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Clear cell sarcoma of the ileum: Report of a case and review of the literature

机译:回肠透明细胞肉瘤:一例报告并文献复习

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Introduction. Clear cell sarcoma of the gastrointestinal tract (CCS-GI) is an extremely rare and aggressive tumor, which often mimics other neoplastic processes. Because of this feature, its real incidence may have been underestimated, especially in the past when genetic tests were less available than nowadays. To date, less then 30 cases have been described in the literature on the GI tract. Case presentation. We report the case of a 69-year-old woman who presented with active rectal bleeding. After a negative colonoscopy, the patient underwent a video-capsule endoscopy. The latter detected an ileal mass that was surgically resected. The microscopic appearance was consistent with a malignant mesenchymal neoplasm; immunohistochemistry was positive for S100 protein, CD56, and INI1. Fluorescence in situ hybridization showed a translocation involving the EWSR1 (Ewing sarcoma 1) gene region. All these findings were consistent with a CCS-GI. Conclusion. Herein we present a case of CCS-GI, discuss its clinical and pathological features, and review the literature on the subject.
机译:介绍。胃肠道透明细胞肉瘤(CCS-GI)是一种极为罕见和侵袭性的肿瘤,通常模仿其他肿瘤过程。由于此功能,其实际发生率可能被低估了,尤其是在过去基因检测比现在少的情况下。迄今为止,在胃肠道的文献中仅描述了不到30例。案例介绍。我们报告了一名69岁主动直肠出血患者的病例。结肠镜检查阴性后,患者接受了视频胶囊内窥镜检查。后者检测到回肠肿块,已通过手术切除。镜下外观与恶性间质瘤一致。免疫组化对S100蛋白,CD56和INI1呈阳性。荧光原位杂交显示涉及EWSR1(尤文肉瘤1)基因区域的易位。所有这些发现均与CCS-GI一致。结论。在这里,我们介绍一例CCS-GI,讨论其临床和病理特征,并复习有关该主题的文献。

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