General Information of Disease (ID: DISEZJS7)

Disease Name Synovial sarcoma
Synonyms sarcoma, synovial; SS; sarcoma, synovial, malignant; Synovialosarcoma; synovial sarcoma; synovial sarcoma (disease)
Disease Class 2B5A: Synovial sarcoma
Definition
Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).|Synovial sarcomas are not necessarily of synovial origin.
Disease Hierarchy
DISSN8XB: Soft tissue sarcoma
DISEZJS7: Synovial sarcoma
ICD Code
ICD-11
ICD-11: 2B5A
ICD-9
ICD-9: 171
Expand ICD-11
'XH9B22
Expand ICD-9
171
Disease Identifiers
MONDO ID
MONDO_0010434
MESH ID
D013584
UMLS CUI
C0039101
OMIM ID
300813
MedGen ID
21050
HPO ID
HP:0012570
Orphanet ID
3273
SNOMED CT ID
302851001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Tazemetostat DMWP1BH Approved Small molecular drug [1]
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This Disease is Treated as An Indication in 6 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AL3818 DM3WP0N Phase 3 NA [1]
ADP-A2M4 DMRYH3M Phase 2 NA [2]
GSK3377794 DMQ4RWW Phase 2 NA [1]
Anti-NY-ESO-1 CAR-T cells DM26VCZ Phase 1/2 CAR T Cell Therapy [3]
NY-ESO-TCR DMS0L6J Phase 1/2 NA [4]
OTSA-101-DTPA-90Y DMWIEC1 Phase 1 Antibody [5]
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⏷ Show the Full List of 6 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 11 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BRD9 TTR7L5Y Strong Biomarker [6]
CD38 TTPURFN Strong Biomarker [7]
CSK TTX6F0Q Strong Altered Expression [8]
CTSS TTUMQVO Strong Altered Expression [9]
FZD10 TTP1S2F Strong Biomarker [10]
HBA2 TTQO71U Strong Genetic Variation [11]
MAGEA1 TT63M7Q Strong Biomarker [12]
MAGEA4 TT9EQUY Strong Biomarker [12]
OAT TTTSCQ2 Strong Genetic Variation [13]
PRAME TTPH7T0 Strong Altered Expression [14]
SHCBP1 TTZ9WGL Strong Biomarker [15]
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⏷ Show the Full List of 11 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC3A1 DTBCKVM Strong Biomarker [16]
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This Disease Is Related to 50 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCNB3 OT5V72D3 Limited Biomarker [17]
SMARCB1 OT2LP7LJ Limited Altered Expression [18]
SSX4 OT0E4H2D Disputed Genetic Variation [19]
ANKRD36B OT3MW415 moderate Biomarker [20]
CRABP1 OTISDG5X moderate Altered Expression [21]
EWSR1 OT7SRHV3 moderate Genetic Variation [22]
AQP8 OT99JKME Strong Biomarker [23]
ATF2 OTNIZPEA Strong Biomarker [24]
BANF1 OTP7Z38L Strong Biomarker [25]
BCOR OTG013AX Strong Biomarker [26]
BIK OTTH1T3D Strong Posttranslational Modification [27]
CD99 OTPUZ5DE Strong Biomarker [28]
DYM OTQ670WI Strong Biomarker [29]
ELF3 OTUTLEQO Strong Altered Expression [30]
FRMPD2 OT8OM5MA Strong Altered Expression [31]
FXYD5 OT81DIOD Strong Altered Expression [32]
GAB1 OTQKE6V4 Strong Posttranslational Modification [33]
GDF6 OTERXWJU Strong Biomarker [34]
GINS1 OTVQZMMQ Strong Biomarker [35]
HBG1 OTVL4NSU Strong Biomarker [36]
HBG2 OT4J48JJ Strong Genetic Variation [37]
HEATR3 OTB52FZ4 Strong Genetic Variation [38]
INHA OT7HWCO3 Strong Genetic Variation [39]
KCNH4 OTHJ8WTU Strong Biomarker [40]
KCNH8 OT3I5FLB Strong Biomarker [40]
KDM2B OTDMCVW7 Strong Biomarker [41]
LBH OT87AT1X Strong Biomarker [42]
MED1 OTOO24C4 Strong Altered Expression [43]
NUPR1 OT4FU8C0 Strong Altered Expression [44]
PAX3 OTN5PJZV Strong Genetic Variation [22]
PAX7 OTDMQRPO Strong Altered Expression [45]
PDZD4 OTEBJTOU Strong Altered Expression [31]
PIAS4 OTB7SVMZ Strong Altered Expression [46]
PMCH OT3D9SA4 Strong Altered Expression [47]
PPRC1 OT6GB3WR Strong Altered Expression [48]
PRM3 OT6574BF Strong Biomarker [49]
PUF60 OTG90DYF Strong Biomarker [50]
RBBP8 OTRHJ3GI Strong Altered Expression [44]
REPS2 OTSE3TRP Strong Genetic Variation [51]
RPL34 OT0U9VMQ Strong Genetic Variation [52]
SALL2 OTQWI68Q Strong Biomarker [53]
SNAP23 OTY2MYBX Strong Biomarker [54]
SOX10 OTF25ULQ Strong Biomarker [55]
SS18L1 OT9ZEGV7 Strong Genetic Variation [56]
SS18L2 OTBSOW3J Strong Biomarker [57]
SSX3 OTGJV5UZ Strong Biomarker [58]
SYCP1 OTWFV4KA Strong Genetic Variation [59]
TBC1D25 OT11OABF Strong Biomarker [60]
TSPYL2 OTGGW2EF Strong Genetic Variation [61]
RAD23B OT0PGOG3 Definitive Genetic Variation [62]
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⏷ Show the Full List of 50 DOT(s)

References

1 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2 Clinical pipeline report, company report or official report of Adaptimmune.
3 ClinicalTrials.gov (NCT03638206) Autologous CAR-T/TCR-T Cell Immunotherapy for Malignancies
4 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
5 ClinicalTrials.gov (NCT01469975) First in Man Study Investigating the Biodistribution, the Safety and Optimal Recommended Dose of a New Radiolabelled Monoclonal Antibody Targeting Frizzled Homolog 10 (SYNFRIZZ). U.S. National Institutes of Health.
6 Targeted degradation of BRD9 reverses oncogenic gene expression in synovial sarcoma.Elife. 2018 Nov 15;7:e41305. doi: 10.7554/eLife.41305.
7 TLE1 Expression in Malignant Rhabdoid Tumor and Atypical Teratoid/Rhabdoid Tumor.Pediatr Dev Pathol. 2018 Nov-Dec;21(6):522-527. doi: 10.1177/1093526618761720. Epub 2018 Feb 28.
8 SRC signaling is crucial in the growth of synovial sarcoma cells.Cancer Res. 2013 Apr 15;73(8):2518-28. doi: 10.1158/0008-5472.CAN-12-3023. Epub 2013 Apr 11.
9 Longitudinal analysis of tear cathepsin S activity levels in male non-obese diabetic mice suggests its potential as an early stage biomarker of Sjgren's Syndrome.Biomarkers. 2019 Feb;24(1):91-102. doi: 10.1080/1354750X.2018.1514656. Epub 2018 Sep 12.
10 A first-in-human study investigating biodistribution, safety and recommended dose of a new radiolabeled MAb targeting FZD10 in metastatic synovial sarcoma patients. BMC Cancer. 2018 Jun 8;18(1):646.
11 Influence of alpha thalassaemia on the retinopathy of homozygous sickle cell disease.Br J Ophthalmol. 1993 Feb;77(2):89-90. doi: 10.1136/bjo.77.2.89.
12 Cancer-testis antigen expression in synovial sarcoma: NY-ESO-1, PRAME, MAGEA4, and MAGEA1.Hum Pathol. 2017 Mar;61:130-139. doi: 10.1016/j.humpath.2016.12.006. Epub 2016 Dec 16.
13 A synovial sarcoma with a complex t(X;18;5;4) and a break in the ornithine aminotransferase (OAT)L1 cluster on Xp11.2.Genes Chromosomes Cancer. 1994 Apr;9(4):288-91. doi: 10.1002/gcc.2870090409.
14 PRAME and HLA Class I expression patterns make synovial sarcoma a suitable target for PRAME specific T-cell receptor gene therapy.Oncoimmunology. 2018 Sep 11;7(12):e1507600. doi: 10.1080/2162402X.2018.1507600. eCollection 2018.
15 SHCBP1 promotes synovial sarcoma cell metastasis via targeting TGF-1/Smad signaling pathway and is associated with poor prognosis.J Exp Clin Cancer Res. 2017 Oct 11;36(1):141. doi: 10.1186/s13046-017-0616-z.
16 ATR Is a Therapeutic Target in Synovial Sarcoma.Cancer Res. 2017 Dec 15;77(24):7014-7026. doi: 10.1158/0008-5472.CAN-17-2056. Epub 2017 Oct 16.
17 BCOR-CCNB3-positive soft tissue sarcoma with round-cell and spindle-cell histology: a series of four cases highlighting the pitfall of mimicking poorly differentiated synovial sarcoma.Histopathology. 2016 Nov;69(5):792-801. doi: 10.1111/his.13001. Epub 2016 Jul 15.
18 SMARCB1-deficient Tumors of Childhood: A Practical Guide.Pediatr Dev Pathol. 2018 Jan-Feb;21(1):6-28. doi: 10.1177/1093526617749671. Epub 2017 Dec 27.
19 Clinical application of RNA sequencing in sarcoma diagnosis: An institutional experience.Medicine (Baltimore). 2019 Jun;98(25):e16031. doi: 10.1097/MD.0000000000016031.
20 Immunohistochemical expression and clinicopathological assessment of the cancer testis antigens NY-ESO-1 and MAGE-A4 in high-grade soft-tissue sarcoma.Oncol Lett. 2019 Apr;17(4):3937-3943. doi: 10.3892/ol.2019.10044. Epub 2019 Feb 14.
21 CRABP1 provides high malignancy of transformed mesenchymal cells and contributes to the pathogenesis of mesenchymal and neuroendocrine tumors.Cell Cycle. 2014;13(10):1530-9. doi: 10.4161/cc.28475. Epub 2014 Mar 12.
22 Antitumor profile of the PI3K inhibitor ZSTK474 in human sarcoma cell lines.Oncotarget. 2018 Oct 12;9(80):35141-35161. doi: 10.18632/oncotarget.26216. eCollection 2018 Oct 12.
23 Antibodies to aquaporins are frequent in patients with primary Sjgren's syndrome.Rheumatology (Oxford). 2017 Dec 1;56(12):2114-2122. doi: 10.1093/rheumatology/kex328.
24 Activating transcription factor 2 in mesenchymal tumors.Hum Pathol. 2014 Feb;45(2):276-84. doi: 10.1016/j.humpath.2013.09.003. Epub 2013 Nov 27.
25 Epigenetic ConFUSION: SS18-SSX Fusion Rewires BAF Complex to Activate Bivalent Genes in Synovial Sarcoma.Cancer Cell. 2018 Jun 11;33(6):951-953. doi: 10.1016/j.ccell.2018.05.011.
26 New fusion sarcomas: histopathology and clinical significance of selected entities.Hum Pathol. 2019 Apr;86:57-65. doi: 10.1016/j.humpath.2018.12.006. Epub 2019 Jan 8.
27 HDAC and Proteasome Inhibitors Synergize to Activate Pro-Apoptotic Factors in Synovial Sarcoma.PLoS One. 2017 Jan 5;12(1):e0169407. doi: 10.1371/journal.pone.0169407. eCollection 2017.
28 Expression of TLE-1 and CD99 in Carcinoma: Pitfalls in Diagnosis of Synovial Sarcoma.Appl Immunohistochem Mol Morphol. 2018 Jul;26(6):368-373. doi: 10.1097/PAI.0000000000000436.
29 Influence of TGF-1 expression in endothelial cells on smooth muscle cell phenotypes and MMP production under shear stress in a co-culture model.Cytotechnology. 2019 Apr;71(2):489-496. doi: 10.1007/s10616-018-0268-7. Epub 2019 Feb 1.
30 Expression of claudin7 is tightly associated with epithelial structures in synovial sarcomas and regulated by an Ets family transcription factor, ELF3.J Biol Chem. 2006 Dec 15;281(50):38941-50. doi: 10.1074/jbc.M608389200. Epub 2006 Oct 23.
31 Identification of PDZK4, a novel human gene with PDZ domains, that is upregulated in synovial sarcomas.Oncogene. 2004 Jul 15;23(32):5551-7. doi: 10.1038/sj.onc.1207710.
32 Dysadherin expression as a significant prognostic factor and as a determinant of histologic features in synovial sarcoma: special reference to its inverse relationship with E-cadherin expression.Am J Surg Pathol. 2007 Jan;31(1):85-94. doi: 10.1097/01.pas.0000213413.33558.85.
33 Adaptor molecule Crk is required for sustained phosphorylation of Grb2-associated binder 1 and hepatocyte growth factor-induced cell motility of human synovial sarcoma cell lines.Mol Cancer Res. 2006 Jul;4(7):499-510. doi: 10.1158/1541-7786.MCR-05-0141.
34 KISS1 over-expression suppresses metastasis of pancreatic adenocarcinoma in a xenograft mouse model.Clin Exp Metastasis. 2010 Dec;27(8):591-600. doi: 10.1007/s10585-010-9349-5. Epub 2010 Sep 16.
35 Anlotinib inhibits synovial sarcoma by targeting GINS1: a novel downstream target oncogene in progression of synovial sarcoma.Clin Transl Oncol. 2019 Dec;21(12):1624-1633. doi: 10.1007/s12094-019-02090-2. Epub 2019 Apr 8.
36 Sequence variations in the 5' flanking and IVS-II regions of the G gamma- and A gamma-globin genes of beta S chromosomes with five different haplotypes.Blood. 1991 Jun 1;77(11):2488-96.
37 Certain mutations observed in the 5' sequences of the G gamma- and A gamma-globin genes of beta S chromosomes are specific for chromosomes with major haplotypes.Acta Haematol. 1991;85(2):79-87. doi: 10.1159/000204862.
38 Glycogen synthase kinase 3 as a potential therapeutic target in synovial sarcoma and fibrosarcoma.Cancer Sci. 2020 Feb;111(2):429-440. doi: 10.1111/cas.14271. Epub 2019 Dec 30.
39 Inhibin- and synaptophysin immunoreactivity in synovial sarcoma with granular cell features.Hum Pathol. 2012 Jun;43(6):850-7. doi: 10.1016/j.humpath.2011.07.012. Epub 2011 Nov 4.
40 Refined mapping of the human Ets-related gene Elk-1 to Xp11.2-p11.4, distal to the OATL1 region.Hum Genet. 1994 Oct;94(4):442-4. doi: 10.1007/BF00201610.
41 The SS18-SSX Oncoprotein Hijacks KDM2B-PRC1.1 to Drive Synovial Sarcoma.Cancer Cell. 2018 Mar 12;33(3):527-541.e8. doi: 10.1016/j.ccell.2018.01.018. Epub 2018 Mar 1.
42 Histone deacetylase inhibitors vorinostat and panobinostat induce G1 cell cycle arrest and apoptosis in multidrug resistant sarcoma cell lines.Oncotarget. 2017 Aug 24;8(44):77254-77267. doi: 10.18632/oncotarget.20460. eCollection 2017 Sep 29.
43 Targeted disruption of the synovial sarcoma-associated SS18 gene causes early embryonic lethality and affects PPARBP expression.Hum Mol Genet. 2006 Oct 1;15(19):2936-44. doi: 10.1093/hmg/ddl235. Epub 2006 Aug 22.
44 The SYT-SSX fusion protein down-regulates the cell proliferation regulator COM1 in t(x;18) synovial sarcoma.Mol Cell Biol. 2007 Feb;27(4):1348-55. doi: 10.1128/MCB.00658-06. Epub 2006 Nov 13.
45 PAX7 immunohistochemical evaluation of Ewing sarcoma and other small round cell tumours.Histopathology. 2018 Oct;73(4):645-652. doi: 10.1111/his.13689. Epub 2018 Aug 2.
46 SYT-SSX1 (synovial sarcoma translocated) regulates PIASy ligase activity to cause overexpression of NCOA3 protein.J Biol Chem. 2011 May 27;286(21):18623-32. doi: 10.1074/jbc.M110.176693. Epub 2011 Mar 24.
47 A comparison of sickle cell syndromes in northern Greece.Br J Haematol. 1991 Mar;77(3):386-91. doi: 10.1111/j.1365-2141.1991.tb08589.x.
48 Prognostic implications of polycomb proteins ezh2, suz12, and eed1 and histone modification by H3K27me3 in sarcoma.BMC Cancer. 2018 Feb 7;18(1):158. doi: 10.1186/s12885-018-4066-6.
49 Amplification of the c-myc proto-oncogene in soft tissue sarcomas.Oncology. 1994 Jan-Feb;51(1):13-7. doi: 10.1159/000227302.
50 The prevalence and clinical significance of anti-PUF60 antibodies in patients with idiopathic inflammatory myopathy.Clin Rheumatol. 2018 Jun;37(6):1573-1580. doi: 10.1007/s10067-018-4031-4. Epub 2018 Mar 15.
51 Recurrent and novel SS18-SSX fusion transcripts in synovial sarcoma: description of three new cases.Tumour Biol. 2012 Dec;33(6):2245-53. doi: 10.1007/s13277-012-0486-0. Epub 2012 Sep 14.
52 The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10.Oncogene. 2001 May 31;20(25):3281-9. doi: 10.1038/sj.onc.1204419.
53 Developmental SALL2 transcription factor: a new player in cancer.Carcinogenesis. 2017 Jul 1;38(7):680-690. doi: 10.1093/carcin/bgx036.
54 SNAP-23 and VAMP-3 contribute to the release of IL-6 and TNF from a human synovial sarcoma cell line.FEBS J. 2014 Feb;281(3):750-65. doi: 10.1111/febs.12620. Epub 2013 Dec 13.
55 The Roles of Sox Family Genes in Sarcoma.Curr Drug Targets. 2016;17(15):1761-1772. doi: 10.2174/1389450117666160502145311.
56 Novel SS18-NEDD4 gene fusion in a primary renal synovial sarcoma.Genes Chromosomes Cancer. 2020 Mar;59(3):203-208. doi: 10.1002/gcc.22814. Epub 2019 Oct 21.
57 Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci.Cytogenet Genome Res. 2006;112(3-4):222-6. doi: 10.1159/000089874.
58 A novel Krppel-associated box containing the SSX gene (SSX3) on the human X chromosome is not implicated in t(X;18)-positive synovial sarcomas.Cytogenet Cell Genet. 1996;73(3):179-83. doi: 10.1159/000134334.
59 Reactivity of germ cell maturation stage-specific markers in spermatocytic seminoma: diagnostic and etiological implications.Lab Invest. 2001 Jul;81(7):919-28. doi: 10.1038/labinvest.3780302.
60 Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint.Genes Chromosomes Cancer. 1993 Mar;6(3):182-9. doi: 10.1002/gcc.2870060309.
61 Gene expression profiling and immune cell-type deconvolution highlight robust disease progression and survival markers in multiple cohorts of CTCL patients.Oncoimmunology. 2018 May 31;7(8):e1467856. doi: 10.1080/2162402X.2018.1467856. eCollection 2018.
62 Contribution of STAT3 and RAD23B in Primary Szary Cells to Histone Deacetylase Inhibitor FK228 Resistance.J Invest Dermatol. 2019 Sep;139(9):1975-1984.e2. doi: 10.1016/j.jid.2019.03.1130. Epub 2019 Mar 22.