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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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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. |
format | Online Article Text |
id | pubmed-10685669 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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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