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Ewing sarcoma(ES)

MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
Synonyms: ES; Ewing tumor; Ewing's sarcoma; Ewing's tumor
SNOMED CT: Ewing's sarcoma (76909002); Ewing's tumor (76909002); Ewing sarcoma (76909002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): EWSR1 (22q12.2)
 
HPO: HP:0012254
Monarch Initiative: MONDO:0012817
OMIM®: 612219
Orphanet: ORPHA319

Definition

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.

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.

It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow. [from MedlinePlus Genetics]

Clinical features

From HPO
Ewing sarcoma
MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
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.\n\nEwing 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.\n\nIt is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.

Conditions with this feature

Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Ewing sarcoma
MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
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.\n\nEwing 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.\n\nIt is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.

Professional guidelines

PubMed

Tsibulnikov S, Fayzullina D, Karlina I, Schroeder BA, Karpova O, Timashev P, Ulasov I
Cancer Gene Ther 2023 Aug;30(8):1066-1071. Epub 2023 Apr 10 doi: 10.1038/s41417-023-00615-0. PMID: 37037906Free PMC Article
Ferguson JL, Turner SP
Am Fam Physician 2018 Aug 15;98(4):205-213. PMID: 30215968
Ozaki T
J Orthop Sci 2015 Mar;20(2):250-63. Epub 2015 Feb 19 doi: 10.1007/s00776-014-0687-z. PMID: 25691401Free PMC Article

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2024

Recent clinical studies

Etiology

Visser LL, Bleijs M, Margaritis T, van de Wetering M, Holstege FCP, Clevers H
Cancer Res Commun 2023 Oct 24;3(10):2158-2169. doi: 10.1158/2767-9764.CRC-23-0027. PMID: 37823774Free PMC Article
Brennan B, Kirton L, Marec-Bérard P, Gaspar N, Laurence V, Martín-Broto J, Sastre A, Gelderblom H, Owens C, Fenwick N, Strauss S, Moroz V, Whelan J, Wheatley K
Lancet 2022 Oct 29;400(10362):1513-1521. doi: 10.1016/S0140-6736(22)01790-1. PMID: 36522207
Eaton BR, Claude L, Indelicato DJ, Vatner R, Yeh B, Schwarz R, Laack N
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28355. doi: 10.1002/pbc.28355. PMID: 33818887
Italiano A, Mir O, Mathoulin-Pelissier S, Penel N, Piperno-Neumann S, Bompas E, Chevreau C, Duffaud F, Entz-Werlé N, Saada E, Ray-Coquard I, Lervat C, Gaspar N, Marec-Berard P, Pacquement H, Wright J, Toulmonde M, Bessede A, Crombe A, Kind M, Bellera C, Blay JY
Lancet Oncol 2020 Mar;21(3):446-455. Epub 2020 Feb 17 doi: 10.1016/S1470-2045(19)30825-3. PMID: 32078813Free PMC Article
Grünewald TGP, Cidre-Aranaz F, Surdez D, Tomazou EM, de Álava E, Kovar H, Sorensen PH, Delattre O, Dirksen U
Nat Rev Dis Primers 2018 Jul 5;4(1):5. doi: 10.1038/s41572-018-0003-x. PMID: 29977059

Diagnosis

Setty BA, Gikandi A, DuBois SG
Paediatr Drugs 2023 Jul;25(4):389-397. Epub 2023 Apr 4 doi: 10.1007/s40272-023-00568-9. PMID: 37014523
Self C, MacQuarrie KL, Cost CR
Pediatr Rev 2022 May 1;43(5):256-265. doi: 10.1542/pir.2021-005065. PMID: 35490205
Sbaraglia M, Righi A, Gambarotti M, Dei Tos AP
Virchows Arch 2020 Jan;476(1):109-119. Epub 2019 Dec 4 doi: 10.1007/s00428-019-02720-8. PMID: 31802230
Ferguson JL, Turner SP
Am Fam Physician 2018 Aug 15;98(4):205-213. PMID: 30215968
Ozaki T
J Orthop Sci 2015 Mar;20(2):250-63. Epub 2015 Feb 19 doi: 10.1007/s00776-014-0687-z. PMID: 25691401Free PMC Article

Therapy

Tsibulnikov S, Fayzullina D, Karlina I, Schroeder BA, Karpova O, Timashev P, Ulasov I
Cancer Gene Ther 2023 Aug;30(8):1066-1071. Epub 2023 Apr 10 doi: 10.1038/s41417-023-00615-0. PMID: 37037906Free PMC Article
Brennan B, Kirton L, Marec-Bérard P, Gaspar N, Laurence V, Martín-Broto J, Sastre A, Gelderblom H, Owens C, Fenwick N, Strauss S, Moroz V, Whelan J, Wheatley K
Lancet 2022 Oct 29;400(10362):1513-1521. doi: 10.1016/S0140-6736(22)01790-1. PMID: 36522207
Leavey PJ, Laack NN, Krailo MD, Buxton A, Randall RL, DuBois SG, Reed DR, Grier HE, Hawkins DS, Pawel B, Nadel H, Womer RB, Letson GD, Bernstein M, Brown K, Maciej A, Chuba P, Ahmed AA, Indelicato DJ, Wang D, Marina N, Gorlick R, Janeway KA, Mascarenhas L
J Clin Oncol 2021 Dec 20;39(36):4029-4038. Epub 2021 Oct 15 doi: 10.1200/JCO.21.00358. PMID: 34652968Free PMC Article
Italiano A, Mir O, Mathoulin-Pelissier S, Penel N, Piperno-Neumann S, Bompas E, Chevreau C, Duffaud F, Entz-Werlé N, Saada E, Ray-Coquard I, Lervat C, Gaspar N, Marec-Berard P, Pacquement H, Wright J, Toulmonde M, Bessede A, Crombe A, Kind M, Bellera C, Blay JY
Lancet Oncol 2020 Mar;21(3):446-455. Epub 2020 Feb 17 doi: 10.1016/S1470-2045(19)30825-3. PMID: 32078813Free PMC Article
Anderton J, Moroz V, Marec-Bérard P, Gaspar N, Laurence V, Martín-Broto J, Sastre A, Gelderblom H, Owens C, Kaiser S, Fernández-Pinto M, Fenwick N, Evans A, Strauss S, Whelan J, Wheatley K, Brennan B
Trials 2020 Jan 17;21(1):96. doi: 10.1186/s13063-019-4026-8. PMID: 31952545Free PMC Article

Prognosis

Eaton BR, Claude L, Indelicato DJ, Vatner R, Yeh B, Schwarz R, Laack N
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28355. doi: 10.1002/pbc.28355. PMID: 33818887
Italiano A, Mir O, Mathoulin-Pelissier S, Penel N, Piperno-Neumann S, Bompas E, Chevreau C, Duffaud F, Entz-Werlé N, Saada E, Ray-Coquard I, Lervat C, Gaspar N, Marec-Berard P, Pacquement H, Wright J, Toulmonde M, Bessede A, Crombe A, Kind M, Bellera C, Blay JY
Lancet Oncol 2020 Mar;21(3):446-455. Epub 2020 Feb 17 doi: 10.1016/S1470-2045(19)30825-3. PMID: 32078813Free PMC Article
Antonescu CR, Owosho AA, Zhang L, Chen S, Deniz K, Huryn JM, Kao YC, Huang SC, Singer S, Tap W, Schaefer IM, Fletcher CD
Am J Surg Pathol 2017 Jul;41(7):941-949. doi: 10.1097/PAS.0000000000000846. PMID: 28346326Free PMC Article
Karosas AO
Am J Health Syst Pharm 2010 Oct 1;67(19):1599-605. doi: 10.2146/ajhp090526. PMID: 20852160
Meyers PA, Levy AS
Curr Treat Options Oncol 2000 Aug;1(3):247-57. doi: 10.1007/s11864-000-0036-7. PMID: 12057167

Clinical prediction guides

Hargiss JB, Labott JR, Broida SE, Rose PS, Barlow JD, Houdek MT
Anticancer Res 2022 Aug;42(8):3869-3872. doi: 10.21873/anticanres.15879. PMID: 35896233
Povedano JM, Li V, Lake KE, Bai X, Rallabandi R, Kim J, Xie Y, De Brabander JK, McFadden DG
Cell Chem Biol 2022 Aug 18;29(8):1325-1332.e4. Epub 2022 Jul 7 doi: 10.1016/j.chembiol.2022.06.002. PMID: 35803262Free PMC Article
Sole A, Grossetête S, Heintzé M, Babin L, Zaïdi S, Revy P, Renouf B, De Cian A, Giovannangeli C, Pierre-Eugène C, Janoueix-Lerosey I, Couronné L, Kaltenbach S, Tomishima M, Jasin M, Grünewald TGP, Delattre O, Surdez D, Brunet E
Cancer Res 2021 Oct 1;81(19):4994-5006. Epub 2021 Aug 2 doi: 10.1158/0008-5472.CAN-20-3837. PMID: 34341072Free PMC Article
Sbaraglia M, Righi A, Gambarotti M, Dei Tos AP
Virchows Arch 2020 Jan;476(1):109-119. Epub 2019 Dec 4 doi: 10.1007/s00428-019-02720-8. PMID: 31802230
Kao YC, Owosho AA, Sung YS, Zhang L, Fujisawa Y, Lee JC, Wexler L, Argani P, Swanson D, Dickson BC, Fletcher CDM, Antonescu CR
Am J Surg Pathol 2018 May;42(5):604-615. doi: 10.1097/PAS.0000000000000965. PMID: 29300189Free PMC Article

Recent systematic reviews

Spiguel MH, Schuch LF, Kovalski LN, Ribeiro JT, Só BB, Silveira FM, Vargas PA, Martins MAT, Zanella VG, Aleixo PB, Wagner VP, Martins MD
Oral Dis 2024 May;30(4):1784-1792. Epub 2023 Jul 1 doi: 10.1111/odi.14644. PMID: 37392420
Fedeli MA, Marras V, Fara AM, Deiana A, Lobrano R, Cossu A, Paliogiannis P
Ann Diagn Pathol 2023 Aug;65:152152. Epub 2023 Apr 29 doi: 10.1016/j.anndiagpath.2023.152152. PMID: 37149954
Kridis WB, Toumi N, Chaari H, Khanfir A, Ayadi K, Keskes H, Boudawara T, Daoud J, Frikha M
Rev Recent Clin Trials 2017;12(1):19-23. doi: 10.2174/1574887112666170120100147. PMID: 28117008
Machado I, Navarro S, Llombart-Bosch A
Histol Histopathol 2016 Nov;31(11):1169-81. Epub 2016 Jun 16 doi: 10.14670/HH-11-792. PMID: 27306060
Delaplace M, Lhommet C, de Pinieux G, Vergier B, de Muret A, Machet L
Br J Dermatol 2012 Apr;166(4):721-6. Epub 2012 Mar 5 doi: 10.1111/j.1365-2133.2011.10743.x. PMID: 22098102

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024
    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2024