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EWSR1-negative small round cell tumor

MedGen UID:
1714743
•Concept ID:
C5237359
•
Neoplastic Process
Synonyms: EWSR1-Negative Small Blue Round Cell Tumor; EWSR1-Negative Small Cell Sarcoma; EWSR1-Negative Small Round Cell Tumor
 
Monarch Initiative: MONDO:0858921

Definition

A high-grade sarcoma characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEWSR1-negative small round cell tumor

Recent clinical studies

Etiology

PET-CT imaging features that differentiate between positive and negative EWSR1 translocation in Ewing sarcoma.
Soffer S, Amitai MM, Weizen R, Retter A, Barshack I, Shimon O, Davidson T, Klang E
Nucl Med Commun 2019 Aug;40(8):827-834. doi: 10.1097/MNM.0000000000001031. PMID: 31107830
ETV transcriptional upregulation is more reliable than RNA sequencing algorithms and FISH in diagnosing round cell sarcomas with CIC gene rearrangements.
Kao YC, Sung YS, Chen CL, Zhang L, Dickson BC, Swanson D, Vaiyapuri S, Latif F, Alholle A, Huang SC, Hornick JL, Antonescu CR
Genes Chromosomes Cancer 2017 Jun;56(6):501-510. Epub 2017 Mar 31 doi: 10.1002/gcc.22454. PMID: 28233365Free PMC Article
BCOR Overexpression Is a Highly Sensitive Marker in Round Cell Sarcomas With BCOR Genetic Abnormalities.
Kao YC, Sung YS, Zhang L, Jungbluth AA, Huang SC, Argani P, Agaram NP, Zin A, Alaggio R, Antonescu CR
Am J Surg Pathol 2016 Dec;40(12):1670-1678. doi: 10.1097/PAS.0000000000000697. PMID: 27428733Free PMC Article
Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas.
Specht K, Zhang L, Sung YS, Nucci M, Dry S, Vaiyapuri S, Richter GH, Fletcher CD, Antonescu CR
Am J Surg Pathol 2016 Apr;40(4):433-42. doi: 10.1097/PAS.0000000000000591. PMID: 26752546Free PMC Article
Round cell sarcomas beyond Ewing: emerging entities.
Antonescu C
Histopathology 2014 Jan;64(1):26-37. Epub 2013 Nov 12 doi: 10.1111/his.12281. PMID: 24215322

Diagnosis

Adamantinoma-like Ewing Sarcoma (ALES) May Harbor FUS Rearrangements : A Potential Diagnostic Pitfall.
Palsgrove DN, Foss RD, Yu W, Garcia J, Rooper LM, Rekhtman N, Antonescu C, Gagan J, Agaimy A, Bishop JA
Am J Surg Pathol 2023 Nov 1;47(11):1243-1251. Epub 2023 Jul 27 doi: 10.1097/PAS.0000000000002100. PMID: 37494548
PET-CT imaging features that differentiate between positive and negative EWSR1 translocation in Ewing sarcoma.
Soffer S, Amitai MM, Weizen R, Retter A, Barshack I, Shimon O, Davidson T, Klang E
Nucl Med Commun 2019 Aug;40(8):827-834. doi: 10.1097/MNM.0000000000001031. PMID: 31107830
Round cell sarcomas beyond Ewing: emerging entities.
Antonescu C
Histopathology 2014 Jan;64(1):26-37. Epub 2013 Nov 12 doi: 10.1111/his.12281. PMID: 24215322
Superficial EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion: a new variant of Ewing-like tumors with locoregional lymph node metastasis.
Machado I, Cruz J, Lavernia J, Rubio L, Campos J, Barrios M, Grison C, Chene V, Pierron G, Delattre O, Llombart-Bosch A
Virchows Arch 2013 Dec;463(6):837-42. Epub 2013 Nov 10 doi: 10.1007/s00428-013-1499-9. PMID: 24213312
High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.
Italiano A, Sung YS, Zhang L, Singer S, Maki RG, Coindre JM, Antonescu CR
Genes Chromosomes Cancer 2012 Mar;51(3):207-18. Epub 2011 Nov 10 doi: 10.1002/gcc.20945. PMID: 22072439Free PMC Article

Therapy

High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.
Italiano A, Sung YS, Zhang L, Singer S, Maki RG, Coindre JM, Antonescu CR
Genes Chromosomes Cancer 2012 Mar;51(3):207-18. Epub 2011 Nov 10 doi: 10.1002/gcc.20945. PMID: 22072439Free PMC Article

Prognosis

PET-CT imaging features that differentiate between positive and negative EWSR1 translocation in Ewing sarcoma.
Soffer S, Amitai MM, Weizen R, Retter A, Barshack I, Shimon O, Davidson T, Klang E
Nucl Med Commun 2019 Aug;40(8):827-834. doi: 10.1097/MNM.0000000000001031. PMID: 31107830
Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.
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
Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association.
Tardío JC, Machado I, Navarro L, Idrovo F, Sanz-Ortega J, Pellín A, Llombart-Bosch A
Pathol Res Pract 2015 Nov;211(11):877-82. Epub 2015 Sep 8 doi: 10.1016/j.prp.2015.08.003. PMID: 26386605

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