Dataset: A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion
The identification of subtype-specific translocations has revolutionized diagnostics of sarcoma and provided new insight into...
The 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.
- Species:
- human
- Samples:
- 14
- Source:
- E-GEOD-34800
- PubMed:
- 22387997
- Updated:
- Dec.12, 2014
- Registered:
- Sep.17, 2014
Sample | FUSION | PATHOLOGY | AGE | SEX |
---|---|---|---|---|
GSM855583 | BCOR-CCNB3 | Poorly differentiated small round cell sarcoma | 6 | female |
GSM855584 | BCOR-CCNB3 | Undifferenciated small round cell malignant tumour | 13 | female |
GSM855585 | BCOR-CCNB3 | Fusiform cell sarcoma | 14 | male |
GSM855586 | BCOR-CCNB3 | Undifferenciated small round cell malignant tumour | 6 | female |
GSM855587 | BCOR-CCNB3 | Undifferenciated small round cell malignant tumour | 13 | male |
GSM855588 | BCOR-CCNB3 | Poorly differentiated small round cell sarcoma | 12 | male |
GSM855589 | BCOR-CCNB3 | Poorly differentiated small round cell sarcoma | 26 | female |
GSM855590 | BCOR-CCNB3 | Fusiform cell sarcoma | 13 | male |
GSM85559 | BCOR-CCNB3 | Poorly differentiated small round cell sarcoma | 10 | male |
GSM855592 | BCOR-CCNB3 | Poorly differentiated small round cell sarcoma | 15 | male |
GSM855593 | EWS-FLI1 | Ewing sarcoma | 29 | female |
GSM855594 | EWS-FLI1 | Ewing sarcoma | 13 | male |
GSM855595 | EWS-FLI1 | Ewing sarcoma | 17 | female |
GSM855596 | EWS-FLI1 | Ewing sarcoma | 40 | male |