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EWSR1 Gene Translocation

MedGen UID:
927133
•Concept ID:
C4289601
•
Cell or Molecular Dysfunction
Synonyms: Ewing Sarcoma Breakpoint Region 1 Gene Translocation; Ewing's Sarcoma Gene Translocation Mutation; EWS Gene Translocation; EWS Translocation; EWSR1 Translocation

Definition

A cytogenetic abnormality that refers to a translocation involving the EWSR1 gene. [from NCI]

Professional guidelines

PubMed

Utility of Immunohistochemistry With Antibodies to SS18-SSX Chimeric Proteins and C-Terminus of SSX Protein for Synovial Sarcoma Differential Diagnosis.
Lasota J, Chłopek M, Kaczorowski M, Natálie K, Ryś J, Kopczyński J, Sulaieva O, Michal M, Kruczak A, Harazin-Lechowska A, Szczepaniak M, Koshyk O, Hałoń A, Czapiewski P, Abdullaev Z, Kowalik A, Aldape KD, Michal M, Miettinen M
Am J Surg Pathol 2024 Jan 1;48(1):97-105. Epub 2023 Oct 27 doi: 10.1097/PAS.0000000000002144. PMID: 37899499
The current management of clear cell sarcoma.
Ikuta K, Nishida Y, Imagama S, Tanaka K, Ozaki T
Jpn J Clin Oncol 2023 Oct 4;53(10):899-904. doi: 10.1093/jjco/hyad083. PMID: 37451697
The Role of Molecular Testing in the Differential Diagnosis of Salivary Gland Carcinomas.
Skálová A, Stenman G, Simpson RHW, Hellquist H, Slouka D, Svoboda T, Bishop JA, Hunt JL, Nibu KI, Rinaldo A, Vander Poorten V, Devaney KO, Steiner P, Ferlito A
Am J Surg Pathol 2018 Feb;42(2):e11-e27. doi: 10.1097/PAS.0000000000000980. PMID: 29076877

Recent clinical studies

Etiology

Systemic treatment of malignant gastrointestinal neuroectodermal tumour after childhood neuroblastoma: chemotherapy in malignant gastrointestinal neuroectodermal tumour.
Ottaviano M, Maddalena C, D'Armiento M, Lauria R, D'Alessandro V, Tortora M, Matano E, Di Lauro V, Mucci B, Ferraro G, De Placido S, Giuliano M, Palmieri G
Anticancer Drugs 2019 Oct;30(9):959-963. doi: 10.1097/CAD.0000000000000806. PMID: 31517734

Diagnosis

Primary sinonasal Ewing sarcoma: A case report.
Amri MF, Abdullah A, Azmi MI, Mohd Zaki F, Md Pauzi SH
Malays J Pathol 2021 Aug;43(2):319-325. PMID: 34448796
Extraskeletal, intradural, non-metastatic Ewing's sarcoma. Case report.
Ottóffy G, Komáromy H
Ideggyogy Sz 2020 Jul 30;73(7-08):286-288. doi: 10.18071/isz.73.0268. PMID: 32750246
Systemic treatment of malignant gastrointestinal neuroectodermal tumour after childhood neuroblastoma: chemotherapy in malignant gastrointestinal neuroectodermal tumour.
Ottaviano M, Maddalena C, D'Armiento M, Lauria R, D'Alessandro V, Tortora M, Matano E, Di Lauro V, Mucci B, Ferraro G, De Placido S, Giuliano M, Palmieri G
Anticancer Drugs 2019 Oct;30(9):959-963. doi: 10.1097/CAD.0000000000000806. PMID: 31517734
CIC-DUX4 sarcoma diagnosed by fine-needle aspiration cytology: A case report.
Tang S, Dodd LG
Diagn Cytopathol 2018 Nov;46(11):958-963. Epub 2018 Oct 24 doi: 10.1002/dc.24027. PMID: 30353686
Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland.
Zhang L, Jia Z, Mao F, Shi Y, Bu RF, Zhang B
Oncol Rep 2016 Jun;35(6):3349-56. Epub 2016 Apr 8 doi: 10.3892/or.2016.4738. PMID: 27109316

Therapy

Systemic treatment of malignant gastrointestinal neuroectodermal tumour after childhood neuroblastoma: chemotherapy in malignant gastrointestinal neuroectodermal tumour.
Ottaviano M, Maddalena C, D'Armiento M, Lauria R, D'Alessandro V, Tortora M, Matano E, Di Lauro V, Mucci B, Ferraro G, De Placido S, Giuliano M, Palmieri G
Anticancer Drugs 2019 Oct;30(9):959-963. doi: 10.1097/CAD.0000000000000806. PMID: 31517734

Prognosis

Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland.
Zhang L, Jia Z, Mao F, Shi Y, Bu RF, Zhang B
Oncol Rep 2016 Jun;35(6):3349-56. Epub 2016 Apr 8 doi: 10.3892/or.2016.4738. PMID: 27109316

Clinical prediction guides

Extraskeletal, intradural, non-metastatic Ewing's sarcoma. Case report.
Ottóffy G, Komáromy H
Ideggyogy Sz 2020 Jul 30;73(7-08):286-288. doi: 10.18071/isz.73.0268. PMID: 32750246
Tigroid background in cytology of hyalinizing clear cell carcinoma of the salivary gland.
Yuan CT, Hsieh MS
Diagn Cytopathol 2016 Apr;44(4):338-41. Epub 2015 Dec 30 doi: 10.1002/dc.23423. PMID: 26715185

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