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伴有EWSR1-PATZ1融合的惰性腹壁圆形细胞肉瘤:一例报告及文献综述

Indolent Abdominal Wall Round Cell Sarcoma With EWSR1-PATZ1 Fusion: A Case Report and Literature Review.

作者信息

Haddad Moreen, Xie Victoria, Rivard Justin, Lu Miao, Garvin Gregory J, Kalikias Saman, Yan Yi

机构信息

Department of Pathology, Max Rady College of Medicine, University of Manitoba, Winnipeg, CAN.

Interdisciplinary Health Program, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, CAN.

出版信息

Cureus. 2025 Aug 7;17(8):e89568. doi: 10.7759/cureus.89568. eCollection 2025 Aug.

Abstract

Soft tissue sarcomas with Ewing Sarcoma Breakpoint Region 1-POZ/BTB and AT Hook Containing Zinc Finger 1 (EWSR1-PATZ1) gene fusion represent a recently recognized subgroup of "round cell sarcomas with EWSR1-non-ETS fusions." These tumors exhibit diverse morphologic features and a polyphenotypic immunoprofile, often co-expressing neural and skeletal muscle markers. Their clinical behavior ranges widely, from indolent to highly aggressive. We report the case of a 57-year-old man presenting with a 6.5 cm right abdominal wall mass incidentally discovered on CT imaging performed for choledocholithiasis. Ultrasound-guided biopsy revealed a low-grade spindle cell neoplasm, and the patient subsequently underwent marginal excision. Microscopic examination showed solid and pseudocystic architecture with thick fibrous septa, composed of round and spindle cells with eosinophilic or clear vacuolated cytoplasm and vesicular chromatin. Immunohistochemistry displayed positivity for CD99, BCL-2, and patchy desmin positivity. Targeted gene fusion analysis confirmed EWSR1-PATZ1 fusion. Given the long-standing, asymptomatic nature of the mass, the patient was managed with clinical surveillance and remains disease-free for three years post-excision. Due to the rarity of these tumors, their biologic behavior and optimal management remain uncertain, highlighting the need for individualized treatment strategies and long-term follow-up.

摘要

伴有尤因肉瘤断点区域1- POZ/BTB和含锌指结构域的AT钩蛋白1(EWSR1-PATZ1)基因融合的软组织肉瘤是最近才被认识到的“伴有EWSR1-非ETS融合的圆形细胞肉瘤”亚组。这些肿瘤表现出多样的形态学特征和多表型免疫谱,常同时表达神经和骨骼肌标志物。它们的临床行为差异很大,从惰性到高度侵袭性都有。我们报告了一例57岁男性患者,因胆总管结石行CT检查时偶然发现右腹壁有一个6.5 cm的肿块。超声引导下活检显示为低级别梭形细胞肿瘤,患者随后接受了边缘性切除。显微镜检查显示为实性和假囊性结构,有厚的纤维间隔,由圆形和梭形细胞组成,胞质嗜酸性或透明空泡状,核呈泡状染色质。免疫组化显示CD99、BCL-2阳性,结蛋白呈散在阳性。靶向基因融合分析证实了EWSR1-PATZ1融合。鉴于肿块长期无症状的性质,患者接受了临床监测,切除后三年无疾病复发。由于这些肿瘤罕见,它们的生物学行为和最佳治疗方案仍不确定,这突出了个体化治疗策略和长期随访的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/0f5747b1907f/cureus-0017-00000089568-i01.jpg

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