直肠尤文氏肉瘤:罕见骨外肿瘤1例报告

Athary Saleem, Hadeel Al Muzayen, Mohammed Alshamali, Emad Fahim, Sami Aldaoud, Nawaf Alkhalifah, Khaleel Mohammad
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引用次数: 1

摘要

骨外尤文氏肉瘤是一种罕见的软组织恶性肿瘤。这些侵袭性间充质肿瘤的特征是22号染色体上的尤因肉瘤基因(EWS)的遗传改变。体征和症状通常是非特异性的。EES的临床诊断具有挑战性。病例介绍:一名31岁女性患者因直肠出血来我院就诊。体格检查发现直肠肿块疼痛并伴有红斑出血。骨盆MRI显示右侧边界清楚的肛周肿块,尺寸为6.8 × 6.0 cm。随后手术切除直肠肿块。切除的标本,包括直肠后壁带蒂的直肠肿块,送去组织病理学检查。术后顺利。组织病理学检查提示直肠EES。临床讨论:EES是一种罕见的尤因氏肉瘤家族肿瘤,其特点是病理易位。EES的临床特征包括局部疼痛和/或肿胀。EES的诊断依赖于组织病理学和免疫组织化学分析。CT、MRI和PET/CT等成像方式对于评估EES转移和评估局部肿瘤可切除性至关重要。结论:由于罕见的直肠EES实体,我们报告了一例31岁女性直肠出血,发现直肠尤文氏肉瘤。
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Rectal Ewing’s Sarcoma: A Case Report of An Unusual Extra-Skeletal Tumor Presentation
Introduction: Extraskeletal Ewing’s sarcoma (EES) is a rare malignant soft tissue tumor. Those aggressive mesenchymal tumors are characterized by genetic alterations of the Ewing sarcoma gene (EWS) on chromosome 22. Signs and symptoms are usually non-specific. The clinical diagnosis of EES is challenging. Case Presentation: A 31-year-old female patient presented to our hospital with rectal bleeding. Physical examination revealed a painful and erythematous bleeding rectal mass. A pelvic MRI revealed a right-sided well-circumscribed perianal mass measuring 6.8 × 6.0 cm. Surgical excision of the rectal mass was subsequently performed. The resected specimen, including the rectal mass with a pedicle from the posterior rectal wall was sent for histopathological examination. The postoperative period was uneventful. Histopathology examination was suggestive of EES of the rectum. Clinical Discussion: EES is an unusual entity of Ewing's Sarcoma Family of Tumors, which are characterized by pathognomonic translocations. The clinical features of EES include localized pain and/or swelling. Diagnosis of EES relies on histopathology and immunohistochemistry analysis. Imaging modalities such as CT, MRI, and PET/CT are crucial to evaluate EES metastasis and assess local tumor resectability. Conclusion: Due to the rare entity of EES of the rectum, we report the case of a 31-year-old female with rectal bleeding, found to be rectal Ewing’s sarcoma.
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Rectal Ewing’s Sarcoma: A Case Report of An Unusual Extra-Skeletal Tumor Presentation An Overview of Definition and Approaches to Petroclival Meningioma
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