Abstract

BCL-6 transcriptional corepressor (BCOR) gene is located at Xp11.4 and encodes a protein which is involved in transcriptional repression in association with BCL-6 and epigenetic silencing through polycomb repressive complex 1 (PRC1). BCOR mutations are being identified in an increasing number of tumours which are diverse in their anatomical location and clinical setting. Interestingly, these tumours share similar and overlapping histological features, namely small round blue cell morphology and a myxoid background with delicate capillary channels. Clear cell sarcoma of the kidney, primitive myxoid mesenchymal tumour of infancy and central nervous system high-grade neuroepithelial tumour with BCOR alteration all share similar internal tandem duplications in the polycomb-group really interesting new gene (RING) finger homolog ubiquitin-likefold discriminator domain of BCOR. Translocations resulting in BCOR fusion with CCNB3, MAML3 and ZC3H7B have been identified in undifferentiated round cell sarcoma. Subsets of high-grade endometrial stromal sarcoma and ossifying fibromyxoid tumour which have a more aggressive clinical course have been shown to harbour ZC3H7B-BCOR fusions. BCOR immunohistochemistry is an established marker with diagnostic utility.