Logo of amjpatholAmerican Journal of Pathology For AuthorsAmerican Journal of Pathology SubscribeAmerican Journal of Pathology SearchAmerican Journal of Pathology Current IssueAmerican Journal of Pathology About the JournalAmerican Journal of Pathology
Am J Pathol. Feb 1996; 148(2): 601–609.
PMCID: PMC1861692

Chromosomal translocation t(X;18) in human synovial sarcomas analyzed by fluorescence in situ hybridization using paraffin-embedded tissue.


Synovial sarcoma is characterized cytogenetically by translocation t(X;18)(p11.2;q11.2). In this study, 28 cases that had been diagnosed initially as synovial sarcoma, including 2 fibrosarcomas, and 1 leiomyosarcoma were collected and examined for translocation t(X;18) on paraffin-embedded tissues by fluorescence in situ hybridization (FISH). Of the synovial sarcomas, 25 showed findings consistent with translocation t(X;18) with an additional copy signal for the total probe of X and 18 chromosomes. The other three cases, as well as the two fibrosarcomas and the leiomyosarcoma, did not show this translocation. One (case 26) of three negative cases was diagnosed finally as leiomyosarcoma and another (case 27) as malignant peripheral nerve sheath tumor from histological and immunohistochemical analysis. Thus, in all, 25 (96%) of 26 synovial sarcomas showed findings consistent with translocation t(X;18). In summary, translocation t(X;18) is a chromosomal aberration specific for synovial sarcoma. The fluorescence in situ hybridization technique can be used even on cells from paraffin-embedded tissues, and is a useful diagnostic aid for synovial sarcoma.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (2.1M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Salisbury JR, Isaacson PG. Synovial sarcoma: an immunohistochemical study. J Pathol. 1985 Sep;147(1):49–57. [PubMed]
  • Limon J, Dal Cin P, Sandberg AA. Translocations involving the X chromosome in solid tumors: presentation of two sarcomas with t(X;18)(q13;p11). Cancer Genet Cytogenet. 1986 Sep;23(1):87–91. [PubMed]
  • Griffin CA, Emanuel BS. Translocation (X;18) in a synovial sarcoma. Cancer Genet Cytogenet. 1987 May;26(1):181–183. [PubMed]
  • Wang-Wuu S, Soukup SW, Lange BJ. Another synovial sarcoma with t(X;18) Cancer Genet Cytogenet. 1987 Nov;29(1):179–181. [PubMed]
  • Turc-Carel C, Dal Cin P, Limon J, Rao U, Li FP, Corson JM, Zimmerman R, Parry DM, Cowan JM, Sandberg AA. Involvement of chromosome X in primary cytogenetic change in human neoplasia: nonrandom translocation in synovial sarcoma. Proc Natl Acad Sci U S A. 1987 Apr;84(7):1981–1985. [PMC free article] [PubMed]
  • Noguera R, Lopez-Ginés C, Gil R, Carda C, Pellin A, Llombart-Bosch A. Translocation (X;18) in a synovial sarcoma: a new case. Cancer Genet Cytogenet. 1988 Jul 15;33(2):311–312. [PubMed]
  • Bridge JA, Bridge RS, Borek DA, Shaffer B, Norris CW. Translocation t(X;18) in orofacial synovial sarcoma. Cancer. 1988 Sep 1;62(5):935–937. [PubMed]
  • Llombart-Bosch A, Carda C, Boix J, Pellin A, Peydro-Olaya A. Value of nude mice xenografts in the expression of cell heterogeneity of human sarcomas of bone and soft tissue. Pathol Res Pract. 1988 Nov;183(6):683–692. [PubMed]
  • Ueda T, Aozasa K, Tsujimoto M, Uchida A, Taniwaki M, Abe T. Translocation X;18 and insertion 15;11 in a case of synovial sarcoma. Cancer Genet Cytogenet. 1988 Jan;30(1):183–185. [PubMed]
  • Limon J, Mrózek K, Nedoszytko B, Babińska M, Jaśkiewicz J, Kopacz A, Zótowska A, Borowska-Lehman J. Cytogenetic findings in two synovial sarcomas. Cancer Genet Cytogenet. 1989 Apr;38(2):215–222. [PubMed]
  • Molenaar WM, DeJong B, Buist J, Idenburg VJ, Seruca R, Vos AM, Hoekstra HJ. Chromosomal analysis and the classification of soft tissue sarcomas. Lab Invest. 1989 Feb;60(2):266–274. [PubMed]
  • Calabrese G, Palka G, Di Virgilio C, Cianchetti E, Caracino A, Stuppia L, Angelucci D. Translocation t(X;18) in synovial sarcoma. AluI endonuclease digestion for breakpoint detection in two cases. Cancer Genet Cytogenet. 1990 Dec;50(2):277–279. [PubMed]
  • Nojima T, Wang YS, Abe S, Matsuno T, Yamawaki S, Nagashima K. Morphological and cytogenetic studies of a human synovial sarcoma xenotransplanted into nude mice. Acta Pathol Jpn. 1990 Jul;40(7):486–493. [PubMed]
  • Gilgenkrantz S, Chery M, Teboul M, Mujica P, Leotard B, Gregoire MJ, Boman F, Duprez A, Hanauer A. Sublocalisation of the X breakpoint in the translocation (X; 18)(p11.2; q11.2) primary change in synovial sarcomas. Oncogene. 1990 Jul;5(7):1063–1066. [PubMed]
  • Le Marc'hadour F, Pasquier B, Leroux D, Jacrot M. Mediastinal synovial sarcoma with t(X;18) Cancer Genet Cytogenet. 1991 Sep;55(2):265–267. [PubMed]
  • Verhest A, Limon J, Mrózek K, Nedoszytko B. Translocations t(X;7) and t(7;14) in a synovial sarcoma. Genes Chromosomes Cancer. 1991 Jan;3(1):71–73. [PubMed]
  • Limon J, Mrozek K, Mandahl N, Nedoszytko B, Verhest A, Rys J, Niezabitowski A, Babinska M, Nosek H, Ochalek T, et al. Cytogenetics of synovial sarcoma: presentation of ten new cases and review of the literature. Genes Chromosomes Cancer. 1991 Sep;3(5):338–345. [PubMed]
  • Fletcher JA, Kozakewich HP, Hoffer FA, Lage JM, Weidner N, Tepper R, Pinkus GS, Morton CC, Corson JM. Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med. 1991 Feb 14;324(7):436–442. [PubMed]
  • Miozzo M, Sozzi G, Cariani CT, Di Palma S, Luksch R, Azzarelli A, Pierotti MA, Della Porta G. A synovial sarcoma with t(X;18)(p11;q11) in a patient with Turner's syndrome. Genes Chromosomes Cancer. 1992 Mar;4(2):192–193. [PubMed]
  • Dal Cin P, Rao U, Jani-Sait S, Karakousis C, Sandberg AA. Chromosomes in the diagnosis of soft tissue tumors. I. Synovial sarcoma. Mod Pathol. 1992 Jul;5(4):357–362. [PubMed]
  • Karn CM, Socinski MA, Fletcher JA, Corson JM, Craighead JE. Cardiac synovial sarcoma with translocation (X;18) associated with asbestos exposure. Cancer. 1994 Jan 1;73(1):74–78. [PubMed]
  • Sreekantaiah C, Ladanyi M, Rodriguez E, Chaganti RS. Chromosomal aberrations in soft tissue tumors. Relevance to diagnosis, classification, and molecular mechanisms. Am J Pathol. 1994 Jun;144(6):1121–1134. [PMC free article] [PubMed]
  • Nagao K, Gomyo Y, Ito H, Yamamoto K, Yoshida H. A case report of synovial sarcoma with translocation (X;18). Application of fluorescence in situ hybridization to paraffin-embedded tissue. Virchows Arch. 1995;426(5):519–522. [PubMed]
  • Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986 May;83(9):2934–2938. [PMC free article] [PubMed]
  • Lee W, Han K, Harris CP, Shim S, Kim S, Meisner LF. Use of FISH to detect chromosomal translocations and deletions. Analysis of chromosome rearrangement in synovial sarcoma cells from paraffin-embedded specimens. Am J Pathol. 1993 Jul;143(1):15–19. [PMC free article] [PubMed]
  • Schutte B, Reynders MM, Bosman FT, Blijham GH. Flow cytometric determination of DNA ploidy level in nuclei isolated from paraffin-embedded tissue. Cytometry. 1985 Jan;6(1):26–30. [PubMed]
  • Mandahl N, Heim S, Arheden K, Rydholm A, Willén H, Mitelman F. Multiple karyotypic rearrangements, including t(X;18)(p11;q11), in a fibrosarcoma. Cancer Genet Cytogenet. 1988 Feb;30(2):323–327. [PubMed]
  • Gomyo Y, Andachi H, Nagao K, Ikeguchi M, Ito H. Interphase cytogenetics of gastric carcinoma: fluorescence in situ hybridization (FISH) applied to cells obtained from formalin-fixed paraffin-embedded tissues. Pathol Int. 1995 Mar;45(3):227–232. [PubMed]
  • Hopman AH, Moesker O, Smeets AW, Pauwels RP, Vooijs GP, Ramaekers FC. Numerical chromosome 1, 7, 9, and 11 aberrations in bladder cancer detected by in situ hybridization. Cancer Res. 1991 Jan 15;51(2):644–651. [PubMed]
  • Sauter G, Deng G, Moch H, Kerschmann R, Matsumura K, De Vries S, George T, Fuentes J, Carroll P, Mihatsch MJ, et al. Physical deletion of the p53 gene in bladder cancer. Detection by fluorescence in situ hybridization. Am J Pathol. 1994 Apr;144(4):756–766. [PMC free article] [PubMed]
  • Matsumura K, Kallioniemi A, Kallioniemi O, Chen L, Smith HS, Pinkel D, Gray J, Waldman FM. Deletion of chromosome 17p loci in breast cancer cells detected by fluorescence in situ hybridization. Cancer Res. 1992 Jun 15;52(12):3474–3477. [PubMed]
  • Emmerich P, Jauch A, Hofmann MC, Cremer T, Walt H. Interphase cytogenetics in paraffin embedded sections from human testicular germ cell tumor xenografts and in corresponding cultured cells. Lab Invest. 1989 Aug;61(2):235–242. [PubMed]
  • Bridge JA, DeBoer J, Travis J, Johansson SL, Elmberger G, Noel SM, Neff JR. Simultaneous interphase cytogenetic analysis and fluorescence immunophenotyping of dedifferentiated chondrosarcoma. Implications for histopathogenesis. Am J Pathol. 1994 Feb;144(2):215–220. [PMC free article] [PubMed]
  • Taylor C, Patel K, Jones T, Kiely F, De Stavola BL, Sheer D. Diagnosis of Ewing's sarcoma and peripheral neuroectodermal tumour based on the detection of t(11;22) using fluorescence in situ hybridisation. Br J Cancer. 1993 Jan;67(1):128–133. [PMC free article] [PubMed]
  • Janz M, De Leeuw B, Weghuis DO, Werner M, Nolte M, Geurts Van Kessel A, Nordheim A, Hipskind RA. Interphase cytogenetic analysis of distinct X-chromosomal translocation breakpoints in synovial sarcoma. J Pathol. 1995 Apr;175(4):391–396. [PubMed]
  • Clark J, Rocques PJ, Crew AJ, Gill S, Shipley J, Chan AM, Gusterson BA, Cooper CS. Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma. Nat Genet. 1994 Aug;7(4):502–508. [PubMed]

Articles from The American Journal of Pathology are provided here courtesy of American Society for Investigative Pathology


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...