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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2007, Number 2

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Rev Biomed 2007; 18 (2)

“Monophasic synovial sarcoma with intraneural component. Report of a case with immunohistochemical expression of the transcription factor TLE-1, and demonstration of t(X;18)(SYT-SSX1)”

Piña-Oviedo S, Moreno-Verduzco ER, Ortiz-Hidalgo C

Language: Spanish
References: 35
Page: 109-116
PDF size: 308.83 Kb.


ABSTRACT

Synovial sarcoma is a high-grade neoplasm, of uncertain histogenesis, which comprises 5-10% of all soft tissue sarcomas, and occurs, most frequently in the lower extremities. Intraneural location is extremely rare and it has only been reported in nine cases. The differential diagnosis of an intraneural SS is established with fibrosarcoma and malignant peripheral nerve sheath tumor. Positive immunostaining for cytokeratins and EMA is helpful but may be non-specific. Positive immunostaining for TLE-1 (Transducin-Like Enhancer of split 1) has great sensibility and specificity for the diagnosis of SS. Molecular analysis has a better specificity for diagnosis, because t(X;18)(SYT-SSX) translocation, may be found in ›80% of cases. We report herein, a case of a soft tissue monophasic SS, of a 20 years-old women, which presented a focal intraneural component, affecting the endoneurium of the cyatic nerve. The tumor expressed by immunohistochemistry TTL-1 and molecular analysis identified SYT-SSX1 translocation, allowing exclusion of other possible diagnosis. We review the concept related to the SS cellular origin. Pain, which is a significant clinical feature of SS, the gross relationship to nerve, the intraneural component present in some cases, the histological similarity with nerve sheath tumors, and the presence of calcospherites, unmyelinated fibers and endoneurial-like mucous, support the hypothesis of a possible intraneural origin.


REFERENCES

  1. Weiss SW, Goldblum JR. Malignant soft tissue tumors of uncertain type. En: Strauss M, editor. Enzinger and Weiss’s Soft Tissue Tumors. 4a ed. St. Louis, Missouri: Mosby; 2001. pp. 1483-571.

  2. Knox LC. Synovial sarcoma: report of three cases. Am J Cancer 1936; 28:461.

  3. Ichinose H, Powell L, Hoerner H, Derbes VJ, Byers JF. The potential histogenic relationship of the peripheral nerve to synovioma. Cancer Res 1979; 39:4270-3.

  4. Nagayama S, Katagiri T, Tsunoda T, Hosaka T, Nakashima Y, Araki N, et al. Genome-wide analysis of gene expression in synovial sarcomas using a cDNA microarray. Cancer Res 2002; 62:5859-66.

  5. Fisher C, de Bruijn DR, van Kessel AG. Synovial sarcoma. En: Fletcher DM, Unni KK, Mertens F, editores. World Health Organization Classification of Tumours. Pathology & Genetics. Tumours of Soft Tissues and Bones. Lyon: IARC Press; 2002. pp. 200-4.

  6. Pelmus M, Guillou L, Hostein I, Sierankowski G, Lussan C, Coindre JM. Monophasic fibrous and poorly differentiated synovial sarcoma: immunohistochemical reassessment of 60 t(X;18)(SYT-SSX)-positive cases. Am J Surg Pathol 2002; 26:1434-40.

  7. Olsen SH, Thomas DG, Lucas DR. Cluster analysis of immunohistochemical profiles in synovial sarcoma, malignant peripheral nerve sheath tumor, and Ewing sarcoma. Mod Pathol 2006; 19:659-68.

  8. Frisman DM. ImmunoQuery. An immunohistology query system. [Online Database]. Available from: http://www.immunoquery.com

  9. Sato H, Hasegawa T, Kanai Y, Tsutsumi Y, Osamura Y, Abe Y, et al. Expression of cadherins and their undercoat proteins (alpha-, beta-, and gamma-catenins and p120) and accumulation of beta-catenin with no gene mutations in synovial sarcoma. Virchows Arch 2001; 438:23-30.

  10. Terry J, Saito T, Subramanian S, Ruttan C, Antonescu CR, Goldblum JR, et al. TLE1 as a diagnostic immunohistochemical marker for synovial sarcoma emerging from gene expression profiling studies. Am J Surg Pathol 2007; 31:240-6.

  11. 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; 23:87-91.

  12. Lazar A, Abruzzo LV, Pollock RE, Lee S, Czerniak B. Molecular diagnosis of sarcomas: chromosomal translocations in sarcomas. Arch Pathol Lab Med 2006; 130:1199-207.

  13. de Leeuw B, Balemans M, Olde Weghuis D, Geurts van Kessel A. Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X: 18)(p11.2;q11.2)-positive synovial sarcomas. Hum Mol Genet 1995; 4:1097-9.

  14. Sreekantaiah C, Ladanyi M, Rodríguez E, Chaganti RS. Chromosomal aberrations in soft tissue tumors. Relevance to diagnosis, classification, and molecular mechanisms. Am J Pathol 1994; 144:1121-34.

  15. Tsuji S, Hisaoka M, Morimitsu Y, Hashimoto H, Shimajiri S, Komiya S, et al. Detection of SYT/SSX fusion transcripts in synovial sarcoma by reverse transcription-polymerase chain reaction using archival paraffin-embedded tissues. Am J Pathol 1998; 153: 1807-12.

  16. Cugola L, Pisa R. Synovial sarcoma: with radial nerve involvement. J Hand Surg [Br] 1985; 10:243-4.

  17. Rinehart GC, Mustoe TA, Weeks PM. Management of synovial sarcoma of the median nerve at the elbow. Plast Reconstr Surg 1989; 83:528-32.

  18. O’Connell JX, Browne WL, Gropper PT, Berean KW. Intraneural biphasic synovial sarcoma: an alternative “glandular” tumor of peripheral nerve. Mod Pathol 1996; 9:738-41.

  19. Spielmann A, Janzen DL, O’Connell JX, Munk PL. Intraneural synovial sarcoma. Skeletal Radiol 1997; 26: 677-81.

  20. Chesser TJ, Geraghty JM, Clarke AM. Intraneural synovial sarcoma of the median nerve. J Hand Surg [Br] 1999; 24:373-5.

  21. Zenmyo M, Komiya S, Hamada T, Hiraoka K, Nagata K, Tsuji S, et al. Intraneural monophasic synovial sarcoma: a case report. Spine 2001; 26(3):310-3.

  22. Lestou VS, O’Connell JX, Robichaud M, Salski C, Mathers J, Maguire J, et al. Cryptic t(X;18), ins(6;18), and SYT-SSX2 gene fusion in a case of intraneural monophasic synovial sarcoma. Cancer Genet Cytogenet 2002; 138:153-6.

  23. Chu PG, Benhattar J, Weiss LM, Meagher-Villemure K. Intraneural synovial sarcoma: two cases. Mod Pathol 2004; 17:258-63.

  24. Coindré JM. Grading of soft tissue sarcomas: review and update. Arch Pathol Lab Med 2006; 130:1448-53.

  25. Miettinen M, Virtanen I. Synovial sarcoma—a misnomer. Am J Pathol 1984; 117:18-25.

  26. Sandberg AA, Bridge JA. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. Synovial sarcoma. Cancer Genet Cytogenet 2002; 133: 1-23.

  27. Pfeifer JD, Hill DA, O’Sullivan MJ, Dehner LP. Diagnostic gold standard for soft tissue tumours: morphology or molecular genetics? Histopathology 2000; 37:485-500.

  28. Antonescu CR. The role of genetic testing in soft tissue sarcoma. Histopathology 2006; 48:13-21.

  29. O’Sullivan MJ, Kyriakos M, Zhu X, Wick MR, Swanson PE, Dehner LP, et al. Malignant peripheral nerve sheath tumors with t(X;18). A pathologic and molecular genetic study. Mod Pathol 2000; 13:1336-46.

  30. Tamborini E, Agus V, Perrone F, Papini D, Romano R, Pasini B, et al. Lack of SYT-SSX fusion transcripts in malignant peripheral nerve sheath tumors on RT-PCR analysis of 34 archival cases. Lab Invest 2002; 82: 609-18.

  31. Hiraga H, Nojima T, Abe S, Sawa H, Yamashiro K, Yamawaki S, et al. Diagnosis of synovial sarcoma with the reverse transcriptase-polymerase chain reaction: analyses of 84 soft tissue and bone tumors. Diagn Mol Pathol 1998; 7:102-10.

  32. Lasota J, Jasinski M, Debiec-Rychter M, Szadowska A, Limon J, Miettinen M. Detection of the SYT-SSX fusion transcripts in formaldehyde-fixed, paraffinembedded tissue: a reverse transcription polymerase chain reaction amplification assay useful in the diagnosis of synovial sarcoma. Mod Pathol 1998; 11:626-33.

  33. dos Santos NR, de Bruijn DR, van Kessel AG. Molecular mechanisms underlying human synovial sarcoma development. Genes Chromosomes Cancer 2001; 30:1-14.

  34. Saito T, Nagai M, Ladanyi M. SYT-SSX1 and SYT-SSX2 interfere with repression of E-cadherin by snail and slug: a potential mechanism for aberrant mesenchymal to epithelial transition in human synovial sarcoma. Cancer Res 2006; 66:6919-27.

  35. Ladanyi M, Antonescu CR, Leung DH, Woodruff JM, Kawai A, Healey JH, et al. Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients. Cancer Res 2002; 62:135-40.




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