KEGG   DISEASE: Giant cell tumor of boneHelp
Entry
H01470                      Disease                                

Name
Giant cell tumor of bone
Description
Giant-cell tumor of bone (GCTB) is a rare osteolytic tumor of the bone. Although classified as a benign tumor, GCTB is characterized by local aggressiveness and risk of local recurrence. Its name is derived from the numerous multinucleated giant cells found within the tumor, which are principally responsible for the extensive bone resorption that is characteristic of GCTB. However, the neoplastic components of GCTB are the spindle-like stromal cells, which produce RANKL that recruits monocytic osteoclast precursors from blood to the tumor, and stimulates differentiation into multinucleated giant cells. Recently, denosumab (RANKL inhibitor) has become a new treatment option for locally advanced GCTB.
Category
Skeletal diseases
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H01470  Giant cell tumor of bone
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except 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
      H01470  Giant cell tumor of bone
BRITE hierarchy
Gene
RANKL (overexpression) [HSA:8600] [KO:K05473]
H3F3A (mutation) [HSA:3020] [KO:K11253]
TP53 (mutation) [HSA:7157] [KO:K04451]
HRAS (mutation) [HSA:3265] [KO:K02833]
Drug
Denosumab [DR:D03684]
Comment
ICD-O-3.1: 9250/1 Giant cell tumor of bone, NOS
ICD-O-3.1: 9250/3 Giant cell tumor of bone, malignant
Other DBs
ICD-11: 2B51
ICD-10: D48.0
MeSH: D018212
Reference
PMID:24718514 (description, gene, drug)
  Authors
van der Heijden L, Dijkstra PD, van de Sande MA, Kroep JR, Nout RA, van Rijswijk CS, Bovee JV, Hogendoorn PC, Gelderblom H
  Title
The clinical approach toward giant cell tumor of bone.
  Journal
Oncologist 19:550-61 (2014)
DOI:10.1634/theoncologist.2013-0432
Reference
PMID:24363925 (description, gene, drug)
  Authors
Dufresne A, Derbel O, Cassier P, Vaz G, Decouvelaere AV, Blay JY
  Title
Giant-cell tumor of bone, anti-RANKL therapy.
  Journal
Bonekey Rep 1:149 (2012)
DOI:10.1038/bonekey.2012.149
Reference
PMID:23063845 (description, gene, drug)
  Authors
Cowan RW, Singh G
  Title
Giant cell tumor of bone: a basic science perspective.
  Journal
Bone 52:238-46 (2013)
DOI:10.1016/j.bone.2012.10.002
Reference
PMID:24788576 (description, gene, drug)
  Authors
Skubitz KM
  Title
Giant cell tumor of bone: current treatment options.
  Journal
Curr Treat Options Oncol 15:507-18 (2014)
DOI:10.1007/s11864-014-0289-1
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