Literature DB >> 17990934

Translocation (4;19)(q35;q13.1)-associated primitive round cell sarcoma: report of a case and review of the literature.

Dinesh Rakheja1, Stanton Goldman, Kathleen S Wilson, Carl Lenarsky, Joel Weinthal, Roger A Schultz.   

Abstract

We report the 4th case of a primitive round cell sarcoma with the translocation (4;19)(q35;q13.1) as the primary cytogenetic abnormality. This undifferentiated sarcoma shows some features of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), including a diffuse reactivity for FLI1, but it shows only focal and weak reactivity for CD99 and is negative for a rearrangement of EWS, the molecular signature of ES/PNET. Recognition of the histopathologic and cytogenetic features of this entity is necessary to avoid its misdiagnosis as ES/PNET, especially in small biopsy samples.

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Mesh：

Year:  2007        PMID： 17990934     DOI： 10.2350/07-06-0296.1

Source DB:  PubMed          Journal:  Pediatr Dev Pathol        ISSN： 1093-5266


  9 in total

1.  High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.

Authors:  Antoine Italiano; Yun Shao Sung; Lei Zhang; Samuel Singer; Robert G Maki; Jean-Michel Coindre; Cristina R Antonescu
Journal:  Genes Chromosomes Cancer       Date:  2011-11-10       Impact factor: 5.006

2.  Targeted next-generation sequencing of CIC-DUX4 soft tissue sarcomas demonstrates low mutational burden and recurrent chromosome 1p loss.

Authors:  Lorena Lazo de la Vega; Daniel H Hovelson; Andi K Cani; Chia-Jen Liu; Jonathan B McHugh; David R Lucas; Dafydd G Thomas; Rajiv M Patel; Scott A Tomlins
Journal:  Hum Pathol       Date:  2016-09-21       Impact factor: 3.466

3.  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.

Authors:  Isidro Machado; Julia Cruz; Javier Lavernia; Luis Rubio; Jorge Campos; María Barrios; Camille Grison; Virginie Chene; Gaelle Pierron; Olivier Delattre; Antonio Llombart-Bosch
Journal:  Virchows Arch       Date:  2013-11-10       Impact factor: 4.064

4.  ETV4 is a useful marker for the diagnosis of CIC-rearranged undifferentiated round-cell sarcomas: a study of 127 cases including mimicking lesions.

Authors:  Sophie Le Guellec; Valérie Velasco; Gaëlle Pérot; Sarah Watson; Franck Tirode; Jean-Michel Coindre
Journal:  Mod Pathol       Date:  2016-08-26       Impact factor: 7.842

5.  Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities.

Authors:  Katja Specht; Yun-Shao Sung; Lei Zhang; Günther H S Richter; Christopher D Fletcher; Cristina R Antonescu
Journal:  Genes Chromosomes Cancer       Date:  2014-04-10       Impact factor: 5.006

6.  CIC-DUX sarcomas demonstrate frequent MYC amplification and ETS-family transcription factor expression.

Authors:  Steven Christopher Smith; Darya Buehler; Eun-Young Karen Choi; Jonathan B McHugh; Brian P Rubin; Steven D Billings; Bonnie Balzer; Dafydd G Thomas; David R Lucas; John R Goldblum; Rajiv M Patel
Journal:  Mod Pathol       Date:  2014-06-20       Impact factor: 7.842

7.  BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.

Authors:  Tricia L Peters; Vijetha Kumar; Sumanth Polikepahad; Frank Y Lin; Stephen F Sarabia; Yu Liang; Wei-Lien Wang; Alexander J Lazar; HarshaVardhan Doddapaneni; Hsu Chao; Donna M Muzny; David A Wheeler; M Fatih Okcu; Sharon E Plon; M John Hicks; Dolores López-Terrada; D Williams Parsons; Angshumoy Roy
Journal:  Mod Pathol       Date:  2014-10-31       Impact factor: 7.842

8.  The "grep" command but not FusionMap, FusionFinder or ChimeraScan captures the CIC-DUX4 fusion gene from whole transcriptome sequencing data on a small round cell tumor with t(4;19)(q35;q13).

Authors:  Ioannis Panagopoulos; Ludmila Gorunova; Bodil Bjerkehagen; Sverre Heim
Journal:  PLoS One       Date:  2014-06-20       Impact factor: 3.240

Review 9.  High-grade undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: emerging entities of soft tissue tumors with unique histopathologic features--a case report and literature review.

Authors:  Abdallah Haidar; Subramanyeswara Arekapudi; Frances DeMattia; Eyad Abu-Isa; Michael Kraut
Journal:  Am J Case Rep       Date:  2015-02-16
  9 in total

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