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Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma

Ewing sarcoma (ES) is primarily recognized as a primary bone tumor; however, its extraosseous variant is exceptionally rare and presents unique clinical challenges. In this article, we report the case of a 22-year-old male who initially presented with abdominal swelling. Diagnostic tests included ab...

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Autores principales: Simões, Ana Margarida, Sequeira-Mendes, Joana, Santos, Ana Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685669/
https://www.ncbi.nlm.nih.gov/pubmed/38034204
http://dx.doi.org/10.7759/cureus.47961
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author Simões, Ana Margarida
Sequeira-Mendes, Joana
Santos, Ana Isabel
author_facet Simões, Ana Margarida
Sequeira-Mendes, Joana
Santos, Ana Isabel
author_sort Simões, Ana Margarida
collection PubMed
description Ewing sarcoma (ES) is primarily recognized as a primary bone tumor; however, its extraosseous variant is exceptionally rare and presents unique clinical challenges. In this article, we report the case of a 22-year-old male who initially presented with abdominal swelling. Diagnostic tests included abdominal imaging and a CT scan, revealing a solid liver mass. A thorough evaluation confirmed it to be an extraosseous ES, supported by liver biopsy and immunohistochemistry demonstrating positive expression for AE1/AE3 and CD-99, along with genetic analysis revealing a rearrangement of the EWSR1 gene (translocation 22q12). The patient’s treatment involved a multimodal approach, including perioperative chemotherapy, surgery, and postoperative chemotherapy, following which the patient remained in complete remission after 24 months. This case emphasizes the importance of considering rare malignancies such as ES in differential diagnoses for young patients with liver masses. It also accentuates the pivotal role of family physicians in early detection and holistic patient care, underscoring the need for comprehensive investigations when encountering persistent symptoms.
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spelling pubmed-106856692023-11-30 Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma Simões, Ana Margarida Sequeira-Mendes, Joana Santos, Ana Isabel Cureus Family/General Practice Ewing sarcoma (ES) is primarily recognized as a primary bone tumor; however, its extraosseous variant is exceptionally rare and presents unique clinical challenges. In this article, we report the case of a 22-year-old male who initially presented with abdominal swelling. Diagnostic tests included abdominal imaging and a CT scan, revealing a solid liver mass. A thorough evaluation confirmed it to be an extraosseous ES, supported by liver biopsy and immunohistochemistry demonstrating positive expression for AE1/AE3 and CD-99, along with genetic analysis revealing a rearrangement of the EWSR1 gene (translocation 22q12). The patient’s treatment involved a multimodal approach, including perioperative chemotherapy, surgery, and postoperative chemotherapy, following which the patient remained in complete remission after 24 months. This case emphasizes the importance of considering rare malignancies such as ES in differential diagnoses for young patients with liver masses. It also accentuates the pivotal role of family physicians in early detection and holistic patient care, underscoring the need for comprehensive investigations when encountering persistent symptoms. Cureus 2023-10-30 /pmc/articles/PMC10685669/ /pubmed/38034204 http://dx.doi.org/10.7759/cureus.47961 Text en Copyright © 2023, Simões et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Family/General Practice
Simões, Ana Margarida
Sequeira-Mendes, Joana
Santos, Ana Isabel
Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma
title Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma
title_full Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma
title_fullStr Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma
title_full_unstemmed Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma
title_short Beyond the Bones: A Case Report of Extraosseous Ewing Sarcoma
title_sort beyond the bones: a case report of extraosseous ewing sarcoma
topic Family/General Practice
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685669/
https://www.ncbi.nlm.nih.gov/pubmed/38034204
http://dx.doi.org/10.7759/cureus.47961
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