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

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...

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Bibliographic Details
Published in:International journal of surgical pathology 2021-09, Vol.29 (6), p.677-684
Main Authors: Zhu, Peipei, Zhang, Tingting, Bi, Ke, Wu, Yunjin, Chen, Xue, Zhang, Haoyang, Huang, Dandan, Zhang, Long, Zeng, Yu, Yi, Xianghua
Format: Article
Language:English
Subjects:
Activating Transcription Factor 1 - genetics
Aged
Case reports
Exons
Gene Rearrangement
High-Throughput Nucleotide Sequencing
Humans
Ileal Neoplasms - diagnosis
Ileal Neoplasms - genetics
Ileal Neoplasms - pathology
Ileal Neoplasms - surgery
Ileum - diagnostic imaging
Ileum - pathology
Ileum - surgery
Male
Oncogene Proteins, Fusion - genetics
RNA-Binding Protein EWS - genetics
Sarcoma
Sarcoma, Clear Cell - diagnosis
Sarcoma, Clear Cell - genetics
Sarcoma, Clear Cell - pathology
Sarcoma, Clear Cell - surgery
Small intestine
Tomography, X-Ray Computed
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Summary: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.
ISSN:1066-8969
1940-2465
DOI:10.1177/1066896920985311