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

Modern Pathology

Volumn 28, Issue 4, 2015, Pages 575-586

  Peters, Tricia L ^a   Kumar, Vijetha ^a   Polikepahad, Sumanth ^a   Lin, Frank Y ^b   Sarabia, Stephen F ^a   Liang, Yu ^c   Wang, Wei Lien ^c   Lazar, Alexander J ^c,d   Doddapaneni, Harshavardhan ^b   Chao, Hsu ^b   Muzny, Donna M ^b   Wheeler, David A ^b   Okcu, M Fatih ^b   Plon, Sharon E ^b   Hicks, M John ^a,b   López Terrada, Dolores ^a,b   Parsons, D Williams ^b   Roy, Angshumoy ^a,b  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^d UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOPHOSPHAMIDE; DACTINOMYCIN; DOXORUBICIN; ETOPOSIDE; IFOSFAMIDE; VINCRISTINE; BCOR PROTEIN, HUMAN; CCNB3 PROTEIN, HUMAN; CYCLIN B; ONCOPROTEIN; REPRESSOR PROTEIN;

ADOLESCENT; ARTICLE; BCOR CCNB3 FUSION GENE; BCOR GENE; CANCER ADJUVANT THERAPY; CCNB3 GENE; CHILD; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISTANT METASTASIS; DONOR SITE; EWING SARCOMA; EXON; FEMALE; FUSION GENE; GENE; GENE FUSION; GENE REARRANGEMENT; HISTOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTRON; MALE; NEUROECTODERM TUMOR; OSTEOSARCOMA; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHABDOMYOSARCOMA; SARCOMA; SCHOOL CHILD; SOFT TISSUE SARCOMA; SPINDLE CELL SARCOMA; X CHROMOSOME; ADULT; AGED; GENETICS; MIDDLE AGED; PATHOLOGY; SOFT TISSUE TUMOR; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CYCLIN B; FEMALE; HUMANS; MALE; MIDDLE AGED; ONCOGENE FUSION; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; SARCOMA; SOFT TISSUE NEOPLASMS; YOUNG ADULT;

EID: 84926516026     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2014.139     Document Type: Article

References (33)

1. Fletcher CDM, Chibon F, Mertens F. Undifferentiated/ unclassified sarcomas, In: Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F (eds). WHO classification of tumours of soft tissue and bone, 4th edn. IARC Press: Lyon, France; 2013, pp 235-238.
2. Fletcher CD. Undifferentiated sarcomas: what to do? And does it matter? A surgical pathology perspective. Ultrastruct Pathol 2008;32:31-36.
3. Alaggio R, Bisogno G, Rosato A, et al. Undifferentiated sarcoma: does it exist? A clinicopathologic study of 7 pediatric cases and review of literature. Hum Pathol 2009;40:1600-1610.
4. Fletcher CD. The evolving classification of soft tissue tumours-an update based on the new 2013 WHO classification. Histopathology 2014;64:2-11.
5. Pawel BR, Hamoudi AB, Asmar L, et al. Undifferentiated sarcomas of children: pathology and clinical behavior-an intergroup rhabdomyosarcoma study. Med Pediatr Oncol 1997;29:170-180.
6. Somers GR, Gupta AA, Doria AS, et al. Pediatric undifferentiated sarcoma of the soft tissues: a clinicopathologic study. Pediatr Dev Pathol 2006;9:132-142.
7. 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.
8. 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 Chromosomes Cancer 2012;51:207-218.
9. Kawamura-Saito M, Yamazaki Y, Kaneko K, et al. 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.
10. Rakheja D, Goldman S, Wilson KS, et al. Translocation (4;19)(q35;q13.1)-associated primitive round cell sarcoma: report of a case and review of the literature. Pediatr Dev Pathol 2008;11:239-244.
11. Somers GR, Shago M, Zielenska M, et al. Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: case report. Pediatr Dev Pathol 2004;7:538-545.
12. Yoshimoto M, Graham C, Chilton-MacNeill S, et al. Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC-DUX4 fusion gene event. Cancer Genet Cytogenet 2009;195:1-11.
13. 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.
14. Antonescu C. Round cell sarcomas beyond Ewing: emerging entities. Histopathology 2014;64:26-37.
15. Specht K, Sung YS, Zhang L, et al. 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. Genes Chromosomes Cancer 2014;53:622-633.
16. Wang L, Bhargava R, Zheng T, et al. Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions. J Mol Diagn 2007;9:498-509.
17. Sumegi J, Nishio J, Nelson M, et al. A novel t(4;22) (q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. Mod Pathol 2011;24:333-342.
18. Szuhai K, Ijszenga M, de Jong D, et al. The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology. Clin Cancer Res 2009;15:2259-2268.
19. Mastrangelo T, Modena P, Tornielli S, et al. A novel zinc finger gene is fused to EWS in small round cell tumor. Oncogene 2000;19:3799-3804.
20. 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.
21. Puls F, Niblett A, Marland G, et al. BCOR-CCNB3 (Ewing-like) sarcoma: a clinicopathologic analysis of 10 cases, in comparison with conventional Ewing sarcoma. Am J Surg Pathol 2014;38:1307-1318.
22. Kim D, Salzberg SL. TopHat-Fusion: an algorithm for discovery of novel fusion transcripts. Genome biology 2011;12:R72.
23. McPherson A, Hormozdiari F, Zayed A, et al. deFuse: an algorithm for gene fusion discovery in tumor RNASeq data. PLoS Comput Biol 2011;7:e1001138.
24. Antonescu CR, Le Loarer F, Mosquera JM, et al. Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer 2013;52:775-784.
25. Lee CH, Ou WB, Marino-Enriquez A, et al. 14-3-3 fusion oncogenes in high-grade endometrial stromal sarcoma. Proc Natl Acad Sci USA 2012;109:929-934.
26. Robinson DR, Wu YM, 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.
27. Stein-Wexler R. Pediatric soft tissue sarcomas. Semin Ultrasound CT MR 2011;32:470-488.
28. Newton WA Jr., Soule EH, Hamoudi AB, et al. Histopathology of childhood sarcomas, intergroup rhabdomyosarcoma studies I and II: clinicopathologic correlation. J Clin Oncol 1988;6:67-75.
29. Rossiter JP, Young M, Kimberland ML, et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994;3:1035-1039.
30. Fan Z, Yamaza T, Lee JS, et al. BCOR regulates mesenchymal stem cell function by epigenetic mechanisms. Nat Cell Biol 2009;11:1002-1009.
31. Yamamoto Y, Tsuzuki S, Tsuzuki M, et al. BCOR as a novel fusion partner of retinoic acid receptor alpha in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia. Blood 2010;116:4274-4283.
32. Panagopoulos I, Thorsen J, Gorunova L, et al. Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X;22-translocation. Genes Chromosomes Cancer 2013;52:610-618.
33. Antonescu CR, Sung YS, Chen CL, et al. Novel ZC3H7BBCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors-molecular characterization shows genetic overlap with endometrial stromal sarcoma. Genes Chromosomes Cancer 2014;53:183-193.