 17:7578370-7578370
GRCh38: 17:7675052-7675052
19 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic
 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
20 TP53 NM_000546.6(TP53):c.96+1G>T SNV Pathogenic
 482212 rs1131691003 GRCh37: 17:7579699-7579699
GRCh38: 17:7676381-7676381
21 CHEK2 NM_007194.4(CHEK2):c.319+2T>A SNV Likely Pathogenic
 142352 rs587782401 GRCh37: 22:29130389-29130389
GRCh38: 22:28734401-28734401
22 AKT1 NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) SNV Likely Pathogenic
 13983 rs121434592 GRCh37: 14:105246551-105246551
GRCh38: 14:104780214-104780214
23 TP53 NM_000546.6(TP53):c.773A>G (p.Glu258Gly) SNV Likely Pathogenic
 406590 rs1060501201 GRCh37: 17:7577508-7577508
GRCh38: 17:7674190-7674190
24 TP53 NM_000546.6(TP53):c.799C>T (p.Arg267Trp) SNV Likely Pathogenic
 141764 rs55832599 GRCh37: 17:7577139-7577139
GRCh38: 17:7673821-7673821
25 CHEK2 NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) SNV Likely Pathogenic
 5591 rs17879961 GRCh37: 22:29121087-29121087
GRCh38: 22:28725099-28725099
26 CHEK2 NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) SNV Uncertain Significance
 133888 rs371657037 GRCh37: 22:29130553-29130553
GRCh38: 22:28734565-28734565
27 CHEK2 NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) SNV Uncertain Significance
 142041 rs149991239 GRCh37: 22:29130534-29130534
GRCh38: 22:28734546-28734546
28 CHEK2 NM_007194.4(CHEK2):c.400G>C (p.Asp134His) SNV Uncertain Significance
 128072 rs372874441 GRCh37: 22:29121275-29121275
GRCh38: 22:28725287-28725287
29 CHEK2 NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) SNV Uncertain Significance
 479549 rs781678896 GRCh37: 22:29121239-29121239
GRCh38: 22:28725251-28725251
30 CHEK2 NM_007194.4(CHEK2):c.542G>A (p.Arg181His) SNV Uncertain Significance
 5598 rs121908701 GRCh37: 22:29121015-29121015
GRCh38: 22:28725027-28725027
31 CHEK2 NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) SNV Uncertain Significance
 5600 rs121908702 GRCh37: 22:29107974-29107974
GRCh38: 22:28711986-28711986
32 CHEK2 NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) SNV Uncertain Significance
 216651 rs779457035 GRCh37: 22:29107947-29107947
GRCh38: 22:28711959-28711959
33 CHEK2 NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) SNV Uncertain Significance
 140932 rs587781379 GRCh37: 22:29107934-29107934
GRCh38: 22:28711946-28711946
34 CHEK2 NM_007194.4(CHEK2):c.937G>A (p.Val313Met) SNV Uncertain Significance
 410041 rs752302543 GRCh37: 22:29095897-29095897
GRCh38: 22:28699909-28699909
35 CHEK2 NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) SNV Uncertain Significance
 420003 rs750984976 GRCh37: 22:29095867-29095867
GRCh38: 22:28699879-28699879
36 CHEK2 NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) SNV Uncertain Significance
 182457 rs730881705 GRCh37: 22:29092960-29092960
GRCh38: 22:28696972-28696972
37 TP53 NM_000546.6(TP53):c.760A>G (p.Ile254Val) SNV Uncertain Significance
 406605 rs746601313 GRCh37: 17:7577521-7577521
GRCh38: 17:7674203-7674203
38 TP53 NM_000546.6(TP53):c.847C>T (p.Arg283Cys) SNV Uncertain Significance
 127824 rs149633775 GRCh37: 17:7577091-7577091
GRCh38: 17:7673773-7673773
39 CHEK2 NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) SNV Uncertain Significance
 128044 rs531398630 GRCh37: 22:29091846-29091846
GRCh38: 22:28695858-28695858
40 CHEK2 NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) SNV Uncertain Significance
 128046 rs587780167 GRCh37: 22:29091824-29091824
GRCh38: 22:28695836-28695836
41 CHEK2 NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) SNV Uncertain Significance
 140959 rs375130261 GRCh37: 22:29091816-29091816
GRCh38: 22:28695828-28695828
42 CHEK2 NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) SNV Uncertain Significance
 182435 rs730881690 GRCh37: 22:29091779-29091779
GRCh38: 22:28695791-28695791
43 CHEK2 NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) SNV Uncertain Significance
 128050 rs587780171 GRCh37: 22:29091742-29091742
GRCh38: 22:28695754-28695754
44 CHEK2 NM_007194.4(CHEK2):c.1375+3A>G SNV Uncertain Significance
 232607 rs876659868 GRCh37: 22:29091112-29091112
GRCh38: 22:28695124-28695124
45 CHEK2 NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) SNV Uncertain Significance
 128059 rs540635787 GRCh37: 22:29090061-29090061
GRCh38: 22:28694073-28694073
46 CHEK2 NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) SNV Uncertain Significance
 142479 rs587782489 GRCh37: 22:29085155-29085155
GRCh38: 22:28689167-28689167
47 CHEK2 NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) SNV Uncertain Significance
 128063 rs587780179 GRCh37: 22:29085140-29085140
GRCh38: 22:28689152-28689152
48 CHEK2 NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) SNV Uncertain Significance
 141856 rs17882942 GRCh37: 22:29085131-29085131
GRCh38: 22:28689143-28689143
49 TP53 NM_000546.6(TP53):c.461G>A (p.Gly154Asp) SNV Uncertain Significance
 237950 rs762846821 GRCh37: 17:7578469-7578469
GRCh38: 17:7675151-7675151
50 TP53 NM_000546.6(TP53):c.466C>T (p.Arg156Cys) SNV Uncertain Significance
 127810 rs563378859 GRCh37: 17:7578464-7578464
GRCh38: 17:7675146-7675146

Cosmic variations for Osteogenic Sarcoma:

8 (show top 50) (show all 59)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM148074003 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
2 COSM131036045 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
3 COSM148686649 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
4 COSM89672495 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
5 COSM151631645 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
6 COSM151254331 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
7 COSM111409195 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
8 COSM151575488 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
9 COSM138949448 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
10 COSM109750654 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
11 COSM140853916 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
12 COSM151530034 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
13 COSM151945900 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
14 COSM151429880 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
15 COSM112796684 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
16 COSM150583656 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
17 COSM106832283 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2920A>G p.T974A 19:11021836-11021836 17
18 COSM149479313 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 17
19 COSM86627225 RB1 bone,NS,osteosarcoma,osteoblastic c.1399C>T p.R467* 13:48380062-48380062 17
20 COSM115734222 RYBP bone,NS,osteosarcoma,chondroblastic c.402+1G>A p.? 3:72379039-72379039 16
21 COSM130769841 RPTOR bone,NS,osteosarcoma,chondroblastic c.2437G>A p.V813I 17:80925472-80925472 16
22 COSM88235949 RPTOR bone,NS,osteosarcoma,chondroblastic c.2911G>A p.V971I 17:80925472-80925472 16
23 COSM86645205 RB1 bone,NS,osteosarcoma,chondroblastic c.1499-1G>T p.? 13:48381246-48381246 16
24 COSM108535125 PTCH1 bone,NS,osteosarcoma,chondroblastic c.1985C>T p.T662M 9:95468818-95468818 16
25 COSM103471694 PTCH1 bone,NS,osteosarcoma,chondroblastic c.1730C>T p.T577M 9:95468818-95468818 16
26 COSM110735154 PTCH1 bone,NS,osteosarcoma,chondroblastic c.1985C>T p.T662M 9:95468818-95468818 16
27 COSM108479990 PTCH1 bone,NS,osteosarcoma,chondroblastic c.1730C>T p.T577M 9:95468818-95468818 16
28 COSM98553604 PTCH1 bone,NS,osteosarcoma,chondroblastic c.2180C>T p.T727M 9:95468818-95468818 16
29 COSM106850234 PTCH1 bone,NS,osteosarcoma,chondroblastic c.1730C>T p.T577M 9:95468818-95468818 16
30 COSM90850203 PTCH1 bone,NS,osteosarcoma,chondroblastic c.2183C>T p.T728M 9:95468818-95468818 16
31 COSM84195995 PIK3CB bone,NS,osteosarcoma,chondroblastic c.1064C>G p.A355G 3:138714706-138714706 16
32 COSM117794805 PIK3CB bone,NS,osteosarcoma,chondroblastic c.1064C>G p.A355G 3:138714706-138714706 16
33 COSM87663251 KMT2D bone,NS,osteosarcoma,chondroblastic c.16018C>T p.R5340* 12:49024612-49024612 16
34 COSM88387461 KMT2C bone,NS,osteosarcoma,chondroblastic c.2512G>A p.G838S 7:152247922-152247922 16
35 COSM90789498 KMT2C bone,NS,osteosarcoma,chondroblastic c.2512G>A p.G838S 7:152247922-152247922 16
36 COSM90788194 KMT2C bone,NS,osteosarcoma,chondroblastic c.943G>A p.G315S 7:152273774-152273774 16
37 COSM90809622 KMT2C bone,NS,osteosarcoma,chondroblastic c.2468T>C p.I823T 7:152247966-152247966 16
38 COSM88386438 KMT2C bone,NS,osteosarcoma,chondroblastic c.943G>A p.G315S 7:152273774-152273774 16
39 COSM88403468 KMT2C bone,NS,osteosarcoma,chondroblastic c.2468T>C p.I823T 7:152247966-152247966 16
40 COSM93701960 GNAS bone,NS,osteosarcoma,parosteal c.601C>T p.R201C 20:58909365-58909365 16
41 COSM93760866 GNAS bone,NS,osteosarcoma,parosteal c.2530C>T p.R844C 20:58909365-58909365 16
42 COSM93630284 GNAS bone,NS,osteosarcoma,parosteal c.*508G>A p.? 20:58909366-58909366 16
43 COSM93726285 GNAS bone,NS,osteosarcoma,parosteal c.559C>T p.R187C 20:58909365-58909365 16
44 COSM87642925 GNAS bone,NS,osteosarcoma,parosteal c.94-402C>T p.? 20:58909365-58909365 16
45 COSM93779631 GNAS bone,NS,osteosarcoma,parosteal c.2489G>A p.R830H 20:58909366-58909366 16
46 COSM85345852 GNAS bone,NS,osteosarcoma,parosteal c.557G>A p.R186H 20:58909366-58909366 16
47 COSM93630265 GNAS bone,NS,osteosarcoma,parosteal c.*507C>T p.? 20:58909365-58909365 16
48 COSM89474878 GNAS bone,NS,osteosarcoma,parosteal c.*505G>A p.? 20:58909366-58909366 16
49 COSM93086636 GNAS bone,NS,osteosarcoma,parosteal c.604C>T p.R202C 20:58909365-58909365 16
50 COSM93779606 GNAS bone,NS,osteosarcoma,chondroblastic c.2488C>T p.R830C 20:58909365-58909365 16

Copy number variations for Osteogenic Sarcoma from CNVD:

6 (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 64
Show member pathways
 11.35 TP53 RB1 CHEK2
2
Inhibition of Ribosome Biogenesis by p14(ARF) 64
10.75 TP53 RB1
3
ncRNAs involved in STAT3 signaling in hepatocellular carcinoma 74
10.62 UCA1 SOX4
4
H19 action Rb-E2F1 signaling and CDK-Beta-catenin activity 74
10.47 SOX4 RB1
5
Integrated cancer pathway 74
10.38 TP53 RB1 CHEK2
6
Glycolysis in senescence 74
10.06 TP53 RB1
7
PLK3 signaling events 61
9.73 TP53 CHEK2
Sources

GO Terms for Osteogenic Sarcoma

About this section

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

# Name GO ID Score Top Affiliating Genes
1 PML body GO:0016605 9.23 TP53 RB1 CHEK2 ATRX

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to xenobiotic stimulus GO:0071466 9.73 TP53 RB1 CHEK2
2 thymocyte apoptotic process GO:0070242 9.62 TP53 CHEK2
3 negative regulation of glial cell proliferation GO:0060253 9.46 TP53 RB1
4 regulation of DNA damage response, signal transduction by p53 class mediator GO:0043516 9.26 TP53 SOX4
5 glial cell proliferation GO:0014009 9.1 TP53 SOX4 RB1

Molecular functions related to Osteogenic Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 miRNA binding GO:0035198 8.92 SOX4 PVT1 GAS5
Sources

Sources for Osteogenic Sarcoma

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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
Content
Loading form....