Abstract
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.
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Selected References
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- Bridge J. A., Bridge R. S., Borek D. A., Shaffer B., Norris C. W. Translocation t(X;18) in orofacial synovial sarcoma. Cancer. 1988 Sep 1;62(5):935–937. doi: 10.1002/1097-0142(19880901)62:5<935::aid-cncr2820620514>3.0.co;2-e. [DOI] [PubMed] [Google Scholar]
- Bridge J. A., DeBoer J., Travis J., Johansson S. L., Elmberger G., Noel S. M., Neff J. R. 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] [Google Scholar]
- 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. doi: 10.1016/0165-4608(90)90187-f. [DOI] [PubMed] [Google Scholar]
- Clark J., Rocques P. J., Crew A. J., Gill S., Shipley J., Chan A. M., Gusterson B. A., Cooper C. S. 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. doi: 10.1038/ng0894-502. [DOI] [PubMed] [Google Scholar]
- Dal Cin P., Rao U., Jani-Sait S., Karakousis C., Sandberg A. A. Chromosomes in the diagnosis of soft tissue tumors. I. Synovial sarcoma. Mod Pathol. 1992 Jul;5(4):357–362. [PubMed] [Google Scholar]
- Emmerich P., Jauch A., Hofmann M. C., 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] [Google Scholar]
- Fletcher J. A., Kozakewich H. P., Hoffer F. A., Lage J. M., Weidner N., Tepper R., Pinkus G. S., Morton C. C., Corson J. M. Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med. 1991 Feb 14;324(7):436–442. doi: 10.1056/NEJM199102143240702. [DOI] [PubMed] [Google Scholar]
- Gilgenkrantz S., Chery M., Teboul M., Mujica P., Leotard B., Gregoire M. J., 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] [Google Scholar]
- 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. doi: 10.1111/j.1440-1827.1995.tb03446.x. [DOI] [PubMed] [Google Scholar]
- Griffin C. A., Emanuel B. S. Translocation (X;18) in a synovial sarcoma. Cancer Genet Cytogenet. 1987 May;26(1):181–183. doi: 10.1016/0165-4608(87)90148-8. [DOI] [PubMed] [Google Scholar]
- Hopman A. H., Moesker O., Smeets A. W., Pauwels R. P., Vooijs G. P., Ramaekers F. C. 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] [Google Scholar]
- Janz M., De Leeuw B., Weghuis D. O., Werner M., Nolte M., Geurts Van Kessel A., Nordheim A., Hipskind R. A. Interphase cytogenetic analysis of distinct X-chromosomal translocation breakpoints in synovial sarcoma. J Pathol. 1995 Apr;175(4):391–396. doi: 10.1002/path.1711750405. [DOI] [PubMed] [Google Scholar]
- Karn C. M., Socinski M. A., Fletcher J. A., Corson J. M., Craighead J. E. Cardiac synovial sarcoma with translocation (X;18) associated with asbestos exposure. Cancer. 1994 Jan 1;73(1):74–78. doi: 10.1002/1097-0142(19940101)73:1<74::aid-cncr2820730114>3.0.co;2-i. [DOI] [PubMed] [Google Scholar]
- 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. doi: 10.1016/0165-4608(91)90088-c. [DOI] [PubMed] [Google Scholar]
- Lee W., Han K., Harris C. P., Shim S., Kim S., Meisner L. F. 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] [Google Scholar]
- Limon J., Dal Cin P., Sandberg A. A. 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. doi: 10.1016/0165-4608(86)90152-4. [DOI] [PubMed] [Google Scholar]
- Limon J., Mrozek K., Mandahl N., Nedoszytko B., Verhest A., Rys J., Niezabitowski A., Babinska M., Nosek H., Ochalek T. Cytogenetics of synovial sarcoma: presentation of ten new cases and review of the literature. Genes Chromosomes Cancer. 1991 Sep;3(5):338–345. doi: 10.1002/gcc.2870030504. [DOI] [PubMed] [Google Scholar]
- 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. doi: 10.1016/0165-4608(89)90662-6. [DOI] [PubMed] [Google Scholar]
- 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. doi: 10.1016/S0344-0338(88)80053-0. [DOI] [PubMed] [Google Scholar]
- 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. doi: 10.1016/0165-4608(88)90202-6. [DOI] [PubMed] [Google Scholar]
- Matsumura K., Kallioniemi A., Kallioniemi O., Chen L., Smith H. S., Pinkel D., Gray J., Waldman F. M. 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] [Google Scholar]
- Miozzo M., Sozzi G., Cariani C. T., Di Palma S., Luksch R., Azzarelli A., Pierotti M. A., 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. doi: 10.1002/gcc.2870040215. [DOI] [PubMed] [Google Scholar]
- Molenaar W. M., DeJong B., Buist J., Idenburg V. J., Seruca R., Vos A. M., Hoekstra H. J. Chromosomal analysis and the classification of soft tissue sarcomas. Lab Invest. 1989 Feb;60(2):266–274. [PubMed] [Google Scholar]
- 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. doi: 10.1007/BF00193176. [DOI] [PubMed] [Google Scholar]
- 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. doi: 10.1016/0165-4608(88)90040-4. [DOI] [PubMed] [Google Scholar]
- Nojima T., Wang Y. S., 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. doi: 10.1111/j.1440-1827.1990.tb01590.x. [DOI] [PubMed] [Google Scholar]
- Pinkel D., Straume T., Gray J. W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986 May;83(9):2934–2938. doi: 10.1073/pnas.83.9.2934. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Salisbury J. R., Isaacson P. G. Synovial sarcoma: an immunohistochemical study. J Pathol. 1985 Sep;147(1):49–57. doi: 10.1002/path.1711470107. [DOI] [PubMed] [Google Scholar]
- Sauter G., Deng G., Moch H., Kerschmann R., Matsumura K., De Vries S., George T., Fuentes J., Carroll P., Mihatsch M. J. 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] [Google Scholar]
- Schutte B., Reynders M. M., Bosman F. T., Blijham G. H. Flow cytometric determination of DNA ploidy level in nuclei isolated from paraffin-embedded tissue. Cytometry. 1985 Jan;6(1):26–30. doi: 10.1002/cyto.990060106. [DOI] [PubMed] [Google Scholar]
- Sreekantaiah C., Ladanyi M., Rodriguez E., Chaganti R. S. 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] [Google Scholar]
- Taylor C., Patel K., Jones T., Kiely F., De Stavola B. L., 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. doi: 10.1038/bjc.1993.22. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Turc-Carel C., Dal Cin P., Limon J., Rao U., Li F. P., Corson J. M., Zimmerman R., Parry D. M., Cowan J. M., Sandberg A. A. 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. doi: 10.1073/pnas.84.7.1981. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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. doi: 10.1016/0165-4608(88)90111-2. [DOI] [PubMed] [Google Scholar]
- 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. doi: 10.1002/gcc.2870030112. [DOI] [PubMed] [Google Scholar]
- Wang-Wuu S., Soukup S. W., Lange B. J. Another synovial sarcoma with t(X;18) Cancer Genet Cytogenet. 1987 Nov;29(1):179–181. doi: 10.1016/0165-4608(87)90048-3. [DOI] [PubMed] [Google Scholar]