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GENE:

BCORL1 (BCL6 Corepressor Like 1)

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Other names: BCORL1, BCL6 Corepressor Like 1, BCL-6 Corepressor-Like Protein 1, BCoR-Like Protein 1, FLJ11362, BCoR-L1, CXorf10, Chromosome X Open Reading Frame 10, BCL6 Co-Repressor-Like 1, SHUVER
Associations
Trials
12d
Chronic lymphocytic leukemia with IGH/BCL2 fusion and clonal heterogeneity: phenotypic and molecular profiling analysis of a rare case. (PubMed, Ann Hematol)
NGS revealed that a common progenitor cell with BCL2-IgH translocation and mutations in TP53, KMT2A, KMT2C, and KMT2D gave rise to two distinct subclones: one (CD5 + CD23+CD200+) CLL driven by mutations in TNFAIP3 and BCORL1, and the other (CD5-CD23-CD200-) driven by mutations in EP300, NOTCH1, and BCL2. This case highlights the significance of clonal heterogeneity in CLL and underscores the crucial role of MFC, flow sorting, and molecular genetics in diagnosing and understanding the complex evolution of this disease.
Journal • IO biomarker
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TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • NOTCH1 (Notch 1) • KMT2A (Lysine Methyltransferase 2A) • IGH (Immunoglobulin Heavy Locus) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • EP300 (E1A binding protein p300) • TNFAIP3 (TNF Alpha Induced Protein 3) • CD5 (CD5 Molecule) • CD200 (CD200 Molecule) • BCORL1 (BCL6 Corepressor Like 1) • FCER2 (Fc Fragment Of IgE Receptor II)
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TP53 mutation • IGH mutation • MLL mutation
1m
Immune-Mediated Multilineage Cytopenias in Thymoma: A Retrospective Case Series. (PubMed, Thorac Cancer)
Thymoma-associated multilineage cytopenias are heterogeneous, frequently relapsing, and driven by complex T-cell-mediated immune dysregulation. Comprehensive evaluation and individualized immunosuppressive therapy are essential for management.
Retrospective data • Journal • IO biomarker
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EP300 (E1A binding protein p300) • BCORL1 (BCL6 Corepressor Like 1)
2ms
Molecular classification and outcomes in pediatric aplastic anemia with myeloid neoplasm-associated gene variants. (PubMed, Front Pediatr)
There was no significant difference in the efficacy of IST among patients with different gene variants. Survival time was associated with disease severity, and the development of a hematological response-particularly when achieved at 3 months-was an independent key factor, whereas genotype was not.
Journal
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • ETV6 (ETS Variant Transcription Factor 6) • WT1 (WT1 Transcription Factor) • BCOR (BCL6 Corepressor) • GATA2 (GATA Binding Protein 2) • CALR (Calreticulin) • SH2B3 (SH2B Adaptor Protein 3) • BCORL1 (BCL6 Corepressor Like 1)
3ms
Integrative diagnostic approach in a rare case of primary thyroid leiomyosarcoma with distant metastasis: a case report and literature review. (PubMed, Gland Surg)
In May 2025, the patient initiated intravenous chemotherapy consisting of pegylated liposomal doxorubicin and ifosfamide. This case highlights the importance of early integration of histopathological and molecular evaluation for progressive thyroid lesions. The co-occurrence of NF1 and BCORL1 mutations, along with TP53 and TERT promoter alterations, may underlie the tumor's aggressive biological behavior and supports the incorporation of molecular subtyping strategies in TLS management.
Journal
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TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • BCL6 (B-cell CLL/lymphoma 6) • BCOR (BCL6 Corepressor) • BCORL1 (BCL6 Corepressor Like 1)
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TP53 mutation
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ifosfamide • pegylated liposomal doxorubicin
4ms
Comparative analysis reveals recurrent molecular alterations in low-risk HPV6 and HPV11-associated squamous cell carcinoma of the uterine cervix and vulva. (PubMed, Mod Pathol)
We provide evidence that SCCs associated with low-risk HPV are distinct entities, differing from those related to high-risk HPV and more closely resembling HPV-independent neoplasms. Given that low-risk HPV-associated SCCs of the cervix and vulva exhibit unique morphological and molecular features, they should either be described separately within existing classification systems or classified as a distinct new entity.
Journal
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TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR2 (Fibroblast growth factor receptor 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • TERT (Telomerase Reverse Transcriptase) • ASXL1 (ASXL Transcriptional Regulator 1) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • NOTCH2 (Notch 2) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CARD11 (Caspase Recruitment Domain Family Member 11) • NOTCH3 (Notch Receptor 3) • STAG2 (Stromal Antigen 2) • KMT2B (Lysine Methyltransferase 2B) • EPHA5 (EPH Receptor A5) • FNDC1 (Fibronectin Type III Domain Containing 1) • BCORL1 (BCL6 Corepressor Like 1)
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ARID1A mutation • FGFR2 mutation
6ms
BCOR, BCORL1, and BCL6 Mutations in Pediatric Leukemias. (PubMed, Cancers (Basel))
We present a case series of pediatric and adolescent patients, with de novo AML, harboring BCOR/BCORL1 mutations. Studies involving larger cohorts of patients are needed to further elucidate the role of BCOR/BCORL1 mutations in pediatric AML and MDS.
Journal
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BCL6 (B-cell CLL/lymphoma 6) • BCOR (BCL6 Corepressor) • BCORL1 (BCL6 Corepressor Like 1)
7ms
CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity. (PubMed, Int J Mol Sci)
Notably, EMA showed focal strong dot-like perinuclear immunoreactivity, which has not been previously reported in these tumors. This case adds to the limited but growing body of evidence supporting the use of radiation and temozolomide in treating tumors matching the methylation class of CNS tumors with BCOR/BCORL1 fusion without a detectable fusion.
Journal
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BCL6 (B-cell CLL/lymphoma 6) • BCOR (BCL6 Corepressor) • BCORL1 (BCL6 Corepressor Like 1) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
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temozolomide
10ms
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML. (PubMed, Leukemia)
In addition, 37% of relapsed cases showed a change of major clones, with 40% having potential targets of molecular-targeting treatment. This study revealed the novel prognostic role of myelodysplasia-related gene mutations and established the importance of molecular response assessment in CRc phase.
Journal
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TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • BCORL1 (BCL6 Corepressor Like 1)
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TP53 mutation • RAS mutation • ASXL1 mutation
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Venclexta (venetoclax) • azacitidine
11ms
Hydroa vacciniforme lymphoproliferative disorder, a clinicopathologic and genetic analysis. (PubMed, Hum Pathol)
Most patients were treated with immunomodulating therapy, two received methotrexate, three received multiagent chemotherapy and one underwent hematopoietic stem cell transplant...Our results showed that patients with persistent/progressive systemic HV-LPD have a poor prognosis and do not respond well to chemotherapy. The mutation spectrum bore some resemblance to extranodal NK/T lymphomas but also had notable differences.
Journal
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TP53 (Tumor protein P53) • CD20 (Membrane Spanning 4-Domains A1) • CD8 (cluster of differentiation 8) • TNFRSF8 (TNF Receptor Superfamily Member 8) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2D (Lysine Methyltransferase 2D) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CREBBP (CREB binding protein) • BCOR (BCL6 Corepressor) • KDM6A (Lysine Demethylase 6A) • NCAM1 (Neural cell adhesion molecule 1) • IRF8 (Interferon Regulatory Factor 8) • RHOA (Ras homolog family member A) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • NCOR1 (Nuclear Receptor Corepressor 1) • NCOR2 (Nuclear Receptor Corepressor 2) • ZFHX3 (Zinc Finger Homeobox 3) • GZMB (Granzyme B) • IRF4 (Interferon regulatory factor 4) • PRDM1 (PR/SET Domain 1) • ALPK2 (Alpha Kinase 2) • BCORL1 (BCL6 Corepressor Like 1) • DDX3X (DEAD-Box Helicase 3 X-Linked)
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TP53 mutation • CD20 positive • TET2 mutation
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methotrexate
11ms
Impact of BCOR/BCORL1 mutation on outcomes of allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients. (PubMed, Ann Hematol)
We also investigated the impact of the type and location of BCOR/BCORL1mut on transplant outcomes, but no significant effect was observed. Our findings suggest that BCOR/BCORL1mut is associated with relapse after allo-HSCT, despite no observed difference in OS, and that allo-HSCT could help to overcome the impact of BCOR/BCORL1mut characteristics on outcomes.
Review • Journal
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DNMT3A (DNA methyltransferase 1) • BCOR (BCL6 Corepressor) • BCORL1 (BCL6 Corepressor Like 1)
11ms
Mutation dynamics from diagnosis to relapse in acute myeloid leukemia with chromosomal 7 deletions. (PubMed, Leuk Lymphoma)
Patients with mutated TP53 and co-mutation in NF1, BCORL1, GATA2, or RUNX1 had shorter relapse-free survival (2 vs. 5 months) and OS (7.2 vs. 10.4 months) than those with TP53 mutation alone. Allogeneic transplant improved OS significantly, regardless of TP53 status.
Journal
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TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • GATA2 (GATA Binding Protein 2) • BCORL1 (BCL6 Corepressor Like 1)
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TP53 mutation • NRAS mutation • TP53 wild-type • RUNX1 mutation • ASXL1 mutation • SRSF2 mutation
11ms
Diagnostic Implications of NGS-Based Molecular Profiling in Mature B-Cell Lymphomas with Potential Bone Marrow Involvement. (PubMed, Diagnostics (Basel))
NGS enhances the diagnostic accuracy of mature B-cell lymphomas by complementing traditional methods, refining WHO-classified subtypes, and improving detection in cases with inconclusive cytogenetics or morphology. NGS may reduce the need for unnecessary bone marrow re-punctures by providing additional information in ambiguous cases.
Journal • Next-generation sequencing
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BRAF (B-raf proto-oncogene) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • BCORL1 (BCL6 Corepressor Like 1)
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BRAF mutation