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| Status |
Public on Mar 03, 2012 |
| Title |
A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
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.
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| Overall design |
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.
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| Contributor(s) |
Pierron G, Tirode F, Lucchesi C, Reynaud S, Ballet S, Cohen-Gogo S, Perrin V, Coindre J, Delattre O |
| Citation(s) |
22387997 |
| |
| Submission date |
Jan 02, 2012 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Franck Tirode |
| Organization name |
Institut Curie
|
| Department |
Inserm U830
|
| Lab |
Génétique et biologie des tumeurs pédiatriques
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| Street address |
26 Rue d'Ulm
|
| City |
Paris |
| ZIP/Postal code |
75005 |
| Country |
France |
| |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (14)
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| Relations |
| BioProject |
PRJNA151127 |
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