Molecular Alterations in BCOR
Section Editor: Dharam M. Ramnani, MD
Virginia Urology, Richmond, VA, USA
Image Description
BCOR Alterations in Various Cancers (See Reference Below):
BCOR ITDs: Somatic, in-frame internal tandem duplications (ITDs) are found at the 3' end of exon 15 coding sequence in the following tumors: Clear Cell Sarcoma of Kidney, Primitive Mesenchymal Myxoid Tumor of Infancy, Ewing-like Small Round Blue Cell Sarcomas of Kidney, Undifferentiated Round Cell Sarcomas, subgroup of Endometrial Stromal Sarcomas, and a subgroup of high-grade PNET of CNS
BCOR-CCNB3 Fusion: Soft Tissue Undifferentiated Round Cell Sarcomas
BCOR-MAML3 Fusion: Ewing-like Small Round Blue Cell Sarcomas
ZC3H7B-BCOR Fusion: Ewing-like Small Round Blue Cell Sarcomas; sub group of Endometrial Stromal Sarcomas
BCOR-RARA Fusion: BCOR is a novel fusion partner of retinoic acid receptor alpha (RARA) gene in a variant of acute promyelocytic leukemia
BCOR Mutations: 10% of PAX negative rhabdomyosarcomas
Loss of Function BCOR Mutations:Retinoblastomas, high-grade glial tumors and medulloblastomas; 10% of acute myeloid leukemias and myelodysplastic syndrome cases; Prolymphocytic T leukemias and chronic lymphocytic leukemias (<10% cases); diffuse splenic lymphoma of red pulp and extranodal NK/T- cell lymphomas, nasal type (20-30% of cases); aggressive B3-thymomas; various carcinomas.
Image source: Astolfi A et al. BCOR involvement in cancer. Epigenomics (2019) 11(7):835-855; used under Creative Commons - Attribution-NonCommercial-NoDerivatives 4.0 Unported License - CC BY-NC-ND 4.0
BCOR ITDs: Somatic, in-frame internal tandem duplications (ITDs) are found at the 3' end of exon 15 coding sequence in the following tumors: Clear Cell Sarcoma of Kidney, Primitive Mesenchymal Myxoid Tumor of Infancy, Ewing-like Small Round Blue Cell Sarcomas of Kidney, Undifferentiated Round Cell Sarcomas, subgroup of Endometrial Stromal Sarcomas, and a subgroup of high-grade PNET of CNS
BCOR-CCNB3 Fusion: Soft Tissue Undifferentiated Round Cell Sarcomas
BCOR-MAML3 Fusion: Ewing-like Small Round Blue Cell Sarcomas
ZC3H7B-BCOR Fusion: Ewing-like Small Round Blue Cell Sarcomas; sub group of Endometrial Stromal Sarcomas
BCOR-RARA Fusion: BCOR is a novel fusion partner of retinoic acid receptor alpha (RARA) gene in a variant of acute promyelocytic leukemia
BCOR Mutations: 10% of PAX negative rhabdomyosarcomas
Loss of Function BCOR Mutations:Retinoblastomas, high-grade glial tumors and medulloblastomas; 10% of acute myeloid leukemias and myelodysplastic syndrome cases; Prolymphocytic T leukemias and chronic lymphocytic leukemias (<10% cases); diffuse splenic lymphoma of red pulp and extranodal NK/T- cell lymphomas, nasal type (20-30% of cases); aggressive B3-thymomas; various carcinomas.
Image source: Astolfi A et al. BCOR involvement in cancer. Epigenomics (2019) 11(7):835-855; used under Creative Commons - Attribution-NonCommercial-NoDerivatives 4.0 Unported License - CC BY-NC-ND 4.0