Primary Clear Cell Sarcoma of the Ileum: A Case Report With Next-Generation Sequencing Analysis
| Autor: | Long Zhang, Ke Bi, Yu Zeng, Yunjin Wu, Tingting Zhang, Peipei Zhu, Xianghua Yi, Xue Chen, Haoyang Zhang, Dandan Huang |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Oncogene Proteins Fusion SOX10 Biology S100 protein Pathology and Forensic Medicine Fusion gene 03 medical and health sciences 0302 clinical medicine Ileum medicine Humans Neuroectodermal tumor Aged Activating Transcription Factor 1 Gene Rearrangement medicine.diagnostic_test fungi High-Throughput Nucleotide Sequencing Exons medicine.disease Ileal Neoplasms 030104 developmental biology 030220 oncology & carcinogenesis Surgery Sarcoma Clear Cell Clear-cell sarcoma RNA-Binding Protein EWS Anatomy Tomography X-Ray Computed Epithelioid cell Clear cell Fluorescence in situ hybridization |
| Zdroj: | International Journal of Surgical Pathology. 29:677-684 |
| ISSN: | 1940-2465 1066-8969 |
| DOI: | 10.1177/1066896920985311 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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