TLE1 is a robust diagnostic biomarker for synovial sarcomas and correlates with t(X;18): Analysis of 319 cases

Knösel, Thomas; Heretsch, Sarah; Altendorf-Hofmann, A.; Richter, Petra; Katenkamp, Kathrin; Katenkamp, D.; Berndt, Alexander; Petersen, Iver

doi:10.1016/j.ejca.2010.01.032

Cited by 117 publications

(78 citation statements)

References 18 publications

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“…10,12,[29][30][31] TLE1 shows promise as a marker of synovial sarcoma, but weak and variable expression can be seen in malignant peripheral nerve sheath tumors. [32][33][34][35] Consequently, genetic and molecular tests to demonstrate t(X;18) rearrangement or SS18-SSX fusion, respectively, have become routine at many specialized centers to confirm the diagnosis of synovial sarcoma. Although some controversy existed in the past regarding the specificity of this genetic abnormality, 36,37 the current consensus among sarcoma pathologists is that SS18-SSX fusions are highly specific for synovial sarcoma.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic utility of SOX10 to distinguish malignant peripheral nerve sheath tumor from synovial sarcoma, including intraneural synovial sarcoma

et al. 2014

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Synovial sarcoma and malignant peripheral nerve sheath tumor pose a significant diagnostic challenge given similar histomorphology. The distinction is further complicated by similar immunophenotype and especially by occasional synovial sarcomas that present as intraneural tumors. Although the presence of a t(X;18) rearrangement or expression of TLE1 can help confirm the diagnosis of synovial sarcoma, negative results for these tests are not diagnostic of malignant peripheral nerve sheath tumor. The SOX10 transcription factor, a putative marker of neural crest differentiation, may have diagnostic utility in this differential, but immunohistochemical data are limited. The goal of the present study was to determine the diagnostic utility of SOX10 to discriminate between synovial sarcoma and malignant peripheral nerve sheath tumor. Forty-eight cases of malignant peripheral nerve sheath tumor, all from patients with documented neurofibromatosis, and 97 cases of genetically confirmed synovial sarcoma, including 4 intraneural synovial sarcomas, were immunohistochemically stained for SOX10. The stain was scored for intensity and fraction of cells staining. Thirty-two of 48 malignant peripheral nerve sheath tumors (67%) were SOX10-positive. The majority of malignant peripheral nerve sheath tumors showed Z2 þ staining, but staining did not correlate with grade. By contrast, only 7/97 (7%) synovial sarcomas were SOX10-positive. Only three synovial sarcomas showed Z2 þ staining but, importantly, two of these were intraneural synovial sarcoma. Therefore, SOX10 is a specific (93%), albeit not very sensitive (67%), diagnostic marker to support a diagnosis of malignant peripheral nerve sheath tumor over synovial sarcoma. Furthermore, the stain needs to be interpreted with caution in intraneural tumors in order to avoid a potential diagnostic pitfall. It remains to be determined whether SOX10-positive cells in intraneural synovial sarcoma represent entrapped Schwann cells, synovial sarcoma cells or both.

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Section: Discussionmentioning

confidence: 99%

Diagnostic utility of SOX10 to distinguish malignant peripheral nerve sheath tumor from synovial sarcoma, including intraneural synovial sarcoma

et al. 2014

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“…Granular cell tumor is positive for S100 protein, carcinoembryonic antigen, and periodic acidSchiff, but it is negative for HMB-45 and Melan-A. Up to 30% of synovial sarcomas can express S100 protein, but they are also positive for TLE-1, 31 focally so for cytokeratins and epithelial membrane antigen (EMA), and also express bcl2 and CD99 while CCSLGT is negative for these. Synovial sarcoma also has a specific translocation, t(X;18), resulting in SS18-SSX fusion genes, which are absent in all other neoplasms.…”

Section: Differential Diagnosismentioning

confidence: 99%

Clear Cell Sarcoma–like Tumor of the Gastrointestinal Tract: An Evolving Entity

Wang

Thway

2015

Archives of Pathology &Amp; Laboratory Medicine

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Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is a rare malignant neoplasm that occurs in the wall of the small bowel, stomach, or large bowel, predominantly in young adults. It is an aggressive neoplasm that frequently presents with metastatic disease and has a high mortality rate. Histologically, it is usually composed of medium-sized primitive ovoid or epithelioid cells with pale or clear cytoplasm that are arranged in sheets or in papillary or alveolar architectures. Clear cell sarcoma-like tumor of the gastrointestinal tract is positive for S100 protein, invariably negative for melanocytespecific markers and is often also positive for neuroendocrine markers. The etiology of CCSLGT is unknown, but many studies have shown associations with EWSR1-CREB1 gene fusions and, less frequently, with EWSR1-ATF1 fusions. Here, we discuss the current status of CCSLGT, including histologic, immunophenotypic, and molecular findings.

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“…94 By immunohistochemistry, TLE1 shows moderate-tostrong, diffuse nuclear staining in the majority of synovial sarcomas (80-90%) (Figure 14). [95][96][97][98] TLE1 is a relatively specific marker for synovial sarcoma that can be helpful in differential diagnosis, as it is only positive in a small subset of malignant peripheral nerve sheath tumors and solitary fibrous tumors (usually with only weak staining), and it is consistently negative in Ewing sarcomas (which can be mistaken for poorly differentiated synovial sarcomas). 95,97 MUC4 is a high-molecular-weight transmembrane glycoprotein expressed on the surface of some glandular epithelial cell types.…”

Section: Lineage-restricted Transcription Factorsmentioning

confidence: 99%

“…[95][96][97][98] TLE1 is a relatively specific marker for synovial sarcoma that can be helpful in differential diagnosis, as it is only positive in a small subset of malignant peripheral nerve sheath tumors and solitary fibrous tumors (usually with only weak staining), and it is consistently negative in Ewing sarcomas (which can be mistaken for poorly differentiated synovial sarcomas). 95,97 MUC4 is a high-molecular-weight transmembrane glycoprotein expressed on the surface of some glandular epithelial cell types. Gene expression profiling has recently indicated that this epithelial mucin is highly expressed by low-grade fibromyxoid sarcoma (LGFMS), 99 which is typically characterized by the t(7;16) translocation, resulting in FUS-CREB3L2 rearrangement, or more rarely t(11;16), resulting in FUS-CREB3L1 fusion.…”

Section: Lineage-restricted Transcription Factorsmentioning

confidence: 99%

Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors

Hornick

2014

Modern Pathology

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Immunohistochemistry plays a key role in the diagnosis of soft tissue tumors. Until recently, however, the primary purpose of immunohistochemistry in this context was simply to attempt to demonstrate a line of differentiation. Unfortunately, most traditional markers (predominantly directed against cytoplasmic determinants) show relatively limited specificity. Over the last decade or so, much more specific immunohistochemical markers for soft tissue tumors have been developed. This review will provide an update of some of the most useful new diagnostic markers, which are significantly changing clinical practice for surgical pathologists, separated into three general categories: (1) lineage-restricted transcription factors, (2) protein correlates of molecular alterations, and (3) diagnostic markers identified by gene expression profiling.

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TLE1 is a robust diagnostic biomarker for synovial sarcomas and correlates with t(X;18): Analysis of 319 cases

Cited by 117 publications

References 18 publications

Diagnostic utility of SOX10 to distinguish malignant peripheral nerve sheath tumor from synovial sarcoma, including intraneural synovial sarcoma

Diagnostic utility of SOX10 to distinguish malignant peripheral nerve sheath tumor from synovial sarcoma, including intraneural synovial sarcoma

Clear Cell Sarcoma–like Tumor of the Gastrointestinal Tract: An Evolving Entity

Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors

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