Infantile Epithelioid Sarcoma with Genomic Segmental Amplification of BIRC3/YAP1 as Double Minutes Plus Trisomy 2: A Case Report

Anand SrinivasanJimmy Everest Section of Pediatric Hematology/Oncology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OKC, USA;

http://orcid.org/0000-0002-4983-5039

Meng LiuGenetic Section of Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OKC, USA; ;Department of Hematology, China Medical University First Hospital, Shenyang, China;

David ParhamPathology and Lab Medicine, Children's Hospital of Los Angeles, Los Angeles, CA, USA;

Ming LiGenetic Section of Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OKC, USA;

Xianfu WangGenetic Section of Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OKC, USA;

Xianglan LuGenetic Section of Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OKC, USA;

Shibo LiGenetic Section of Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OKC, USA;

Lijun ZhangDepartment of Hematology, China Medical University First Hospital, Shenyang, China; Correspondence[email protected]

Zhongxin YuDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OKC, USACorrespondence[email protected]

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Abstract

Introduction: 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 hSNF5/SMARCB1/INI1 tumor suppressor gene. This tumor typically affects young adults and older children, but it is uncommon in infants. Case Report: 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 YAP1 and BIRC3; FISH testing proved that the double minutes consisted of BIRC3 and YAP1, potent oncogenes related to tumorigenesis of several types of tumors but not described in epithelioid sarcoma. Conclusion: 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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The authors report no conflict of interest concerning the materials or methods used in this study or the results specified in this manuscript.

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Infantile Epithelioid Sarcoma with Genomic Segmental Amplification of BIRC3/YAP1 as Double Minutes Plus Trisomy 2: A Case Report

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Infantile Epithelioid Sarcoma with Genomic Segmental Amplification of BIRC3/YAP1 as Double Minutes Plus Trisomy 2: A Case Report

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