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Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion

Low-grade fibromyxoid sarcoma (LGFMS) is a rare subclass of sarcoma. Histologically, they are characterized by bland-appearing fibroblastic spindle cells and are similar to sclerosing epithelioid fibrosarcoma (SEF) subtype. The standard treatment of this aggressive tumor subtype is surgical removal...

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Autores principales: Williams, Chelsey M, Du, Wei, Mangano, William E, Mei, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273027/
https://www.ncbi.nlm.nih.gov/pubmed/34277226
http://dx.doi.org/10.7759/cureus.15606
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author Williams, Chelsey M
Du, Wei
Mangano, William E
Mei, Lin
author_facet Williams, Chelsey M
Du, Wei
Mangano, William E
Mei, Lin
author_sort Williams, Chelsey M
collection PubMed
description Low-grade fibromyxoid sarcoma (LGFMS) is a rare subclass of sarcoma. Histologically, they are characterized by bland-appearing fibroblastic spindle cells and are similar to sclerosing epithelioid fibrosarcoma (SEF) subtype. The standard treatment of this aggressive tumor subtype is surgical removal with wide excision in conjunction with doxorubicin chemotherapy. Due to the rarity of this disease, effective systemic therapies are lacking and patient outcomes remain poor. Herein, we report on a 50-year-old male who presented with severe shortness of breath. Subsequent imaging revealed pericardial effusion and large mediastinal mass consistent with locally advanced disease. Fine needle biopsy demonstrated malignant, Ewing-like round tumor cells. Further genetic analysis affirmed the presence of FUS-CREB3L2 gene fusion. The patient was treated with doxorubicin and survival time from the initial presentation was five months. To date, there are limited reports of this disease. Few targeted therapies or immunotherapies for LGFMS exist, and a dire need for new therapy development remains.
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spelling pubmed-82730272021-07-16 Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion Williams, Chelsey M Du, Wei Mangano, William E Mei, Lin Cureus Genetics Low-grade fibromyxoid sarcoma (LGFMS) is a rare subclass of sarcoma. Histologically, they are characterized by bland-appearing fibroblastic spindle cells and are similar to sclerosing epithelioid fibrosarcoma (SEF) subtype. The standard treatment of this aggressive tumor subtype is surgical removal with wide excision in conjunction with doxorubicin chemotherapy. Due to the rarity of this disease, effective systemic therapies are lacking and patient outcomes remain poor. Herein, we report on a 50-year-old male who presented with severe shortness of breath. Subsequent imaging revealed pericardial effusion and large mediastinal mass consistent with locally advanced disease. Fine needle biopsy demonstrated malignant, Ewing-like round tumor cells. Further genetic analysis affirmed the presence of FUS-CREB3L2 gene fusion. The patient was treated with doxorubicin and survival time from the initial presentation was five months. To date, there are limited reports of this disease. Few targeted therapies or immunotherapies for LGFMS exist, and a dire need for new therapy development remains. Cureus 2021-06-11 /pmc/articles/PMC8273027/ /pubmed/34277226 http://dx.doi.org/10.7759/cureus.15606 Text en Copyright © 2021, Williams 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 Genetics
Williams, Chelsey M
Du, Wei
Mangano, William E
Mei, Lin
Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion
title Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion
title_full Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion
title_fullStr Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion
title_full_unstemmed Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion
title_short Mediastinal Low-Grade Fibromyxoid Sarcoma With FUS-CREB3L2 Gene Fusion
title_sort mediastinal low-grade fibromyxoid sarcoma with fus-creb3l2 gene fusion
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273027/
https://www.ncbi.nlm.nih.gov/pubmed/34277226
http://dx.doi.org/10.7759/cureus.15606
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