KEGG   DISEASE: Chondrosarcoma
Entry
H02902                      Disease                                
Name
Chondrosarcoma
Description
Chondrosarcomas constitute a heterogeneous group of primary bone cancers characterized by hyaline cartilaginous neoplastic tissue. Mutations in EXT1 have been identified in individuals with chondrosarcoma. EXT1 encodes an exostosin glycosyltransferase, and is required for the polymerization of heparan sulfate (HS) chains forming the hyaline cartilage.
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
     2B50  Chondrosarcoma, primary site
      H02902  Chondrosarcoma
Gene
EXT1 [HSA:2131] [KO:K02366]
Other DBs
ICD-11: 2B50
MeSH: D002813
OMIM: 215300
Reference
PMID:8981950
  Authors
Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, Hansen MF, Wells D
  Title
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.
  Journal
Am J Hum Genet 60:80-6 (1997)
Reference
PMID:25644707
  Authors
de Andrea CE, Zhu JF, Jin H, Bovee JV, Jones KB
  Title
Cell cycle deregulation and mosaic loss of Ext1 drive peripheral chondrosarcomagenesis in the mouse and reveal an intrinsic cilia deficiency.
  Journal
J Pathol 236:210-8 (2015)
DOI:10.1002/path.4510
Reference
PMID:30519452
  Authors
Chow WA
  Title
Chondrosarcoma: biology, genetics, and epigenetics.
  Journal
F1000Res 7:F1000 Faculty Rev-1826 (2018)
DOI:10.12688/f1000research.15953.1
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