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Synovial sarcoma showing loss of a green signal in SS18 fluorescence in situ hybridization: a clinicopathological and molecular study of 12 cases

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Abstract

The phenomenon of losing a green signal in synovial sarcoma (SS) using the SS18 break-apart probe by fluorescence in situ hybridization (FISH) has been poorly described. In this study, 12 SS with missing a green signal were identified. This series included 7 males and 5 females, aged 17 to 69 years (median, 38.5 years). The tumors involved the extremities (50%), mediastinum (16.7%), hypopharynx (8.3%), neck (8.3%), thyroid (8.3%), and retroperitoneum (8.3%). The tumors were classified as monophasic SS (58.3%) and poorly differentiated SS (41.7%). An anaplastic SS showing features of pleomorphic sarcoma was observed. Immunostaining for TLE1, BCL2, CD99, epithelial membrane antigen, cytokeratin (AE1/AE3), cytokeratin 7, S-100 protein, and CD34 was consistent with typical SS. In FISH, all the tumors showed the pattern of 1 to 3 fused signal(s) with 1 to 3 red signal(s), without corresponding a green signal. The fusion transcripts included SS18-SSX1 (8/10, 80%) and SS18-SSX2 (2/10, 20%) fusions. Median and 5-year overall survival were 19.1 months and 43.6%, respectively. In conclusion, we reported a series of SS losing a green signal in the SS18 FISH assay. We propose that this variant FISH pattern should be interpreted as a peculiar unbalanced rearrangement of the SS18 gene and subsequent SS18-SSX fusion test should be recommended. The cases in this study seem to show some unusual clinicopathological features, including unusual locations, higher proportions of poorly differentiated SS, and aggressive clinical course. However, whether this variant FISH pattern is associated with peculiar clinicopathologic features awaits larger series.

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Author notes

  1. Dan Jiang and Ran Peng contributed equally to this work.

Authors and Affiliations

  1. Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, Chengdu, Sichuan, 610041, China

    Dan Jiang, Ran Peng, Min Chen, Ting Lan, Huijiao Chen, Zhang Zhang, Wenyi Jing, Lili Jiang & Hongying Zhang

  2. Institute of Pathology and Southwest Cancer Center, Southwest Hospital and Key Laboratory of Tumor Immunopathology of the Ministry of Education of China, Third Military Medical University, Chongqing, 400038, China

    Xiaochu Yan

  3. Department of Pathology, The Third People’s Hospital of Zigong City, Zigong, 643020, China

    Limei Ma

Authors
  1. Dan Jiang
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  2. Ran Peng
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  3. Xiaochu Yan
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  4. Min Chen
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  9. Lili Jiang
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  11. Hongying Zhang
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Contributions

D.J. collected and analyzed the data, drafted the manuscript, and helped to perform the histopathological examinations. R.P. performed the RT-PCR and sequence alignment studies, and helped to collect the data and perform the histopathological examinations. R.P. contributed equally to this work with D.J., and is the co-first author for this paper. X.Y., H.C., Z.Z., L.J., and L.M. performed the histopathological examinations. M.C., T.L. and W.J. carried out the FISH and immunohistochemical studies. H.Z. conceived of the study, participated in its design and coordination, performed histopathological examinations and FISH evaluation, and revised the manuscript. All authors have read and approved the manuscript.

Corresponding author

Correspondence to Hongying Zhang.

Ethics declarations

Institutional Review Board approval was obtained from the Ethics Committee of the West China Hospital.

Funding sources

This work was supported by the National Natural Science Foundation of China (Nos. 81472510, 81272944, and 81401990).

Conflict of interest

The authors declare that they have no conflict of interest.

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Jiang, D., Peng, R., Yan, X. et al. Synovial sarcoma showing loss of a green signal in SS18 fluorescence in situ hybridization: a clinicopathological and molecular study of 12 cases. Virchows Arch 471, 799–807 (2017). https://doi.org/10.1007/s00428-017-2211-2

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  • DOI: https://doi.org/10.1007/s00428-017-2211-2

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