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一名有三阴性乳腺癌病史的63岁女性的骨外尤文肉瘤:病例报告及文献综述

Extra-skeletal Ewing sarcoma in a 63-year-old female with a history of triple-negative breast cancer: a case report and literature review.

作者信息

Ho Man Kit, Safavi Golnesa, Jeon Won Jin, Mendoza Evelyn

机构信息

Department of Internal Medicine, Loma Linda University Medical Center - Murrieta, Murrieta, CA, United States.

Division of Medical Oncology and Hematology, Department of Internal Medicine, Loma Linda University, Loma Linda, CA, United States.

出版信息

Front Oncol. 2025 May 23;15:1545896. doi: 10.3389/fonc.2025.1545896. eCollection 2025.

DOI:10.3389/fonc.2025.1545896
PMID:40485740
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12141292/
Abstract

Ewing sarcoma (ES), particularly Extra-skeletal Ewing sarcoma (EES), is a rare, aggressive tumor predominantly affecting adolescents and young adults, yet it can occur in older patients, leading to misdiagnosis and delay in treatment. The standard approach includes surgical resection, chemotherapy, and radiation therapy for unresectable disease. This case report presents a 63-year-old female patient with a history of triple-negative breast cancer, who was discovered to have a soft tissue tumor in the left medial thigh. Initially misdiagnosed as rhabdomyosarcoma, the diagnosis of EES was ultimately confirmed via RNA sequencing revealing the EWSR1-FLI1 fusion gene. She underwent neoadjuvant chemotherapy followed by radical resection of the tumor.

摘要

尤因肉瘤(ES),特别是骨外尤因肉瘤(EES),是一种罕见的侵袭性肿瘤,主要影响青少年和年轻成年人,但也可发生于老年患者,导致误诊和治疗延误。标准治疗方法包括手术切除、化疗以及对不可切除疾病进行放射治疗。本病例报告介绍了一名63岁的女性患者,她有三阴性乳腺癌病史,在左大腿内侧发现一个软组织肿瘤。最初被误诊为横纹肌肉瘤,最终通过RNA测序发现EWSR1-FLI1融合基因确诊为EES。她接受了新辅助化疗,随后进行了肿瘤根治性切除。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1cc/12141292/b3d6e47f75ec/fonc-15-1545896-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1cc/12141292/007de3c8d956/fonc-15-1545896-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1cc/12141292/acd9626573aa/fonc-15-1545896-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1cc/12141292/b3d6e47f75ec/fonc-15-1545896-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1cc/12141292/007de3c8d956/fonc-15-1545896-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1cc/12141292/acd9626573aa/fonc-15-1545896-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1cc/12141292/b3d6e47f75ec/fonc-15-1545896-g003.jpg

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本文引用的文献

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Oncol Res Treat. 2024;47(10):496-508. doi: 10.1159/000540613. Epub 2024 Jul 31.
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Ewing sarcoma from molecular biology to the clinic.尤因肉瘤:从分子生物学到临床应用
Front Cell Dev Biol. 2023 Sep 11;11:1248753. doi: 10.3389/fcell.2023.1248753. eCollection 2023.
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Clinicodemographic characteristics of extraosseous ewing sarcoma: A comparative meta-analysis of pediatric and adult patients.
骨外尤文肉瘤的临床人口统计学特征:儿童和成人患者的比较荟萃分析
J Orthop. 2023 Sep 9;44:86-92. doi: 10.1016/j.jor.2023.09.002. eCollection 2023 Oct.
4
Molecular and biologic biomarkers of Ewing sarcoma: A systematic review.尤因肉瘤的分子和生物学生物标志物:一项系统综述。
J Bone Oncol. 2023 Apr 26;40:100482. doi: 10.1016/j.jbo.2023.100482. eCollection 2023 Jun.
5
Extraosseous Ewing Sarcoma in Children: A Systematic Review and Meta-Analysis of Clinicodemographic Characteristics.儿童骨外尤文肉瘤:临床人口统计学特征的系统评价和荟萃分析
Children (Basel). 2022 Nov 29;9(12):1859. doi: 10.3390/children9121859.
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Ewing and Ewing-like sarcomas: A morphological guide through genetically-defined entities.尤文氏和尤文样肉瘤:通过基因定义实体的形态学指南。
Pathol Int. 2023 Jan;73(1):12-26. doi: 10.1111/pin.13293. Epub 2022 Dec 9.
7
Extraskeletal Ewing sarcoma: A case report.骨外尤文肉瘤:一例报告。
Radiol Case Rep. 2022 Oct 6;17(12):4809-4813. doi: 10.1016/j.radcr.2022.09.048. eCollection 2022 Dec.
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