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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.

DOI:10.7759/cureus.89568
PMID:40787192
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12335334/
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/c8c19b551020/cureus-0017-00000089568-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/0f5747b1907f/cureus-0017-00000089568-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/de80eccc5d6e/cureus-0017-00000089568-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/265d3eed7858/cureus-0017-00000089568-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/f74d8f547597/cureus-0017-00000089568-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/c8c19b551020/cureus-0017-00000089568-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/0f5747b1907f/cureus-0017-00000089568-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/de80eccc5d6e/cureus-0017-00000089568-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/265d3eed7858/cureus-0017-00000089568-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/f74d8f547597/cureus-0017-00000089568-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99e9/12335334/c8c19b551020/cureus-0017-00000089568-i05.jpg

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本文引用的文献

1
Sarcomas Harboring EWSR1::PATZ1 Fusions: A Clinicopathologic Study of 17 Cases.EWSR1::PATZ1 融合基因阳性肉瘤:17 例临床病理研究。
Mod Pathol. 2024 Feb;37(2):100400. doi: 10.1016/j.modpat.2023.100400. Epub 2023 Dec 1.
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Staging and Classification of Primary Musculoskeletal Bone and Soft-Tissue Tumors According to the 2020 WHO Update, From the Special Series on Cancer Staging.根据 2020 年世卫组织更新版,对原发性肌肉骨骼骨和软组织肿瘤进行分期和分类,选自癌症分期特刊系列。
AJR Am J Roentgenol. 2021 Nov;217(5):1038-1052. doi: 10.2214/AJR.21.25658. Epub 2021 Apr 14.
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Round Cell Sarcoma with EWSR1-PATZ1 Fusion in the Face of a Five-Year-Old Boy: Report of a Case with Unusual Histologic Features.
面部小圆细胞肉瘤伴 EWSR1-PATZ1 融合:一例具有不典型组织学特征的病例报告。
Head Neck Pathol. 2021 Dec;15(4):1350-1358. doi: 10.1007/s12105-021-01285-w. Epub 2021 Jan 18.
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Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.扩大 EWSR1-PATZ1 重排中枢神经系统肿瘤谱:一例伴软脑膜播散的婴儿病例。
Brain Pathol. 2021 May;31(3):e12934. doi: 10.1111/bpa.12934. Epub 2021 Feb 15.
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[EWSR1-PATZ1 fusion sarcoma - A new case report and review of the literature].[EWSR1-PATZ1融合肉瘤——一例新病例报告及文献复习]
Ann Pathol. 2021 Apr;41(2):207-211. doi: 10.1016/j.annpat.2020.08.004. Epub 2020 Oct 16.
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EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers.EWSR1-PATZ1 重排肉瘤:九例具有偏爱胸腹腔软组织倾向的梭形和圆形细胞肿瘤,常表达神经和骨骼肌标志物。
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The 2020 WHO Classification of Tumors of Soft Tissue: Selected Changes and New Entities.《2020 年世卫组织软组织肿瘤分类:精选变更和新实体》。
Adv Anat Pathol. 2021 Jan;28(1):44-58. doi: 10.1097/PAP.0000000000000284.
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The clinical heterogeneity of round cell sarcomas with EWSR1/FUS gene fusions: Impact of gene fusion type on clinical features and outcome.具有 EWSR1/FUS 基因融合的圆形细胞肉瘤的临床异质性:基因融合类型对临床特征和结局的影响。
Genes Chromosomes Cancer. 2020 Sep;59(9):525-534. doi: 10.1002/gcc.22857. Epub 2020 May 28.
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Laryngoscope. 2020 Dec;130(12):E833-E836. doi: 10.1002/lary.28554. Epub 2020 Mar 5.
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Mod Pathol. 2019 Nov;32(11):1593-1604. doi: 10.1038/s41379-019-0301-1. Epub 2019 Jun 12.