HGNC:20893 Xp11.4 MIM.300485
Saturday 1 January 2011
BCL6 corepressor; FLJ20285, KIAA1575
The BCOR-CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was described in translocation-negative ’Ewing-like’ sarcomas arising in bone and soft tissue.
- CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells.
- The intrachromosomal X-chromosome fusion represents a new subtype of bone sarcoma caused by a newly identified gene fusion mechanism.
- BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang WL, Lazar AJ, Doddapaneni H, Chao H, Muzny DM, Wheeler DA, Okcu MF, Plon SE, Hicks MJ, López-Terrada D, Parsons DW, Roy A. Mod Pathol. 2015 Apr;28(4):575-86. doi : 10.1038/modpathol.2014.139 PMID: 25360585
A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. Pierron G, Tirode F, Lucchesi C, Reynaud S, Ballet S, Cohen-Gogo S, Perrin V, Coindre JM, Delattre O. Nat Genet. 2012 Mar 4. PMID: 22387997