A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis
The primary and metastatic gastrointestinal synovial sarcoma is rare with a wide differential diagnosis. It usually expresses cytokeratins EMA, BCL2 with an occasional CD99, and S100 positivity but not desmin. We present a case of metastatic synovial sarcoma with unusual immunophenotype causing diag...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2012/786083 |
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| author | Yi-Che Changchien Uhrin Katalin János Fillinger László Fónyad Gergő Papp Ferenc Salamon Zoltán Sápi |
| author_facet | Yi-Che Changchien Uhrin Katalin János Fillinger László Fónyad Gergő Papp Ferenc Salamon Zoltán Sápi |
| author_sort | Yi-Che Changchien |
| collection | DOAJ |
| description | The primary and metastatic gastrointestinal synovial sarcoma is rare with a wide differential diagnosis. It usually expresses cytokeratins EMA, BCL2 with an occasional CD99, and S100 positivity but not desmin. We present a case of metastatic synovial sarcoma with unusual immunophenotype causing diagnostic challenges. The tumor cells showed focal cytokeratin, EMA, and, unexpectedly, desmin positivity. Additional intranuclear TLE-1 positivity and negativity for CD34 and DOG-1 were also identified. A diagnosis of monophasic synovial sarcoma was confirmed by using FISH break-apart probe. RT-PCR revealed the SYT-SSX1 fusion gene. Intra-abdominal synovial sarcoma, either primary or metastatic, with unusual desmin positivity raises the diagnostic challenge, since a wide range of differential diagnoses could show a similar immunophenotype (leiomyosarcoma, desmoid tumor, myofibroblastic tumor, and rarely GIST etc.). Typical morphology and focal cytokeratin/EMA positivity should alert to this tumor, and FISH and RT-PCR remain the gold standard for the confirmation. |
| format | Article |
| id | doaj-art-0623cb674e5745b5861b8bf5fb9f9ede |
| institution | Kabale University |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-0623cb674e5745b5861b8bf5fb9f9ede2025-02-03T05:50:53ZengWileyCase Reports in Pathology2090-67812090-679X2012-01-01201210.1155/2012/786083786083A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential DiagnosisYi-Che Changchien0Uhrin Katalin1János Fillinger2László Fónyad3Gergő Papp4Ferenc Salamon5Zoltán Sápi61st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest 1085, HungaryDepartment of Pathology, Kátai Gábor Hospital, Karcag 5300, HungaryDepartment of Pathology, Korányi Hospital, Budapest 1121, Hungary1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest 1085, Hungary1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest 1085, HungaryDepartment of Pathology, Uzsoki Hospital, Budapest 1145, Hungary1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest 1085, HungaryThe primary and metastatic gastrointestinal synovial sarcoma is rare with a wide differential diagnosis. It usually expresses cytokeratins EMA, BCL2 with an occasional CD99, and S100 positivity but not desmin. We present a case of metastatic synovial sarcoma with unusual immunophenotype causing diagnostic challenges. The tumor cells showed focal cytokeratin, EMA, and, unexpectedly, desmin positivity. Additional intranuclear TLE-1 positivity and negativity for CD34 and DOG-1 were also identified. A diagnosis of monophasic synovial sarcoma was confirmed by using FISH break-apart probe. RT-PCR revealed the SYT-SSX1 fusion gene. Intra-abdominal synovial sarcoma, either primary or metastatic, with unusual desmin positivity raises the diagnostic challenge, since a wide range of differential diagnoses could show a similar immunophenotype (leiomyosarcoma, desmoid tumor, myofibroblastic tumor, and rarely GIST etc.). Typical morphology and focal cytokeratin/EMA positivity should alert to this tumor, and FISH and RT-PCR remain the gold standard for the confirmation.http://dx.doi.org/10.1155/2012/786083 |
| spellingShingle | Yi-Che Changchien Uhrin Katalin János Fillinger László Fónyad Gergő Papp Ferenc Salamon Zoltán Sápi A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis Case Reports in Pathology |
| title | A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis |
| title_full | A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis |
| title_fullStr | A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis |
| title_full_unstemmed | A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis |
| title_short | A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis |
| title_sort | challenging case of metastatic intra abdominal synovial sarcoma with unusual immunophenotype and its differential diagnosis |
| url | http://dx.doi.org/10.1155/2012/786083 |
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