Osteosarcoma, Somatic malady

Genetic diseases, Rare diseases, Bone diseases, Cancer diseases categories

Aliases & Classifications for Osteosarcoma, Somatic

About this section
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 26ICD10 via Orphanet, 62UMLS via Orphanet, 34MESH via Orphanet
See all sources

Aliases & Descriptions for Osteosarcoma, Somatic:

Name: Osteosarcoma, Somatic 46
Osteosarcoma 46 8 9 42 10 44 48 22 61
Osteogenic Sarcoma 46 8 42 48
Neoplasms, Bone Tissue 61
Bone Tissue Neoplasm 8
Osteosarcoma of Bone 61
Skeletal Sarcoma 8
Osteoid Sarcoma 8
Bone Sarcoma 61


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 259500
Disease Ontology8 DOID:3347
NCIt39 C9145
MeSH33 D012516
Orphanet48 668
ICD10 via Orphanet26 C40, C41
UMLS via Orphanet62 C0029463
MESH via Orphanet34 D012516

Summaries for Osteosarcoma, Somatic

About this section
NIH Rare Diseases:42 Osteosarcoma is the most common cancerous (malignant) bone tumor in youth. 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. 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. 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. treatment usually starts after a biopsy of the tumor and includes chemotherapy followed by surgery. last updated: 6/7/2009

MalaCards based summary: Osteosarcoma, Somatic, also known as osteosarcoma, is related to sarcoma and rhabdomyosarcoma, and has symptoms including abnormality of metabolism/homeostasis, osteosarcoma and retinoblastoma. An important gene associated with Osteosarcoma, Somatic is RB1 (retinoblastoma 1), and among its related pathways are E2F transcription factor network and Cell cycle Regulation of G1 S transition part 2 . The drugs methotrexate and methotrexate sodium and the compounds [alcl] and 7-hydroxystaurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone and bone, and related mouse phenotypes are pigmentation and adipose tissue.

Disease Ontology:8 A bone cancer that is located in bone that has material basis in cells of mesenchymal origin.

Description from OMIM:46 259500

Related Diseases for Osteosarcoma, Somatic

About this section

Diseases related to Osteosarcoma, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 249)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma31.4TP53, CHEK2, RB1
2rhabdomyosarcoma30.6RB1, TP53
3liposarcoma30.5TP53, RB1
4leiomyosarcoma30.4RB1, TP53
5li-fraumeni syndrome30.2RB1, CHEK2, TP53
6transitional cell carcinoma30.2TP53, RB1
7neuroblastoma30.1MYC, TP53
8breast cancer29.9RB1, CHEK2, MYC, TP53
9lung cancer29.9RB1, MYC, TP53
10adenoma29.9RB1, MYC, TP53
11leukemia29.8RB1, CHEK2, MYC, TP53
12ataxia-telangiectasia29.7CHEK2, TP53
13retinoblastoma29.7TP53, MYC, CHEK2, RB1
14hepatocellular carcinoma29.6RB1, MYC, TP53
15adenocarcinoma29.6TP53, MYC, CHEK2, RB1
16prostate cancer29.5MYC, CHEK2, RB1
17melanoma29.4RB1, CHEK2, MYC, TP53
18glioblastoma29.2RB1, CHEK2, MYC, TP53
19pediatric osteosarcoma10.7
20telangiectatic osteogenic sarcoma10.6
21multifocal osteogenic sarcoma10.6
23periosteal osteogenic sarcoma10.5
24small cell osteogenic sarcoma10.5
25fibrous histiocytoma10.4
26bone osteosarcoma10.4
28cerebral primitive neuroectodermal tumor10.4MYC
29rothmund-thomson syndrome10.4
30synchronous multifocal osteogenic sarcoma10.4
31kidney osteogenic sarcoma10.4
32intracortical osteogenic sarcoma10.4
34fibrous dysplasia10.4
35asynchronous multifocal osteogenic sarcoma10.4
37mediastinal osteogenic sarcoma10.4
38hepatic osteogenic sarcoma10.4
39childhood parosteal osteogenic sarcoma10.4
40giant cell tumor10.4
42ewing sarcoma10.3
43malignant fibrous histiocytoma of bone10.3
46myositis ossificans10.3
49ossifying fibroma10.2

Graphical network of the top 20 diseases related to Osteosarcoma, Somatic:

Diseases related to osteosarcoma, somatic

Symptoms for Osteosarcoma, Somatic

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Osteosarcoma, Somatic:

id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis HP:0001939
2 osteosarcoma HP:0002669
3 retinoblastoma HP:0009919

Drugs & Therapeutics for Osteosarcoma, Somatic

About this section

FDA approved drugs:

id Drug Name Active Ingredient(s)13 Pharmaceutical Company Approval Date
Fusilev13 LEVOLEUCOVORIN CALCIUM Spectrum Pharmaceuticals Approved March of 2008
FDA Label: Fusilev
Malady that Drug Treats: rescue after high-dose methotrexate therapy in osteosarcoma and to reduce the toxicity of methotrexate
Indications and Usage:13 Fusilev is a folate analog indicated for:; Rescue after high-dose methotrexate therapy in osteosarcoma.; Diminishing the toxicity and counteracting the effects of impaired; methotrexate elimination and of inadvertent overdosage of folic acid; antagonists.; Use in combination chemotherapy with 5-fluorouracil in the palliative; treatment of patients with advanced metastatic colorectal cancer.(1); Limitations of Use; Fusilev is not approved for pernicious anemia and megaloblastic anemias.; Improper use may cause a hematologic remission while neurologic; manifestations continue to progress. (1.1)
DrugBank Targets:11 1. Thymidylate synthase
Mechanism of Action:13 
Target: therapeutic and toxic effects of folic acid; antagonists / therapeutic and toxic effects of fluoropyrimidines used in cancer therapy
Action: counteract/enhance
FDA: 12.1.1 Levoleucovorin effects during high-dose methotrexate therapy; Levoleucovorin is the pharmacologically active isomer of 5-formyl tetrahydrofolic acid. Levoleucovorin does not require; reduction by the enzyme dihydrofolate reductase in order to participate in reactions utilizing folates as a source of  onecarbon ; moieties. Administration of levoleucovorin can counteract the therapeutic and toxic effects of folic acid; antagonists such as methotrexate, which act by inhibiting dihydrofolate reductase.; 12.1.2 Levoleucovorin effects in combination with 5-fluorouracil; Levoleucovorin can enhance the therapeutic and toxic effects of fluoropyrimidines used in cancer therapy such as; 5-fluorouracil. 5-fluorouracil is metabolized to 5-fluoro-2'-deoxyuridine-5'-monophosphate (FdUMP), which binds to and; inhibits thymidylate synthase (an enzyme important in DNA repair and replication). Levoleucovorin is readily converted; to another reduced folate, 5,10-methylenetetrahydrofolate, which acts to stabilize the binding of FdUMP to thymidylate; synthase and thereby enhances the inhibition of this enzyme.

Drug clinical trials:

Search ClinicalTrials for Osteosarcoma, Somatic

Search NIH Clinical Center for Osteosarcoma, Somatic

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Osteosarcoma, Somatic

About this section

Genetic tests related to Osteosarcoma, Somatic:

id Genetic test Affiliating Genes
1 Osteosarcoma22

Anatomical Context for Osteosarcoma, Somatic

About this section

MalaCards organs/tissues related to Osteosarcoma, Somatic:


FMA organs/tissues related to Osteosarcoma, Somatic:


Animal Models for Osteosarcoma, Somatic or affiliated genes

About this section

MGI Mouse Phenotypes related to Osteosarcoma, Somatic:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9RB1, MYC, TP53
2MP:00053758.8TP53, MYC, RB1
3MP:00053718.7TP53, MYC, RB1
4MP:00053708.7RB1, MYC, TP53
5MP:00053828.4RB1, MYC, TP53
6MP:00020068.3RB1, CHEK2, MYC, TP53
7MP:00053978.2RB1, CHEK2, MYC, TP53
8MP:00053878.1RB1, CHEK2, MYC, TP53
9MP:00053848.0TP53, MYC, CHEK2, RB1

Publications for Osteosarcoma, Somatic

About this section

Articles related to Osteosarcoma, Somatic:

Analysis of oncogene, tumor suppressor gene, and chromosomal alterations in HeLa x osteosarcoma somatic cell hybrids. (10331742)

Variations for Osteosarcoma, Somatic

About this section

Clinvar genetic disease variations for Osteosarcoma, Somatic:

id Gene Variation Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.722C> T (p.Ser241Phe)single nucleotide variantLikely pathogenic, Pathogenicrs28934573GRCh37Chr 17, 7577559: 7577559
2TP53TP53, 7-BP INS, NT13160insertionPathogenic
3CHEK2NM_007194.3(CHEK2): c.49G> T (p.Ala17Ser)single nucleotide variantPathogenicrs137853008GRCh37Chr 22, 29130661: 29130661

Cosmic variations for Osteosarcoma, Somatic:

id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)

Expression for genes affiliated with Osteosarcoma, Somatic

About this section
Search GEO for disease gene expression data for Osteosarcoma, Somatic.

Pathways for genes affiliated with Osteosarcoma, Somatic

About this section

Pathways related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RB1, MYC
Show member pathways
Cell cycle ESR1 regulation of G1 S transition59
Immune response MIF JAB1 signaling59
Cell cycle Cell cycle generic schema 59
9.5MYC, RB1
39.5RB1, MYC
Show member pathways
Catalytic cycle of mammalian FMOs36
59.2TP53, RB1
Show member pathways
9.2RB1, TP53
Show member pathways
9.1MYC, TP53
89.1MYC, TP53
99.1MYC, TP53
109.1TP53, MYC
119.1MYC, TP53
129.1TP53, MYC
Show member pathways
9.1MYC, TP53
149.1MYC, TP53
Show member pathways
p53 pathway36
9.0TP53, CHEK2
169.0CHEK2, TP53
179.0CHEK2, TP53
Show member pathways
DNA damage Role of SUMO in p53 regulation59
9.0TP53, CHEK2
Show member pathways
ATM Signaling Pathway36
9.0TP53, CHEK2
209.0TP53, CHEK2
Show member pathways
9.0CHEK2, TP53
228.9RB1, CHEK2, MYC
238.7MYC, TP53, RB1
248.7TP53, MYC, RB1
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.7TP53, RB1, MYC
268.7RB1, TP53, MYC
278.7RB1, TP53, MYC
288.7RB1, MYC, TP53
Show member pathways
8.7TP53, MYC, RB1
308.7TP53, MYC, RB1
318.7RB1, MYC, TP53
328.7RB1, MYC, TP53
Show member pathways
8.7MYC, TP53, RB1
Show member pathways
8.7TP53, MYC, RB1
Show member pathways
Signaling Pathways in Glioblastoma36
8.7RB1, MYC, TP53
Show member pathways
8.6TP53, RB1, CHEK2
Show member pathways
8.6RB1, TP53, CHEK2
Show member pathways
8.6TP53, CHEK2, RB1
398.5MYC, TP53, CHEK2
Show member pathways
8.5TP53, CHEK2, MYC
418.5TP53, MYC, CHEK2
Show member pathways
DNA damage response36
8.1MYC, RB1, TP53, CHEK2
438.1MYC, CHEK2, RB1, TP53
Show member pathways
Cell cycle36
8.1RB1, CHEK2, MYC, TP53
Show member pathways
8.1TP53, CHEK2, RB1, MYC
Show member pathways
8.1TP53, MYC, CHEK2, RB1
Show member pathways
8.1MYC, RB1, CHEK2, TP53
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I59
8.1TP53, RB1, CHEK2, MYC
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
8.1RB1, MYC, CHEK2, TP53
508.1CHEK2, MYC, TP53, RB1

Compounds for genes affiliated with Osteosarcoma, Somatic

About this section

Compounds related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1[alcl]449.9MYC, RB1
27-hydroxystaurosporine44 1110.6RB1, TP53
3hpvs449.6TP53, RB1
4olomoucine44 1110.6TP53, RB1
5tanshinone iia449.6TP53, MYC
610-hydroxycamptothecin449.5MYC, TP53
7aflatoxin b144 2410.5RB1, TP53
8crcs449.5TP53, RB1
9cd 437449.4MYC, TP53
10bpde449.4CHEK2, TP53
11sodium arsenite449.4MYC, TP53
12temozolomide44 1110.4TP53, CHEK2
13benzo(a)pyrene449.4TP53, RB1
14sn 3844 6010.4TP53, CHEK2
15flavopiridol44 1110.3RB1, TP53
16suberoylanilide hydroxamic acid449.3MYC, TP53
17okadaic acid44 6010.3MYC, RB1, CHEK2
18melphalan44 50 1111.2MYC, TP53
19rapamycin449.2RB1, CHEK2, MYC
20carboplatin44 50 1111.2RB1, TP53
21bortezomib44 50 1111.2TP53, MYC
22genistein44 28 60 1 24 1114.2MYC, CHEK2, RB1
23hmba449.1RB1, TP53, MYC
24depsipeptide449.1RB1, TP53, MYC
25n-(4-hydroxyphenyl)retinamide449.1MYC, TP53, RB1
26roscovitine449.1RB1, MYC, TP53
27vincristine44 50 1111.1TP53, RB1, MYC
28cytarabine44 50 1111.1MYC, TP53, RB1
29butyrate449.0RB1, MYC, TP53
30paclitaxel44 50 1111.0TP53, MYC, RB1
31nocodazole44 1110.0TP53, CHEK2
32ly294002449.0RB1, MYC, TP53
33actinomycin d449.0MYC, RB1, TP53
34paraffin449.0MYC, TP53, RB1
35hydroxyurea44 50 1110.9CHEK2, TP53, MYC
36gemcitabine44 50 1110.9CHEK2, MYC, TP53
37adpribose448.9RB1, TP53
38thymidine44 249.9TP53, MYC, RB1
39n acetylcysteine448.9TP53, CHEK2, MYC
40phosphatidylinositol448.8MYC, CHEK2, CDS1, RB1
41vegf448.6RB1, TP53, MYC
42aphidicolin448.5RB1, CHEK2, TP53, MYC
43adriamycin448.5MYC, TP53, RB1, CHEK2
44camptothecin44 60 1110.5CHEK2, TP53, RB1, MYC
45etoposide44 50 60 1111.5MYC, TP53, RB1, CHEK2
46doxorubicin44 50 1110.5RB1, CHEK2, MYC, TP53
47cisplatin44 50 60 1111.5CHEK2, TP53, MYC, RB1
48oligonucleotide448.5RB1, TP53, MYC, CHEK2
49retinoic acid44 249.4RB1, MYC, TP53, CHEK2
50serine448.3RB1, TP53, CHEK2, MYC

GO Terms for genes affiliated with Osteosarcoma, Somatic

About this section

Cellular components related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spindleGO:00058199.5RB1, MYC
2chromatinGO:00007858.9RB1, TP53
3PML bodyGO:00166058.6RB1, CHEK2, TP53
4nucleoplasmGO:00056548.0TP53, MYC, CHEK2, RB1

Biological processes related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1chromatin remodelingGO:00063389.6RB1, MYC
2neuron apoptotic processGO:00514029.4RB1, TP53
3negative regulation of fibroblast proliferationGO:00481479.4MYC, TP53
4cellular response to UVGO:00346449.3TP53, MYC
5cellular response to drugGO:00356909.3MYC, TP53
6replicative senescenceGO:00903999.3CHEK2, TP53
7Ras protein signal transductionGO:00072659.2TP53, RB1
8double-strand break repairGO:00063029.1TP53, CHEK2
9transforming growth factor beta receptor signaling pathwayGO:00071799.1MYC, TP53
10cell cycle arrestGO:00070508.9TP53, MYC, RB1
11Notch signaling pathwayGO:00072198.8MYC, TP53
12response to gamma radiationGO:00103328.8CHEK2, MYC, TP53
13cellular response to DNA damage stimulusGO:00069748.8CHEK2, MYC, TP53
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.6RB1, MYC, TP53
15positive regulation of transcription, DNA-templatedGO:00458938.3RB1, CHEK2, MYC, TP53

Molecular functions related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037008.7RB1, MYC, TP53
2ubiquitin protein ligase bindingGO:00316258.6RB1, CHEK2, TP53
3transcription factor bindingGO:00081348.6RB1, MYC, TP53
4identical protein bindingGO:00428028.3TP53, CHEK2, RB1

Sources for Osteosarcoma, Somatic

About this section
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet