Primary Clear Cell Sarcoma of the Ileum: A Case Report With Next-Generation Sequencing Analysis

Author:

Zhu Peipei1,Zhang Tingting1,Bi Ke1,Wu Yunjin1,Chen Xue1ORCID,Zhang Haoyang1,Huang Dandan1,Zhang Long1,Zeng Yu1,Yi Xianghua1ORCID

Affiliation:

1. Department of Pathology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China

Abstract

As the concept of clear cell sarcoma–like tumor or malignant gastrointestinal neuroectodermal tumor (CCS-LT/MGNET) has been widely accepted, primary CCS of the gastrointestinal tract (CCS-GI) is becoming a rare entity. In this article, we describe a case of primary CCS-GI that occurred in the ileum of a 65-year-old male to further illustrate its rare occurrence. Similar to CCS of soft tissue (CCS-ST), the tumor was composed of spindled to epithelioid cells displaying fascicular, nested, or pseudopapillary arrangement. The tumor cells had large round to ovoid nuclei with vesicular chromatin and prominent nucleoli, containing eosinophilic to pale cytoplasm. In contrast to CCS-LT/MGNET, immunohistochemical study also showed variable positivity of HMB45, melan A, and MiTF besides the strong and diffuse staining of S100 protein and SOX10. Fluorescence in situ hybridization (FISH) using fusion probes identified EWSR1 and ATF1 genes rearrangement. Next-generation sequencing (NGS) analysis further revealed EWSR1 exons9/8- ATF1 exon4 and ATF1 exon3- EWSR1 exon11 fusion genes. CCS-GI and CCS-LT/MGNET possibly represent 2 related entities of the same spectrum, which differentiate along 2 different pathways.

Funder

National Natural Science Foundation of China

Shanghai health bureau key special fund for medicine

Natural Science Foundation of Shanghai

Shanghai science and technology commission medical guidance project fund

Publisher

SAGE Publications

Subject

Pathology and Forensic Medicine,Surgery,Anatomy

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