KEGG DISEASE: Osteosarcoma

DISEASE: Osteosarcoma

Entry

H00036                      Disease

Name

Osteosarcoma

Supergrp

Solid tumor [DS:H02421]

Description

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.

Category

Cancer

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant mesenchymal neoplasms
     2B51  Osteosarcoma, primary site
      H00036  Osteosarcoma
Cancer-associated carbohydrates [br08441.html]
H00036

Pathway

hsa04110

Cell cycle

hsa04218

Cellular senescence

Gene

MDM2 (amplification) [HSA:4193] [KO:K06643]
TSPAN31 (amplification) [HSA:6302] [KO:K17356]
MYC (amplification) [HSA:4609] [KO:K04377]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
CDKN2B [HSA:1030] [KO:K04685]
CHEK2 [HSA:11200] [KO:K06641]

Drug

Leucovorin calcium [DR:D01211]
Levoleucovorin calcium [DR:D04715]
Calcium levofolinate hydrate [DR:D11555]
Sodium levofolinate [DR:D11394]

Other DBs

ICD-11:

2B51

MeSH:

D012516

OMIM:

259500

Reference

PMID:11378650

Authors

Letson GD, Muro-Cacho CA.

Title

Genetic and molecular abnormalities in tumors of the bone and soft tissues.

Journal

Cancer Control 8:239-51 (2001)
DOI:10.1177/107327480100800304

Reference

PMID:11950895

Authors

Ragland BD, Bell WC, Lopez RR, Siegal GP

Title

Cytogenetics and molecular biology of osteosarcoma.

Journal

Lab Invest 82:365-73 (2002)
DOI:10.1038/labinvest.3780431

Reference

PMID:17263592

Authors

Kansara M, Thomas DM.

Title

Molecular pathogenesis of osteosarcoma.

Journal

DNA Cell Biol 26:1-18 (2007)
DOI:10.1089/dna.2006.0505

Reference

PMID:17241811

Authors

Papachristou DJ, Papavassiliou AG.

Title

Osteosarcoma and chondrosarcoma: new signaling pathways as targets for novel therapeutic interventions.

Journal

Int J Biochem Cell Biol 39:857-62 (2007)
DOI:10.1016/j.biocel.2006.12.003

Reference

PMID:8893761 (TSPAN31)

Authors

Noble-Topham SE, Burrow SR, Eppert K, Kandel RA, Meltzer PS, Bell RS, Andrulis IL

Title

SAS is amplified predominantly in surface osteosarcoma.

Journal

J Orthop Res 14:700-5 (1996)
DOI:10.1002/jor.1100140504

Reference

PMID:11746983 (CHEK2)

Authors

Miller CW, Ikezoe T, Krug U, Hofmann WK, Tavor S, Vegesna V, Tsukasaki K, Takeuchi S, Koeffler HP

Title

Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors.

Journal

Genes Chromosomes Cancer 33:17-21 (2002)
DOI:10.1002/gcc.1207

» Japanese version

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   OMIM (1)   
All databases (1)   

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