Abstract
<div>Abstract<p>Epithelioid sarcoma is a rare soft tissue neoplasm of uncertain lineage that usually arises in the distal extremities of adults, presents a high rate of recurrences and metastases and frequently poses diagnostic dilemmas. The recently reported large-cell “proximal-type” variant is characterized by increased aggressiveness, deep location, preferential occurrence in proximal/axial regions of older patients, and rhabdoid features. Previous cytogenetic studies indicated that the most frequent alterations associated with this tumor entity affect chromosome 22. In this study, combined spectral karyotyping, fluorescence <i>in situ</i> hybridization, and array-based comparative genomic hybridization analyses of two proximal-type cases harboring a rearrangement involving 10q26 and 22q11 revealed that the 22q11 breakpoints were located in a 150-kb region containing the <i>SMARCB1/INI1</i> gene, and that homozygous deletion of the gene was present in the tumor tissue. The <i>SMARCB1/INI1</i> gene encodes for an invariant subunit of SWI/SNF chromatin remodeling complex and has been previously reported to act as a tumor suppressor gene frequently inactivated in infantile malignant rhabdoid tumors. We analyzed <i>SMARCB1/INI1</i> gene status in nine additional epithelioid sarcoma cases (four proximal types and five conventional types) and altogether we identified deletions of <i>SMARCB1/INI1</i> gene in 5 of 11 cases, all proximal types. We confirmed and further extended the number of cases with <i>SMARCB1/INI1</i> inactivation to 6 of 11 cases, by real-time quantitative PCR analysis of mRNA expression and by SMARCB1/INI1 immunohistochemistry. Overall, these results point to <i>SMARCB1/INI1</i> gene involvement in the genesis and/or progression of epithelioid sarcomas. Analysis of larger series of epithelioid sarcomas will be necessary to highlight putative clinically relevant features related to <i>SMARCB1/INI1</i> inactivation.</p></div>
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