Cancer Report

Cancer : Soft tissue tumors: Synovial sarcoma
Summary
Cancer Name Soft tissue tumors: Synovial sarcoma
Cancer Alias t(X;18)(p11.2;q11.2) in synovial sarcoma
Description t(X;18)(p11.2;q11.2) in synovial sarcoma G-banding - Courtesy Charles Bangs
 
Clinics and Pathology
Epidemiology rare soft tissue tumor, it accounts for up to 5 to 8% of soft tissue sarcomas , the fourth most common type of sarcoma after malignant fibrous histyocytoma, liposarcoma and rhabdomyosarcoma ; the most common pediatric non rhabdomyosarcomatous soft tissue cancer; average incidence : 2,75 per 100000 population based on a canandian study
Pathology well-defined, apparently unrelated to synovium (cf various rare localisations), it displays characteristics of concurrent epithelial and spindle cell proliferation; several types are recognized : two major ones:
  • biphasic, with epithelial and spindle cell components in various proportions and
  • monophasic fibrous type;
  • monophasic epithelial type is much less common ;
  • may also present as a poorly differentiated small cell neoplasm; diagnosis may be difficult especially for the two later.
    in general, very few problems in diagnosis in the biphasic type, may be not ascertained in some instances even after immunohistochemical examination
  • Treatment complete surgical excision of the primary tumor is actually the basis of the treatment; the optimal treatment approach is to be determined as post operative radiotherapy and adjuvant chemotherapy may permit limb preserving surgery and limit local recurrence and (micro) metastasis disease (lung+++)
    Prognosis
  • traditionnally has had a bad prognosis whateither the biphasic or monophasic type, poorer in the poorly differentiated small cell neoplasm.
  • EFS at 5 years : 45-60%; improved in a recent german study to 74% for children and adolescents; improvements in adults too
  • recents prognostic studies to identify risk groups and adequate treatment strategies indicate that synovialosarcomas might not be uniformely high grade tumors
  •  
    Related Genes
    Gene Symbol CDH1
    Description From COSMIC:
     
    Gene Symbol HRAS
    Description From COSMIC:
     
    Gene Symbol SS18L1
    Description From cancer gene census of CGP, OMIM
     
    Gene Symbol SS18
    Description From cancer gene census of CGP:
     
    Gene Symbol SSX1
    Description From cancer gene census of CGP
     
    Gene Symbol CTNNB1
    Description From COSMIC:
     
    Gene Symbol PDGFRA
    Description From COSMIC:
     
    Gene Symbol SSX2
    Description From cancer gene census of CGP:
     
    Gene Symbol SSX4
    Description From cancer gene census of CGP:
     
    Gene Symbol BRAF
    Description From COSMIC:
     
    Gene Symbol CDKN2A
    Description From COSMIC:
     
    Gene Symbol ERBB2
     
    Cytogenetics
    Cytogenetics Morphological a t(X;18)(p11.2;q11.2) is found in almost all synovial sarcomas (8O%) whatsoever the histologic type may be; t(X ;18)(p11.2 ;q11.2) seems to be specific : it is not found in other spindle cell sarcomas, and very rarely detected in other tumors as malignant fibrous histyocytoma or fibrosarcomas
    Cytogenetics Molecular detectable by metaphasic and/or interphasic dual colour fluorescent in situ cytogenetics; hybridization combining centomere X or 18 probes with respectively 18 or X whole chromosome painting or YAC probes both numerical and structural anomalies are found in 50% of cases, numerical anomalies only in 20% (+7,+8,+12,+21,-3, -11, -14, -22) and structural.anomalies only in 20% (involving chromosomes 1, 3, 11, 12, 15, 17 and 21: tumors may be hypodiploid, pseudodiploid, hyperdiploid or near tetraploid without a common pattern; DNA flow cytometry study revealed poorer prognosis for aneuploid tumors
     
    Bibliography
    Title Mediastinal synovial sarcoma with t(X;18).
    Authors Le Marc'hadour F, Pasquier B, Leroux D, Jacrot M.
    Citations Cancer Genet Cytogenet 1991; 55: 265-267.
    PubMedID 96246664
     
    Title "Dendrite development regulated by CREST, a calcium-regulated transcriptional activator."
    Authors "Aizawa, H.; Hu, S.-C.; Bobb, K.; Balakrishnan, K.; Ince, G.; Gurevich, I.; Cowan, M.; Ghosh, A."
    Citations "Science 303: 197-202, 2004."
    PubMedID 14716005
     
    Title SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma.
    Authors Kaxai A, Woodruff J, Healey JH, Brennan MF, Antonescu CR, and Ladanyi M.
    Citations N Engl J Med 1998;338: 153-160.
    PubMedID 96246664
     
    Title Localization of the synovial sarcoma t(X ;18)(p11.2 ;q11.2) breakpoint by fluorescent in situ hybridization.
    Authors Knight JC, Reeves BR, Keaney L, Monaco P, Lehrach H, Cooper CS.
    Citations Hum Mol Genet 1992; 1: 633-637.
    PubMedID 96246664
     
    Title Masked t(X;18)(p11:q11) in a biphasic synovial sarcoma revealed by FISH and RT-PCR.
    Authors Geurts van Kessel A, de Bruijn D, Hermsen L, Janssen I, dos Santos NR, Willems R, Makkus L, Schreuder H, Veth R.
    Citations Genes Chromosom Cancer 1998; 23: 198-201.
    PubMedID 96246664
     
    Title Synovial sarcoma. Identification of low and high risk groups.
    Authors Bergh P, Meis- Kindblom JM, Gherlinzoni F, Berlin O, Bacchini P, Bertoni F, Gunterberg B, Kindblom LG.
    Citations Cancer 1999; 85: 2596-2607.
    PubMedID 96246664
     
    Title Synovial sarcoma: report of a serie of 25 consecutive children from a single institution.
    Authors Ferrari A, Casanova M, Massimino M, Luksch R, Cefalo G, Lombardi F, Galimberti S, Riganti G, and Fossati-Bellani F.
    Citations Med Ped Oncol 1999; 32: 32-37.
    PubMedID 96246664
     
    Title Sublocalization of the synovial sarcoma-associated t(X;18) chromosomal breakpoint in Xp11.2 using cosmid cloning and fluorescence in situ hybridization.
    Authors de Leeuw B, Suijkerbuijk RF, Balemans M, Sinke RF, de Jong B, Molenaar WM, Meloni AM, Sandberg AA, Geraghty M, Hofker M, Ropers HH, Geurts van Kessel A.
    Citations Oncogene 1993; 8: 1457-1463.
    PubMedID 96246664
     
    Title Synovial sarcoma (review article).
    Authors Fisher C.
    Citations Ann Diag Pathol 1998; 2: 401-421.
    PubMedID 96246664
     
    Title Translocation (X;18) in a synovial sarcoma.
    Authors Griffin CA, Emanuel BS.
    Citations Cancer Genet Cytogenet 1987; 26: 181-183.
    PubMedID 96246664
     
    Title Translocation X ;18 in synovial sarcoma.
    Authors Turc-Carel C, Dal Cin P, Limon J, Li F, Sandberg AA .
    Citations Cancer Genet Cytogenet 1986; 23: 93.
    PubMedID 96246664
     
    Title The SYT-SSX1 variant of synovial sarcoma is associated with a high rate of tumor cell proliferation and poor clinical outcome.
    Authors Nilsson G, Skytting B, Xie Y, Brodin B, Perfekt R, Mandahl N, Lundeberg J, Uhlen M, andLarsson O.
    Citations Cancer Res 1999; 59: 3180-3184.
    PubMedID 96246664
     
    Title The t(X ;18)(p11.2 ;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome.
    Authors Shipley JM, Clark J, Crew AJ, Birdsall S, Rocques PJ, Chelly J, Monaco AP, Abe S, Gusterson BA, Cooper SS.
    Citations Oncogene 1994; 9: 1447-1453.
    PubMedID 96246664
     
    Title Translocations involving the X chromosome in solid tumors : presentation of two sarcomas with t(X ;18)(q13,p11).
    Authors Limon J, Dal Cin P, Sandberg AA.
    Citations Cancer Genet Cytogenet 1986; 23: 87-91.
    PubMedID 96246664
     
    Title A novel fusion gene, SYT-SSX4, in synovial sarcoma.
    Authors Skytting B, Nilsson G, Brodin B, Xie Y, Lundeberg J, Uhlen M, Larsson O.
    Citations J Nat Cancer Inst 1999; 91: 974-975.
    PubMedID 96246664
     
    Title A consistent chromosome translocation in synovial sarcoma.
    Authors Smith S, Reeves BR, Wong L, Fisher C.
    Citations Cancer Genet Cytogenet 1987; 26: 179-180.
    PubMedID 96246664
     
    Title Identification of novel genes, SYT and SSX, involved in the t(X ;18)(p11.2 ;q11.2) translocation found in human synovial sarcoma.
    Authors Clark J, Rocques PJ, Crew AJ, Gill S , Shipley JM, Chan AML, Gusterson BA, Cooper CS.
    Citations Nature genetics 1994; 7: 502-508.
    PubMedID 96246664
     
    Title Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18) (p11.2 ;q11.2)breakpoint.
    Authors de Leeuw B, Berger W, Sinke RF, Gilgenkrantz S, Geraghty MT, Valle D, Monaco AP, Lehrach H, Ropers HH, Geurts van Kessel A.
    Citations Genes Chromosom Cancer 1993; 6: 182-189.
    PubMedID 96246664
     
    Title Involvement of chromosome X in primary cytogenetic change in human neoplasia: nonrandom translocation in synovial sarcoma.
    Authors Turc-Carel C, Dal Cin P, Limon J, Rao U, Li PF, Corson JM, Zimmerman R, Parry DM, Cowan JM, Sandberg AA.
    Citations Proc Natl Acad Sci USA 1987; 84: 1981-1985.
    PubMedID 96246664
     
    Title Interphase fluorescence in situ hybridization and reverse transcription polymerase chain reaction as a diagnostic aid for synovial sarcoma.
    Authors Shipley JM, Crew AJ, Birdsall S, Gill S, Clark J, Fisher C, Kelsey A, Nojima T, Sonobe H, Cooper SS, Gusterson BA.
    Citations Am J Pathol 1996; 148(2): 559-567.
    PubMedID 96246664
     
    Title Chromosomes in the diagnosis of soft tissue tumors. I. Synovial sarcoma.
    Authors Dal Cin P, Rao U, Jani-Sait S, Karakousis C, and Sandberg AA.
    Citations Modern Pathol 1992; 5: 357-362.
    PubMedID 96246664
     
    Title Absence of SYT-SSX fusion products in soft tissue tumors other than synovial sarcoma.
    Authors van de Rijn M, Barr FG, Collins MH, Xiong QB, Fisher C.
    Citations Am J Clin Pathol 1999;112: 43-49.
    PubMedID 96246664
     
    Title Distinct Xp11.2 breakpoint H: relationship to histologic subtypes.
    Authors de Leeuw B, Suijkerbuijk RF, Olde Weghuis D, Meloni AM, Stenman G, Kindblom LG, Balemans M, van den Berg E, Molenaar WM, Sandberg AA, Geurts van Kessel A.
    Citations Cancer Genet Cytogenet 1994; 73: 89-94.
    PubMedID 96246664
     
    Title Cytogenetics of synovial sarcoma: presentation and review of the literature
    Authors Limon J, Mrozek K, Mandahl N, Nedoszytko B, Verhest A, Rys J, Niezabitowski A, Babinska M, Nosek H, Ochalek T, Kopacz A, Willen H, Rydholm A, Heim S, Mitelman F.
    Citations Genes Chromosom Cancer 1991; 3: 338-345.
    PubMedID 96246664
     
    Source and Citation
    Source Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Citation Pérot C . Soft tissue tumors: Synovial sarcoma. Atlas Genet Cytogenet Oncol Haematol. February 2000 .
    URL : http://AtlasGeneticsOncology.org/Tumors/SynovSarcID5044.html
    URL http://AtlasGeneticsOncology.org/Tumors/SynovSarcID5044.html