U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

EWSR1 Gene Rearrangement

MedGen UID:
1715399
•Concept ID:
C5212358
•
Cell or Molecular Dysfunction
Synonyms: Ewing Sarcoma Breakpoint Region 1 Gene Rearrangement; Ewing's Sarcoma Gene Rearrangement; EWS Gene Rearrangement; EWS Rearrangement; EWSR1 Rearrangement

Definition

A molecular abnormality indicating rearrangement of the EWSR1 gene. [from NCI]

Professional guidelines

PubMed

Primary Ewing's sarcoma with orbit involvement: Survival and visual outcomes after eye-sparing multidisciplinary management in eight patients.
Koka K, Rahim FE, El-Hadad C, Bell D, Debnam JM, Guo Y, Esmaeli B
Head Neck 2021 Dec;43(12):3857-3865. Epub 2021 Oct 10 doi: 10.1002/hed.26884. PMID: 34632670
Clinicopathologic, immunohistochemical, molecular cytogenetic profile with treatment and outcomes of 34 cases of Ewing sarcoma with epithelial differentiation, including 6 cases with "Adamantinoma-like" features, diagnosed at a single institution, India.
Rekhi B, Shetty O, Vora T, Gulia A, Bajpai J, Laskar S
Ann Diagn Pathol 2020 Dec;49:151625. Epub 2020 Sep 9 doi: 10.1016/j.anndiagpath.2020.151625. PMID: 32932018
Adamantinoma-like Ewing family tumors of the head and neck: a pitfall in the differential diagnosis of basaloid and myoepithelial carcinomas.
Bishop JA, Alaggio R, Zhang L, Seethala RR, Antonescu CR
Am J Surg Pathol 2015 Sep;39(9):1267-74. doi: 10.1097/PAS.0000000000000460. PMID: 26034869Free PMC Article

Recent clinical studies

Etiology

Primary Pulmonary Hyalinizing Clear Cell Carcinoma: Case Series With Review of Literature.
Thakur S, Nambirajan A, Larsen BT, Butt YM, Roden AC, Kumar S, Jain D
Int J Surg Pathol 2023 Oct;31(7):1187-1194. Epub 2022 Dec 13 doi: 10.1177/10668969221137516. PMID: 36514272
EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype.
Kovacevic B, Caramelo A, Skuletic V, Cerovic S, Eloy C
Bosn J Basic Med Sci 2022 Feb 1;22(1):54-63. doi: 10.17305/bjbms.2021.6181. PMID: 34374640Free PMC Article
EWSR1 Rearrangement and CD99 Expression as Diagnostic Biomarkers for Ewing/PNET Sarcomas in a Moroccan Population.
Louati S, Senhaji N, Chbani L, Bennis S
Dis Markers 2018;2018:7971019. Epub 2018 Sep 18 doi: 10.1155/2018/7971019. PMID: 30319719Free PMC Article
Ectomesenchymal Chondromyxoid Tumor: A Neoplasm Characterized by Recurrent RREB1-MKL2 Fusions.
Dickson BC, Antonescu CR, Argyris PP, Bilodeau EA, Bullock MJ, Freedman PD, Gnepp DR, Jordan RC, Koutlas IG, Lee CH, Leong I, Merzianu M, Purgina BM, Thompson LDR, Wehrli B, Wright JM, Swanson D, Zhang L, Bishop JA
Am J Surg Pathol 2018 Oct;42(10):1297-1305. doi: 10.1097/PAS.0000000000001096. PMID: 29912715Free PMC Article
Clinicopathological and molecular spectrum of ewing sarcomas/PNETs, including validation of EWSR1 rearrangement by conventional and array FISH technique in certain cases.
Rekhi B, Vogel U, Basak R, Desai SB, Jambhekar NA
Pathol Oncol Res 2014 Jul;20(3):503-16. Epub 2013 Nov 30 doi: 10.1007/s12253-013-9721-2. PMID: 24293381

Diagnosis

Primary Pulmonary Hyalinizing Clear Cell Carcinoma: Case Series With Review of Literature.
Thakur S, Nambirajan A, Larsen BT, Butt YM, Roden AC, Kumar S, Jain D
Int J Surg Pathol 2023 Oct;31(7):1187-1194. Epub 2022 Dec 13 doi: 10.1177/10668969221137516. PMID: 36514272
A unique case of adamantinoma-like Ewing sarcoma in the calcaneus, exhibiting prominent squamous differentiation and displaying EWSR1 gene rearrangement.
Rekhi B, Kothari R, Shah S, Shetty O, Shah MC
Skeletal Radiol 2022 Jan;51(1):209-217. Epub 2021 Jun 10 doi: 10.1007/s00256-021-03831-7. PMID: 34110448
Molecular Profiling of Clear Cell Myoepithelial Carcinoma of Salivary Glands With EWSR1 Rearrangement Identifies Frequent PLAG1 Gene Fusions But No EWSR1 Fusion Transcripts.
Skálová A, Agaimy A, Vanecek T, Baněčková M, Laco J, Ptáková N, Šteiner P, Majewska H, Biernat W, Corcione L, Eis V, Koshyk O, Vondrák J Jr, Michal M, Leivo I
Am J Surg Pathol 2021 Jan;45(1):1-13. doi: 10.1097/PAS.0000000000001591. PMID: 33027073
EWSR1 Rearrangement and CD99 Expression as Diagnostic Biomarkers for Ewing/PNET Sarcomas in a Moroccan Population.
Louati S, Senhaji N, Chbani L, Bennis S
Dis Markers 2018;2018:7971019. Epub 2018 Sep 18 doi: 10.1155/2018/7971019. PMID: 30319719Free PMC Article
Advances in the clinicopathological and molecular classification of cutaneous mesenchymal neoplasms.
Costigan DC, Doyle LA
Histopathology 2016 May;68(6):776-95. Epub 2016 Mar 1 doi: 10.1111/his.12930. PMID: 26763770

Therapy

Molecular Profiling of Clear Cell Myoepithelial Carcinoma of Salivary Glands With EWSR1 Rearrangement Identifies Frequent PLAG1 Gene Fusions But No EWSR1 Fusion Transcripts.
Skálová A, Agaimy A, Vanecek T, Baněčková M, Laco J, Ptáková N, Šteiner P, Majewska H, Biernat W, Corcione L, Eis V, Koshyk O, Vondrák J Jr, Michal M, Leivo I
Am J Surg Pathol 2021 Jan;45(1):1-13. doi: 10.1097/PAS.0000000000001591. PMID: 33027073
Activity and safety of crizotinib in patients with advanced clear-cell sarcoma with MET alterations: European Organization for Research and Treatment of Cancer phase II trial 90101 'CREATE'.
Schöffski P, Wozniak A, Stacchiotti S, Rutkowski P, Blay JY, Lindner LH, Strauss SJ, Anthoney A, Duffaud F, Richter S, Grünwald V, Leahy MG, Reichardt P, Sufliarsky J, van der Graaf WT, Sciot R, Debiec-Rychter M, van Cann T, Marréaud S, Lia M, Raveloarivahy T, Collette L, Bauer S
Ann Oncol 2017 Dec 1;28(12):3000-3008. doi: 10.1093/annonc/mdx527. PMID: 28950372Free PMC Article
Ewing's sarcoma/primitive neuroectodermal tumor arising from the adrenal gland: a case report and literature review.
Sasaki T, Onishi T, Yabana T, Hoshina A
Tumori 2013 May-Jun;99(3):e104-6. doi: 10.1177/030089161309900326. PMID: 24158076
Primary myoepithelioma of bone: a report of 8 cases.
Kurzawa P, Kattapuram S, Hornicek FJ, Antonescu CR, Rosenberg AE, Nielsen GP
Am J Surg Pathol 2013 Jul;37(7):960-8. doi: 10.1097/PAS.0b013e3182858a0e. PMID: 23681076

Prognosis

Distinct clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma: A report of four new cases and review of the literature.
Wang Z, Zhang L, Ren L, Liu D, Du J, Zhang M, Lou G, Song Y, Wang Y, Wu C, Han G
Thorac Cancer 2021 Feb;12(3):314-323. Epub 2020 Dec 12 doi: 10.1111/1759-7714.13727. PMID: 33314685Free PMC Article
Sclerosing Epithelioid Fibrosarcoma: A Distinct Sarcoma With Aggressive Features.
Warmke LM, Meis JM
Am J Surg Pathol 2021 Mar 1;45(3):317-328. doi: 10.1097/PAS.0000000000001559. PMID: 32769431
Advances in the clinicopathological and molecular classification of cutaneous mesenchymal neoplasms.
Costigan DC, Doyle LA
Histopathology 2016 May;68(6):776-95. Epub 2016 Mar 1 doi: 10.1111/his.12930. PMID: 26763770
Clinicopathological and molecular spectrum of ewing sarcomas/PNETs, including validation of EWSR1 rearrangement by conventional and array FISH technique in certain cases.
Rekhi B, Vogel U, Basak R, Desai SB, Jambhekar NA
Pathol Oncol Res 2014 Jul;20(3):503-16. Epub 2013 Nov 30 doi: 10.1007/s12253-013-9721-2. PMID: 24293381
Angiomatoid fibrous histiocytoma: clinicopathological and molecular characterisation with emphasis on variant histomorphology.
Kao YC, Lan J, Tai HC, Li CF, Liu KW, Tsai JW, Fang FM, Yu SC, Huang HY
J Clin Pathol 2014 Mar;67(3):210-5. Epub 2013 Sep 16 doi: 10.1136/jclinpath-2013-201857. PMID: 24043718

Clinical prediction guides

Distinct clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma: A report of four new cases and review of the literature.
Wang Z, Zhang L, Ren L, Liu D, Du J, Zhang M, Lou G, Song Y, Wang Y, Wu C, Han G
Thorac Cancer 2021 Feb;12(3):314-323. Epub 2020 Dec 12 doi: 10.1111/1759-7714.13727. PMID: 33314685Free PMC Article
Malignant gastrointestinal neuroectodermal tumor: a case report and review of the literature.
Alyousef MJ, Alratroot JA, ElSharkawy T, Shawarby MA, Al Hamad MA, Hashem TM, Alsayyah A
Diagn Pathol 2017 Mar 20;12(1):29. doi: 10.1186/s13000-017-0620-9. PMID: 28320420Free PMC Article
Nasopharyngeal hyalinizing clear cell carcinoma: report of the histopathologic features of a case showing EWSR1 rearrangements by FISH and literature review.
Ceballos Sáenz C, Argyris PP, Manivel JC, Urias Barreras CM, Koutlas IG
Int J Surg Pathol 2014 Oct;22(7):667-72. Epub 2014 Mar 11 doi: 10.1177/1066896914526778. PMID: 24619014
Angiomatoid fibrous histiocytoma: clinicopathological and molecular characterisation with emphasis on variant histomorphology.
Kao YC, Lan J, Tai HC, Li CF, Liu KW, Tsai JW, Fang FM, Yu SC, Huang HY
J Clin Pathol 2014 Mar;67(3):210-5. Epub 2013 Sep 16 doi: 10.1136/jclinpath-2013-201857. PMID: 24043718
Primary intraosseous myoepithelioma arising in the iliac bone and displaying trisomies of 11, 15, 17 with del (16q) and del (22q11)--A rare case report with review of literature.
Rekhi B, Amare P, Gulia A, Baisane C, Patil A, Agarwal S, Puri A, Jambhekar NA
Pathol Res Pract 2011 Dec 15;207(12):780-5. Epub 2011 Nov 3 doi: 10.1016/j.prp.2011.09.004. PMID: 22054860

Supplemental Content

Table of contents

    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.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...