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Report a series of BCOR-CCNB3 fusion sarcomas, highlighting the significant morphologic, immunohistochemical and transcriptional overlap with other primitive round/spindle cell sarcomas.
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Suggest that uterine neoplasms with BCOR internal tandem duplication be regarded as a unique subtype of high-grade uterine sarcoma, possibly within the family of endometrial stromal neoplasia.
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BCOR-ITDs define a rare subset of pediatric sarcomas and clinically aggressive endometrial stromal sarcoma cases, as defined by NGS for the first time.
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BCOR-ITD was positively detected in the cfDNA of two cases, both of which were later diagnosed as CCSK based on histological feature of the resected tumor specimen, while it was not detected for a normal control and a patient diagnosed with Wilms' tumor.
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Multivariate analysis demonstrated that BCOR mutations were an independent unfavorable prognostic factor (P = 0.0038, P = 0.0463) for both OS and RFS.
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BCOR mutation is associated with tooth agenesis.
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The majority of the cases of clear cell sarcoma of the kidney in our cohort had BCOR internal tandem duplications
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BCOR was negative in all ewing sarcoma family of tumors
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BCOR immunohistochemical staining is a highly sensitive marker for YWHAE-NUTM2 high-grade endometrial stromal sarcoma with both classic and unusual morphology and identifies a subset of high-grade endometrial stromal sarcoma with BCOR alterations, including BCOR rearrangement and internal tandem duplication.
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the frequent BCOR mutations and the absence of alterations in genes regulating the NF-kappaB pathway (triple-negative for KLF2, TNFAIP3 and MYD88 mutations) or the absence of a BRAF mutation appear to delineate a specific genetic pattern of SDRPL, which is distinct from that already identified in SMZL, HCL or HCL-v.
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BCOR internal tandem duplication and/or nuclear immunoreactivity for BCOR or BCL6 can aid in the diagnosis of primitive myxoid mesenchymal tumor of infancy and help to differentiate it from congenital infantile fibrosarcoma.
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Case Report: altered BCOR expression and homogeneous coactivation of both the SHH and WNT signaling pathways, and suggest potential novel therapeutic approaches for patients with a high grade neuroepithelial tumor of the central nervous system with BCOR alteration diagnosis.
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Immunohistochemistry for either CCNB3 or BCOR is not completely sensitive and specific in undifferentiated sarcoma with BCOR-CCNB3 fusion.
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Case Reports: renal sarcomas with BCOR-CCNB3 gene fusion showing histological overlap with BCOR-related clear cell sarcoma of the kidney.
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we report recurrent BCOR exon 16 internal tandem duplications and YWHAE-NUTM2B fusions in half of infantile soft tissue undifferentiated round cell sarcoma and most primitive myxoid mesenchymal tumor of infancy cases, but not in other pediatric sarcomas.
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All small blue round cell tumors (SBRCTs) with BCOR-MAML3 and BCOR-CCNB3 fusions, as well as most with BCOR internal tandem duplications (93%), and all clear cell sarcoma of kidney showed strong and diffuse nuclear BCOR immunoreactivity.
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we find that ESS with ZC3H7B-BCOR fusion constitutes a novel type of high-grade endometrial stromal sarcoma and shares significant morphologic overlap with myxoid leiomyosarcoma
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We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome
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ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant ossifying fibromyxoid tumors.
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Given the high frequency and pattern of aberration, BCOR is likely to play an important role in ENKTL pathogenesis as a tumor suppressor gene
