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<span>Ewing sarcoma</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/ewing-sarcoma/</span>
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<article>
<div class="page-info">
<div class="page-title">
<a name="start" id="start"></a>
<h1>Ewing sarcoma</h1>
</div>
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<noscript><span class="js-disabled-message">To use the sharing features on this page, please enable JavaScript.</span></noscript>
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<div class="main">
<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.</p><p>Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.</p><p>It is common for Ewing sarcoma to spread to other parts of the body (<a class="image-modal" data-alt="Diagram showing cancer cells carried in the bloodstream escaping from a blood vessel and multiplying" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0001CS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001CS" data-sourceurl="" data-title="Cancer metastasis" href="https://medlineplus.gov/images/PX0001CS_PRESENTATION.jpeg" id="PX0001CS_1" title="Show image">metastasize<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), usually to the lungs, to other bones, or to the bone marrow.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Approximately 3 per 1 million children each year are diagnosed with a Ewing sarcoma. It is estimated that, in the United States, 250 children are diagnosed with one of these types of tumor each year. Ewing sarcoma accounts for about 1.5 percent of all childhood cancers, and it is the second most common type of bone tumor in children (the most common type of bone cancer is called osteosarcoma).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>The most common mutation that causes Ewing sarcoma involves two genes, the <em><a data-pid="18919" href="https://medlineplus.gov/genetics/gene/ewsr1/">EWSR1</a></em> gene on <a data-pid="20073" href="https://medlineplus.gov/genetics/chromosome/22/">chromosome 22</a> and the <em><a data-pid="18921" href="https://medlineplus.gov/genetics/gene/fli1/">FLI1</a></em> gene on <a data-pid="20051" href="https://medlineplus.gov/genetics/chromosome/11/">chromosome 11</a>. A rearrangement (translocation) of genetic material between chromosomes 22 and 11, written as t(11;22), fuses part of the <em>EWSR1</em> gene with part of the <em>FLI1</em> gene, creating the <em>EWSR1/FLI1</em> fusion gene. This mutation is acquired during a person's lifetime and is present only in tumor cells. This type of genetic change, called a somatic mutation, is not inherited.</p><p>The protein produced from the <em>EWSR1/FLI1</em> fusion gene, called EWS/FLI, has functions of the protein products of both genes. The FLI protein, produced from the <em>FLI1</em> gene, attaches (binds) to DNA and regulates an activity called <a class="image-modal" data-alt="DNA is transcribed into mRNA, which is transported into the cell cytoplasm and translated into a protein." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00008S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00008S" data-sourceurl="" data-title="Through the processes of transcription and translation, information from genes is used to make proteins.
" href="https://medlineplus.gov/images/PX00008S_PRESENTATION.jpeg" id="PX00008S_5" title="Show image">transcription<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is the first step in the production of proteins from genes. The FLI protein controls the growth and development of some cell types by regulating the transcription of certain genes. The EWS protein, produced from the <em>EWSR1</em> gene, also regulates transcription. The EWS/FLI protein has the DNA-binding function of the FLI protein as well as the transcription regulation function of the EWS protein. It is thought that the EWS/FLI protein turns the transcription of a variety of genes on and off abnormally. This dysregulation of transcription leads to uncontrolled growth and division (proliferation) and abnormal maturation and survival of cells, causing tumor development.</p><p>The <em>EWSR1/FLI1</em> fusion gene occurs in approximately 85 percent of Ewing sarcomas. Translocations that fuse the <em>EWSR1</em> gene with other genes that are related to the <em>FLI1</em> gene can also cause these types of tumors, although these alternative translocations are relatively uncommon. The fusion proteins produced from the less common gene translocations have the same function as the EWS/FLI protein.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes and chromosomes associated with Ewing sarcoma</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/ewsr1/">EWSR1</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/fli1/">FLI1</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/fus/">FUS</a></li>
<li><a href="https://medlineplus.gov/genetics/chromosome/11/">chromosome 11</a></li>
<li><a href="https://medlineplus.gov/genetics/chromosome/22/">chromosome 22</a></li>
</ul>
<p><strong>Additional Information from NCBI Gene:</strong></p>
<ul class="relatedmp">
<li><a href="https://www.ncbi.nlm.nih.gov/gene/2078" target="TheNewWin">ERG</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/2115" target="TheNewWin">ETV1</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/2118" target="TheNewWin">ETV4</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/54738" target="TheNewWin">FEV</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Ewing family of tumors</li> <li>Ewing tumor</li> <li>Ewing&#x27;s sarcoma</li> <li>Ewing&#x27;s tumor</li> <li>Tumor of the Ewing family</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0553580/" target="TheNewWin">Genetic Testing Registry: Ewing sarcoma</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/6390/index" target="TheNewWin">Skeletal Ewing sarcoma</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Ewing sarcoma%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/612219" target="TheNewWin">EWING SARCOMA; ES</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Sarcoma,+Ewing&#x27;s%5BMAJR%5D%29+AND+%28Ewing+sarcoma%5BTI%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+360+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Bailly RA, Bosselut R, Zucman J, Cormier F, Delattre O, Roussel M, Thomas G,
Ghysdael J. DNA-binding and transcriptional activation properties of the
EWS-FLI-1 fusion protein resulting from the t(11;22) translocation in Ewing
sarcoma. Mol Cell Biol. 1994 May;14(5):3230-41. doi:
10.1128/mcb.14.5.3230-3241.1994. <a href="https://pubmed.ncbi.nlm.nih.gov/8164678" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC358690/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Bertolotti A, Melot T, Acker J, Vigneron M, Delattre O, Tora L. EWS, but not
EWS-FLI-1, is associated with both TFIID and RNA polymerase II: interactions
between two members of the TET family, EWS and hTAFII68, and subunits of TFIID
and RNA polymerase II complexes. Mol Cell Biol. 1998 Mar;18(3):1489-97. doi:
10.1128/MCB.18.3.1489. <a href="https://pubmed.ncbi.nlm.nih.gov/9488465" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC108863/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Kim SK, Park YK. Ewing sarcoma: a chronicle of molecular pathogenesis. Hum
Pathol. 2016 Sep;55:91-100. doi: 10.1016/j.humpath.2016.05.008. Epub 2016 May 28.
<a href="https://pubmed.ncbi.nlm.nih.gov/27246176" target="TheNewWin">Citation on PubMed</a></li>
<li>Mao X, Miesfeldt S, Yang H, Leiden JM, Thompson CB. The FLI-1 and chimeric
EWS-FLI-1 oncoproteins display similar DNA binding specificities. J Biol Chem.
1994 Jul 8;269(27):18216-22. <a href="https://pubmed.ncbi.nlm.nih.gov/7517940" target="TheNewWin">Citation on PubMed</a></li>
<li>May WA, Gishizky ML, Lessnick SL, Lunsford LB, Lewis BC, Delattre O, Zucman J,
Thomas G, Denny CT. Ewing sarcoma 11;22 translocation produces a chimeric
transcription factor that requires the DNA-binding domain encoded by FLI1 for
transformation. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5752-6. doi:
10.1073/pnas.90.12.5752. <a href="https://pubmed.ncbi.nlm.nih.gov/8516324" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC46800/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>May WA, Lessnick SL, Braun BS, Klemsz M, Lewis BC, Lunsford LB, Hromas R,
Denny CT. The Ewing&#x27;s sarcoma EWS/FLI-1 fusion gene encodes a more potent
transcriptional activator and is a more powerful transforming gene than FLI-1.
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