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23 May 2024 : Case report  China (mainland)

Duodenal Soft Tissue Sarcoma with GLI1 Gene Rearrangement: A Case Report and Literature Review

Rare disease

Jinghe Li ORCID logo1ABCDEF, Ling Zuo1BCF, Li Tang1BCF, Xiaochu Yan2ACDF, Shengkai Chen1ABCDG*

DOI: 10.12659/AJCR.943271

Am J Case Rep 2024; 25:e943271

Figure 2. Pathology and FISH test results. Microscopic image demonstrating tumor cells distributed in nests with glassy degeneration of septal collagen fibers and surrounding tissue infiltration. The tumor cells are round or fusiform in shape and epithelioid-like. The cytoplasm shows eosinophilic staining. The shapes of the nuclei are relatively homogeneous. The chromatin is fine. The nucleoli are inconspicuous. Cytoplasmic clear cells can be observed locally. Arborized blood vessels are abundant in the stroma and some areas show a myxoid matrix (A–D). FISH shows the break of GLI1 gene. Among 100 counted cells, there are 17 wild-type cells and 83 (83%) cells with GLI1 break, accounting for 83% (E). The EWSR1 gene does not show an apparent break. Among 100 counted cells, there are 99 wild-type cells and 1 (1%) cell with an EWSR1 break (F). Interpretation of FISH testing results is: 1) Normal cells (2 yellow fusion signals) indicating that the gene is not broken, and 2) Typical abnormal cells (1 yellow fusion signal, 1 red signal, and 1 green signal) indicating that the gene is broken.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923