A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion

Nature Genetics

Volumn 44, Issue 4, 2012, Pages 461-466

  Pierron, Gaëlle ^a   Tirode, Franck ^b   Lucchesi, Carlo ^b   Reynaud, Stéphanie ^a   Ballet, Stelly ^a   Cohen Gogo, Sarah ^b   Perrin, Virginie ^b   Coindre, Jean Michel ^c   Delattre, Olivier ^a,b  

^a INSTITUT CURIE   (France)

^b INSERM   (France)

^c INSTITUT BERGONIÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN BCL 6; TRANSCRIPTION FACTOR ER81;

ADOLESCENT; ADULT; ARTICLE; BCOR CCNB3 GENE FUSION; CELL CYCLE S PHASE; CHILD; CHROMOSOME DELETION; COPY NUMBER VARIATION; EWING SARCOMA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION PROFILING; GENE FUSION; GENE OVEREXPRESSION; GENE TRANSLOCATION; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME;

ADOLESCENT; ADULT; ANIMALS; BASE SEQUENCE; BONE NEOPLASMS; CELL LINE; CHILD; CHROMOSOMES, HUMAN, X; CYCLIN B; FEMALE; GENE FUSION; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; NIH 3T3 CELLS; ONCOGENE PROTEINS, FUSION; OSTEOSARCOMA; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; RNA-BINDING PROTEIN EWS; SARCOMA; SARCOMA, EWING; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC; TUMOR MARKERS, BIOLOGICAL; YOUNG ADULT;

EID: 84859430312     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1107     Document Type: Article

References (27)

1. Delattre, O. et al. Gene fusion with an ETS domain caused by chromosome translocation in human tumors. Nature 359, 162-165 (1992).
2. Delattre, O. et al. The Ewing family of tumors: a subgroup of small round cell tumors defined by specific chimeric transcripts. N. Engl. J. Med. 331, 294-299 (1994).
3. Toomey, E.C., Schiffman, J.D. & Lessnick, S.L. Recent advances in the molecular pathogenesis of Ewing's sarcoma. Oncogene 29, 4504-4516 (2010).
4. Szuhai, K. 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. 15, 2259-2268 (2009).
5. Broadhead, M.L., Clark, J.C., Myers, D.E. & Dass, C.R. The molecular pathogenesis of osteosarcoma: a review. Sarcoma 2011, 959248 (2011).
6. Wilhelm, B.T. et al. Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution. Nature 453, 1239-1243 (2008).
7. Mortazavi, A., Williams, B.A., McCue, K., Schaeffer, L. & Wold, B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat. Methods 5, 621-628 (2008).
8. Maher, C.A. et al. Chimeric transcript discovery by paired-end transcriptome sequencing. Proc. Natl. Acad. Sci. USA 106, 12353-12358 (2009).
9. Sboner, A. et al. FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data. Genome Biol. 11, R104 (2010).
10. Peter, M., Gilbert, E. & Delattre, O. A multiplex real-time PCR assay for the detection of gene fusions observed in solid tumors. Lab. Invest. 81, 905-912 (2001).
11. Ng, T.L. et al. Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV. J. Mol. Diagn. 9, 459-463 (2007).
12. Huynh, K.D., Fischle, W., Verdin, E. & Bardwell, V.J. BCoR, a novel corepressor involved in BCL-6 repression. Genes Dev. 14, 1810-1823 (2000).
13. Gallant, P. & Nigg, E.A. Identification of a novel vertebrate cyclin: cyclin B3 shares properties with both A- and B-type cyclins. EMBO J. 13, 595-605 (1994).
14. Armengol, G. et al. Recurrent gains of 1q, 8 and 12 in the Ewing family of tumours by comparative genomic hybridization. Br. J. Cancer 75, 1403-1409 (1997).
15. Gearhart, M.D., Corcoran, C.M., Wamstad, J.A. & Bardwell, V.J. Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets. Mol. Cell. Biol. 26, 6880-6889 (2006).
16. Fan, Z. et al. BCOR regulates mesenchymal stem cell function by epigenetic mechanisms. Nat. Cell Biol. 11, 1002-1009 (2009).
17. Ng, D. et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat. Genet. 36, 411-416 (2004).
18. Yamamoto, Y. et al. BCOR as a novel fusion partner of retinoic acid receptor á in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia. Blood 116, 4274-4283 (2010).
19. Grossmann, V. et al. Whole genome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood 118, 6153-6163 (2011).
20. Nguyen, T.B. et al. Characterization and expression of mammalian cyclin b3, a prepachytene meiotic cyclin. J. Biol. Chem. 277, 41960-41969 (2002).
21. Kawamura-Saito, M. 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. 15, 2125-2137 (2006).
22. R: A Language and Environment for Statistical Computing. (eds. Venables, W.N. & Smith, D.M.) (R Development Core Team, Vienna, 2005).
23. Culhane, A.C., Thioulouse, J., Perriere, G. & Higgins, D.G. MADE4: an R package for multivariate analysis of gene expression data. Bioinformatics 21, 2789-2790 (2005).
24. Subramanian, A. et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide experssion profiles. Proc. Natl. Acad. Sci. USA 102, 15545-15550 (2005).
25. Tusher, V.G., Tibshirani, R. & Chu, G. Significance analysis of microarrays applied to the ionizing radiation response. Proc. Natl. Acad. Sci. USA 98, 5116-5121 (2001).
26. Huang, W. et al. Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res. 37, 1-13 (2009).
27. KIP2 and c-Myc expression. Oncogene 20, 3258-3265 (2001).