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Updated: Apr 24, 2026

Induction of Mesenchymal-Epithelial Transitions in Sarcoma Cells
Published on: April 7, 2017
Concurrent loss of INI1, PBRM1, and BRM expression in epithelioid sarcoma: implications for the cocontributions of
Li Li1, Xiang-Shan Fan2, Qiu-Yuan Xia2
1Department of Pathology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China; Department of Pathology, Anhui Medical University, Hefei, China.
Abstract:
The loss of INI1 (SMARCB1) expression, caused by SMARCB1 (INI1, SNF5L4, BAF47) inactivation, frequently occurs in epithelioid sarcoma (ES) and could aid in confirming the diagnosis. Except for INI1, the expression of switch in mating type/sucrose nonfermentation complex members in ES has never been examined. In this study, the expression of key subunits of this complex-INI1, BRG1 (SMARCA4), BRM (SNF2L2, SMARCA2), PBRM1 (hPB1, BAF180), and BAF155 (SMARCC1)-was analyzed in 23 ES cases: 15 conventional and 8 proximal type. All of the cases were reviewed and reclassified by hematoxylin-eosin staining and immunostaining for cytokeratin AE1/3, epithelial membrane antigen, CD34, vimentin, and INI1 expression. Of the 23 ES cases, 19 (82.6%) showed a loss of PBRM1, and 18 (78.3%), a loss of INI1. In most cases (17, 73.9%), loss of INI1 and PBRM1 expression was observed. The pattern of PBRM1 expression was similar to that of INI1, that is, not correlated with changes in cellular morphology. The concurrent loss of BRM, PBRM1, and INI1expression was detected in 2 cases with pure rhabdoid tumor features. The frequent observation of concurrent loss of INI1 and PBRM1 suggests that certain switch in mating type/sucrose nonfermentation complex components might act synergistically in the pathogenesis of ES by unknown mechanisms and that these components could provide new targets for therapy. The usefulness of PBRM1 as a biomarker of ES and its mechanism in ES require further investigation. Loss of BRM in ES with pure rhabdoid features suggests that BRM might be involved in the underlying mechanisms of this type of ES.
Insights
Loss of INI1 and PBRM1 expression is common in epithelioid sarcoma (ES), suggesting these proteins may work together in ES development. This finding could lead to new therapeutic targets for ES.
Area of Science:
- Oncology
- Molecular Biology
- Cancer Genetics
Background:
- INI1 (SMARCB1) loss is a known diagnostic marker for epithelioid sarcoma (ES).
- The expression of other SWI/SNF complex members in ES has not been previously investigated.
Purpose of the Study:
- To analyze the expression of key SWI/SNF complex subunits in epithelioid sarcoma.
- To investigate the potential role of these subunits in ES pathogenesis and as therapeutic targets.
Main Methods:
- Retrospective analysis of 23 epithelioid sarcoma cases (15 conventional, 8 proximal).
- Reclassification using H&E staining and immunohistochemistry for cytokeratin, EMA, CD34, vimentin, and INI1.
- Analysis of INI1, BRG1, BRM, PBRM1, and BAF155 expression.
Main Results:
- Loss of PBRM1 (82.6%) and INI1 (78.3%) expression was frequent in ES.
- Concurrent loss of INI1 and PBRM1 was observed in 73.9% of cases.
- Concurrent loss of BRM, PBRM1, and INI1 was noted in 2 cases with rhabdoid features.
Conclusions:
- Frequent co-occurrence of INI1 and PBRM1 loss suggests synergistic roles in ES pathogenesis.
- SWI/SNF complex components may represent novel therapeutic targets for ES.
- PBRM1 warrants further investigation as an ES biomarker, and BRM may be involved in rhabdoid ES.
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