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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

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
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
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

Karabulut B, Yukruk FA, Yenidunya S, Kandemir O, Kosemehmetoglu K
Ann Diagn Pathol 2024 Oct;72:152320. Epub 2024 Apr 27 doi: 10.1016/j.anndiagpath.2024.152320. PMID: 38703529
Koshyk O, Dehner CA, van den Hout MFCM, Bempt IV, Sciot R, Huang HY, Agaimy A, Din NU, Klubíčková N, Mosaieby E, Skálová A, Michalová K, Schöffski P, Oliveira AM, Halling KC, Gupta S, Gross JM, Nin JWM, Michal M, Folpe AL, Kosemehmetoglu K, Torres-Mora J, Michal M
Mod Pathol 2023 Dec;36(12):100337. Epub 2023 Sep 22 doi: 10.1016/j.modpat.2023.100337. PMID: 37742928
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
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
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

Diagnosis

Karabulut B, Yukruk FA, Yenidunya S, Kandemir O, Kosemehmetoglu K
Ann Diagn Pathol 2024 Oct;72:152320. Epub 2024 Apr 27 doi: 10.1016/j.anndiagpath.2024.152320. PMID: 38703529
Warmke LM, Yu W, Meis JM
Surg Pathol Clin 2024 Mar;17(1):119-139. Epub 2023 Aug 5 doi: 10.1016/j.path.2023.06.009. PMID: 38278601
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
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
Costigan DC, Doyle LA
Histopathology 2016 May;68(6):776-95. Epub 2016 Mar 1 doi: 10.1111/his.12930. PMID: 26763770

Therapy

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
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
Sasaki T, Onishi T, Yabana T, Hoshina A
Tumori 2013 May-Jun;99(3):e104-6. doi: 10.1177/030089161309900326. PMID: 24158076
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

Warmke LM, Meis JM
Am J Surg Pathol 2021 Mar 1;45(3):317-328. doi: 10.1097/PAS.0000000000001559. PMID: 32769431
Costigan DC, Doyle LA
Histopathology 2016 May;68(6):776-95. Epub 2016 Mar 1 doi: 10.1111/his.12930. PMID: 26763770
Thway K, Ng W, Benson C, Chapman J, Fisher C
Int J Surg Pathol 2015 Sep;23(6):454-60. Epub 2015 Jul 1 doi: 10.1177/1066896915593801. PMID: 26135531
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
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

Liu L, Li L, Ding Y, Kong F, Mo W, Ye H, Shen D
Diagn Pathol 2024 Jan 22;19(1):19. doi: 10.1186/s13000-024-01443-y. PMID: 38254207Free PMC Article
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
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
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
Debelenko LV, McGregor LM, Shivakumar BR, Dorfman HD, Raimondi SC
Genes Chromosomes Cancer 2011 Dec;50(12):1054-62. Epub 2011 Aug 24 doi: 10.1002/gcc.20923. PMID: 21987447

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