BCOR-CCNB3 (Ewing-like) sarcoma: A clinicopathologic analysis of 10 cases, in comparison with conventional Ewing sarcoma

American Journal of Surgical Pathology

Volumn 38, Issue 10, 2014, Pages 1307-1318

  Puls, Florian ^a   Niblett, Angela ^a   Marland, Gillian ^a   Gaston, Czar Louie L ^b   Douis, Hassan ^b   Mangham, D Chas ^a,c   Sumathi, Vaiyapuri P ^a   Kindblom, Lars Gunnar ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b ROYAL ORTHOPAEDIC HOSPITAL   (United Kingdom)

^c Robert Jones and Agnes Hunt   (United Kingdom)

Author keywords

BCOR CCNB3 sarcoma; Ewing sarcoma; Immunohistochemistry; RT PCR; Small round cell tumor; Translocation associated sarcoma

Indexed keywords

BCOR PROTEIN, HUMAN; CCNB3 PROTEIN, HUMAN; CYCLIN B; ONCOPROTEIN; REPRESSOR PROTEIN; TUMOR MARKER;

ADOLESCENT; ARTICLE; BIOPSY; BONE TUMOR; CHEMISTRY; CHILD; COMPARATIVE STUDY; EWING SARCOMA; GENE FUSION; GENE TRANSLOCATION; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; KAPLAN MEIER METHOD; MALE; METASTASIS; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PREDICTIVE VALUE; PROGNOSIS; PROPORTIONAL HAZARDS MODEL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TIME;

ADOLESCENT; BIOPSY; BONE NEOPLASMS; CHILD; CYCLIN B; GENE FUSION; HUMANS; IMMUNOHISTOCHEMISTRY; KAPLAN-MEIER ESTIMATE; MAGNETIC RESONANCE IMAGING; MALE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; PROPORTIONAL HAZARDS MODELS; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SARCOMA, EWING; TIME FACTORS; TRANSLOCATION, GENETIC; TUMOR MARKERS, BIOLOGICAL;

EID: 84908498652     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0000000000000223     Document Type: Article

References (26)

1. Pierron G, Tirode F, Lucchesi C, et al. A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. Nat Genet. 2012;44: 461-466.
2. Nguyen TB. Characterization and expression of mammalian cyclin B3, a prepachytene meiotic cyclin. J Biol Chem. 2002;277:41960-41969.
3. Fletcher CDM, Chibon F, Mertens F. Undifferentiated/unclassified sarcomas. In: Fletcher CDM, Bridge JA, Hogendoorn PCW, et al, eds. WHO Classification of Tumours of Soft Tissue and Bone. Lyon, France: IARC Press; 2013:236-238.
4. de Alava E, Lessnick SL, Sorensen PH. Ewing sarcoma. In: Fletcher CDM, Bridge JA, Hogendoorn PCW, et al, eds. WHO Classification of Tumours of Soft Tissue and Bone. Lyon, France: IARC Press; 2013:306-309.
5. Williams A, Bartle G, Sumathi VP, et al. Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffinembedded tissue in a series of 18 cases of alveolar soft part sarcoma: Useful diagnostic tools in cases with unusual histological features. Virchows Arch. 2011;458:291-300.
6. van de Rijn M, Guo X, Sweeney RT, et al. Molecular pathological analysis of sarcomas using paraffin-embedded tissue: current limitations and future possibilities. Histopathology. 2014;64:163-170.
7. Wang L, Motoi T, Khanin R, et al. Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data. Genes Chromosom Cancer. 2012;51:127-139.
8. Chmielecki J, Crago AM, Rosenberg M, et al. Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors. Nat Genet. 2013;45:131-132.
9. Robinson DR, Wu Y-M, Kalyana-Sundaram S, et al. Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat Genet. 2013;45:180-185.
10. Machado I, Noguera R, Mateos EA, et al. The many faces of atypical Ewing's sarcoma. A true entity mimicking sarcomas, carcinomas and lymphomas. Virchows Arch. 2010;458:281-290.
11. Folpe AL, Goldblum JR, Rubin BP, et al. Morphologic and immunophenotypic diversity in Ewing family tumors: a study of 66 genetically confirmed cases. Am J Surg Pathol. 2005;29: 1025-1033.
12. Meis-Kindblom JM, Bergh P, Gunterberg B, et al. Extraskeletal myxoid chondrosarcoma: a reappraisal of its morphologic spectrum and prognostic factors based on 117 cases. Am J Surg Pathol. 1999; 23:636-650.
13. Llombart-Bosch A, Machado I, Navarro S, et al. Histological heterogeneity of Ewing's sarcoma/PNET: an immunohistochemical analysis of 415 genetically confirmed cases with clinical support. Virchows Arch. 2009;455:397-411.
14. Antonescu C. Round cell sarcomas beyond Ewing: emerging entities. Histopathology. 2014;64:26-37.
15. Huynh KD, Fischle W, Verdin E, et al. BCoR, a novel corepressor involved in BCL-6 repression. Genes Dev. 2000;14:1810-1823.
16. Bacci G, Ferrari S, Mercuri M, et al. Multimodal therapy for the treatment of nonmetastatic Ewing sarcoma of pelvis. J Pediatr Hematol Oncol. 2003;25:118-124.
17. Cotterill SJ, Ahrens S, Paulussen M, et al. Prognostic factors in Ewing's tumor of bone: analysis of 975 patients from the European Intergroup Cooperative Ewing's Sarcoma Study Group. J Clin Oncol. 2000;18:3108-3114.
18. Stegmaier K, Wong JS, Ross KN, et al. Signature-based small molecule screening identifies cytosine arabinoside as an EWS/FLI modulator in Ewing sarcoma. PLoS Med. 2007;4:e122.
19. Lessnick SL, Ladanyi M. Molecular pathogenesis of Ewing sarcoma: new therapeutic and transcriptional targets. Ann Rev Pathol. 2012;7:145-159.
20. Choi EY, Thomas DG, McHugh JB, et al. Undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: a novel highly aggressive soft tissue tumor with distinctive histopathology. Am J Surg Pathol. 2013;37:1379-1386.
21. Italiano A, Sung YS, Zhang L, et al. High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas. Genes Chromosom Cancer. 2012;51:207-218.
22. Kawamura-Saito M. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet. 2006;15:2125-2137.
23. Machado I, Cruz J, Lavernia J, et al. 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. Virchows Arch. 2013;463:837-842.
24. Graham C, Chilton-MacNeill S, Zielenska M, et al. The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas. Hum Pathol. 2012;43:180-189.
25. Kajtar B, Tornoczky T, Kalman E, et al. CD99-positive undifferentiated round cell sarcoma diagnosed on fine needle aspiration cytology, later found to harbour a CIC-DUX4 translocation: a recently described entity. Cytopathology. 2014;25:129-132.
26. World Health Organization. Fletcher CDM, Bridge JA, Hogendoorn PCW, et al. WHO Classification of Tumours of Soft Tissue and Bone. Lyon: International Agency for Research on Cancer; 2013.