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KEGG   DISEASE: Giant cell tumor of bone
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
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
      H01470  Giant cell tumor of bone
Pathway
hsa04380  Osteoclast differentiation
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]
Other DBs
ICD-11: 2B51
ICD-10: D48.0
MeSH: D018212
Reference
  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
  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
  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
  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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