Chondrosarcoma

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

EXT1, COL2A1, MTOR, FGFR3, IDH1, IDH2, NR4A3, EXT2, TAF15, PTH1R, TP53, VEGFA, IL1B, MMP1, BCL2, MMP13, CDKN2A, SOX9, MMP3, HIF1A, RUNX2, CDK4, MMP2, EWSR1, TNF, PIK3CG, MAPK1, HLCS, GLI1, H3P10

EXT1, COL2A1, MTOR, FGFR3, IDH1, IDH2, NR4A3, EXT2, TAF15, PTH1R, TP53, VEGFA, IL1B, MMP1, BCL2, MMP13, CDKN2A, SOX9, MMP3, HIF1A, RUNX2, CDK4, MMP2, EWSR1, TNF, PIK3CG, MAPK1, HLCS, GLI1, H3P10, ABCB6, VEGFC, CARD14, ACAN, CYCS, CNMD, PRNP, PRDX2, C4BPA, AHSA1, CASP3, EGFR, EDN1, CTNNB1, CCN2, POLDIP2, TNC, MAPK14, CRK, RNF19A, PTHLH, BDNF, STAT3, GRAP2, MMP9, PIK3CD, ABCB1, AREG, AIMP2, PIK3CA, PIK3CB, MET, TGFB1, PPARG, TEC, CXCR4, CD274, GLI2, MDM2, MYC, CCN6, SIRT1, PDCD5, PTGS2, CCL5, BMP2, SIX3, CHN1, TFG, RETN, PEG10, OSCP1, ICAM1, COMP, TIMP1, MIB1, IGF1, DKK1, MMP12, IL1A, RRAD, IL6, CXCL8, IL10, MIR10B, TERT, COX2, AKT1, ITGAV, ACVR2A, ITM2B, ADIPOQ, LDHA, CXCL12, MTCO2P12, SMUG1, PDPN, ETV5, PTCH1, PLAU, TNFSF10, CCND1, PTEN, TNFRSF11A, VHL, MIR30A, FN1, CDK2, SPHK1, MBD2, SOX4, CTSK, CDKN2B, XIAP, ADAMTS16, POSTN, CKAP4, EPHA1, FERMT2, ANGPT1, WIF1, SH2B2, KDM6B, LRCH1, SATB2, SRGAP2, AMBP, HEY1, BRD4, KDM1A, ANXA5, ANGPT2, ADAMTS3, TNFSF11, TP63, BECN1, RIPK1, ADAM15, APRT, CCN4, SOCS3, LATS1, ATG12, SLC9A3R1, AIRE, ADAMTS4, ADAMTS2, NCOA2, BAG3, APOBEC3B, TRAF4, RAB11FIP3, HS3ST1, HDAC6, EDIL3, NAMPT, TOB1, TLR6, TUBA1B, TUBB3, YAP1, AMACR, GDE1, AHSG, HBP1, MIR30B, MIR29B2, MIR29B1, MIR27B, MIR23B, MIR21, MIR206, MIR204, MIR20A, MIR192, MIR186, MIR17, MIR145, MIR100, BCAR4, MIR96, MIR302C, MIR452, MUC5B, CSAG2, COMMD3-BMI1, CD24, HOTAIR, ADAM8, MIR454, MIR624, MIR494, MIR507, MIR519D, MIR518B, MIR525, MIR497, MIR495, CSAG3, CTAG1A, CSAG1, KLK3, ELSPBP1, CIP2A, SLC12A9, SPHK2, BCOR, AGER, HDAC7, MMP28, ZBTB7A, LINC00328, ADIPOR1, AHCY, DCPS, DISC1, PARP1, ADIPOR2, CREBRF, GFM1, GPBAR1, CHDM, MUC16, NAPRT, ADAMTSL1, DNER, SESN2, TET1, ARHGAP24, MAP1LC3B, LBH, SLC2A10, CD276, PDCD1LG2, PPFIBP1, UVRAG, IFT88, MAGEA4, MID1, MFAP1, CCR7, COL1A2, MATN3, MAP2, SMAD1, IL11, LEP, KIT, JUNB, ITGB3, IRF5, INSM1, MIF, MKI67, KMT2A, CCR5, CLU, CLCN3, MMP7, CHEK1, MMP14, MTAP, MTHFR, CDS1, MYOG, NFATC2, CCN3, NRAS, SERPINE1, INHBA, COL4A5, PDGFA, EZH2, GFAP, GDNF, DCN, FGFR2, DRD3, FGFR1, EXT3, IHH, EFNA5, ENG, EPAS1, ESRRB, ESR1, ERBB2, GPC3, GLB1, DAXX, GLS, HDC, HGF, CTAG1B, CSPG4, HMGB1, FOXA1, PRMT1, HSP90AA1, HSPG2, VCAN, COL11A2, IFI16, IGFBP3, PDCD1, PDGFRB, ALX1, TGFB2, TMSB4X, TM7SF2, TLR1, TIMP3, TIMP2, TGFB3, BMPR2, SRC, TFPI, VPS51, PPP1R11, TCF7, TBX3, TAZ, BMP7, BMP6, TP53BP1, TP73, UCP2, UCP3, KDM6A, EPHB2, VCAM1, BMI1, BCL2L1, HEMC, TFEB, TUSC3, ATR, SLC25A16, HMGA2, CA11, SPP1, CDKN1C, PRKAB1, PTH, PTGER1, PROS2P, CD6, MAPK3, CD44, PRKAA2, CASP7, PRKAA1, CD68, PLK1, PLAGL1, CDC25A, CDKN1A, CCNA2, CCK, RUNX3, RAF1, RARG, RB1, RNASE3, RPE65, S100A1, S100B, CCL11, SDC2, SFRP5, SFTPC, SLC12A3, SMARCB1, SMO, ACTB

Drugs

Deforolimus, Fenretinide, [N-((2S,3R,3aS,3'R,4a'R,6S,6a'R,6b'S,7aR,12a'S,12b'S,Z)-3,6,11',12b'-tetramethyl- 2',3a,3',4,4',4a',5,5',6,6',6a',6b',7,7a,7',8',10',12',12a',12b'-icosahydro-1'H,3Hspiro[ furo[3,2-b]pyridine-2,9'-naphtho[2,1-a]azulene]-3'-yl)methanesulfonamide hydrochloride]

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A number sign (#) is used with this entry because of evidence that mutation, either constitutional or somatic, in 1 of the genes for hereditary multiple exostoses, EXT1 (608177) or EXT2 (608210), may be responsible for chondrosarcoma.

Inheritance

Schajowicz and Bessone (1967) described 3 brothers who, respectively, developed chondrosarcoma of the pelvic bone at 18 years, of the fibula and femur at 16 years, and of the femur at 17 years. Two brothers and a sister were living and well. Karyotypes were normal. See osteogenic sarcoma (259500).

Molecular Genetics

Hecht et al. (1995) studied a large multigenerational family with multiple exostoses and, in 1 member, a chondrosarcoma. The family demonstrated linkage of the disease to chromosome 11 markers. Loss of marker D11S903 was observed in constitutional DNA from all affected individuals and in the tumor sample. In further studies of constitutional and chondrosarcoma DNA from 6 unrelated individuals, 2 of whom had multiple exostoses, 1 tumor from an individual with multiple exostoses showed LOH for chromosome 8 markers in the region where the EXT1 gene maps (8q24.1), and a person with a sporadic chondrosarcoma was found to have a tumor-specific LOH and a homozygous deletion of chromosome 11 markers from the pericentric region, where the EXT2 gene maps. These findings suggested to Hecht et al. (1995) that EXT genes may be tumor suppressor genes and that the initiation of tumor development may follow a multistep model.

Somatic Mutations

Tarpey et al. (2013) reported comprehensive genomic analyses of 49 individuals with chondrosarcoma and identified hypermutability of the major cartilage collagen gene COL2A1 (120140), with insertions, deletions, and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, Tarpey et al. (2013) identified mutations in IDH1 (147700) or IDH2 (147650) (59%), TP53 (191170) (20%), the RB1 pathway (see 614041) (33%), and Sonic hedgehog signaling (600725) (18%).