ArrayExpress Uploaderarrayexpress_sidhumanPoorly differentiated small round cell sarcoma6BCOR-CCNB3femaleUndifferenciated small round cell malignant tumour13BCOR-CCNB3femaleFusiform cell sarcoma14BCOR-CCNB3maleUndifferenciated small round cell malignant tumour6BCOR-CCNB3femaleUndifferenciated small round cell malignant tumour13BCOR-CCNB3malePoorly differentiated small round cell sarcoma12BCOR-CCNB3malePoorly differentiated small round cell sarcoma26BCOR-CCNB3femaleFusiform cell sarcoma13BCOR-CCNB3malePoorly differentiated small round cell sarcoma10BCOR-CCNB3malePoorly differentiated small round cell sarcoma15BCOR-CCNB3maleEwing sarcoma29EWS-FLI1femaleEwing sarcoma13EWS-FLI1maleEwing sarcoma17EWS-FLI1femaleEwing sarcoma40EWS-FLI1male435904The identification of subtype-specific translocations has revolutionized diagnostics of sarcoma and provided new insight into...22387997E-GEOD-34800/profile/8773/arrayexpressuploader414bonecellchromosomeewing sarcomasarcomatestisDec.12, 2014FalseE-GEOD-34800_A-AFFY-44a-new-subtype-of-bone-sarcoma-defined-by-bcor-ccnbA new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusionSep.17, 2014The identification of subtype-specific translocations has revolutionized diagnostics of sarcoma and provided new insight into oncogenesis. We used RNA-Seq to investigate samples diagnosed as small round cell tumors of bone, possibly Ewing sarcoma, but lacking the canonical EWSR1-ETS translocation. A new fusion was observed between the BCL6 co-repressor (BCOR) and the testis specific cyclin B3 (CCNB3) genes on chromosome X. RNA-Seq results were confirmed by RT-PCR and cloning the tumor-specific genomic translocation breakpoints. 24 BCOR-CCNB3-positive tumors were identified among a series of 594 sarcomas. Gene profiling experiments indicate that BCOR-CCNB3-positive cases are biologically distinct from other sarcomas, particularly Ewing’s sarcoma. Finally, we show that CCNB3 immunohistochemistry is a powerful diagnostic marker for this group of sarcoma and that over-expression of BCOR-CCNB3 or of a truncated CCNB3 activates S-phase in NIH3T3 cells. Thus the intrachromosomal X fusion described here represents a new subtype of bone sarcoma caused by a novel gene fusion mechanism. Comparison of expression profiles of 10 BCOR-CCNB3 samples (plus 4 EWS-FLI1 Ewing sarcomas samples as control) with publicly available profiles of other tumor types.http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-34800http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-34800/samples/