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Article Abstract

Epithelioid sarcoma is a malignant mesenchymal tumor exhibiting epithelioid cytomorphology and epithelial phenotype. Its histogenesis is unknown, but its tumorigenesis may relate to inactivation of tumor suppressor gene. This tumor typically affects young adults and older children, but it is uncommon in infants. We describe a unique neoplasm in a 15-month-old infant presenting with a heel mass. The tumor was remarkable for retention of SMARCB1/INI1 expression. Conventional cytogenetic analysis revealed trisomy 2 and double minutes, and SNP array analysis confirmed the trisomy 2 and identified segmental amplification of chromosome 11 containing and ; FISH testing proved that the double minutes consisted of and , potent oncogenes related to tumorigenesis of several types of tumors but not described in epithelioid sarcoma. Our findings expand the spectrum of cytogenetic alterations in this neoplasm, help in better understanding its tumorigenesis, and suggest potential therapeutic targets.

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http://dx.doi.org/10.1080/15513815.2019.1627629DOI Listing

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