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Molecular and clinicopathologic characteristics of CNS tumors with BCOR::EP300 gene fusions

ABSTRACT: Molecular and clinicopathologic characteristics of CNS tumors with BCOR::EP300 gene fusions

PROVIDER: PRJNA869111 | ENA |

REPOSITORIES: ENA

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Molecular and clinicopathologic characteristics of CNS tumors with BCOR::EP300 gene fusions

Project description:Genomewide DNA methylation array profiling of 37 BCOR altered tumors and 37 non-BCOR altered tumors to study the rare tumor entity of EP300::BCOR fusion in central nervous system. The raw methylation idat files and processed beta values were provided here.

2022-10-09 | GSE211156 | GEO

The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of "CNS tumors with BCOR internal tandem duplication".

Project description: Not available

| S-EPMC7607816 | biostudies-literature

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION

Project description:CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION

| PRJNA779408 | ENA

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [methylation]

Project description:CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [methylation]

| PRJNA779411 | ENA

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [methylation]

Project description:Undifferentiated soft tissue sarcomas (UDSTS ) are a group of mesenchymal tumors that remain a diagnostic challenge due to their morphologic heterogeneity and unclear histologic origin (Pe-ters et al. 2015b). In this case report, we present the first multi-omics molecular signature for BCOR-CCNB3 sarcomas (BCS) that includes mutation analysis, gene expression, DNA methyla-tion, and mi-RNA expression. We identify a paucity of additonal mutations in this tumor and de-tail that there is significant dysregulation of gene expression of epigeneic remodeling agents in-cluding key members of the PRC, Sin3A/3b, NuRD, and NcoR/SMRT complexes and the DNA methyltransferases DNMT1, DNMT3a, and DNMT3b. This is accompanied by significant DNA methylation changes and dysregulation of multiple miRNA with known links to tumorigenesis. This study significantly increases our understanding of the BCOR effects on fusion positive un-differentiated sarcomas at both the genomic and epigenomic level, and suggests that as better-tailored and more refined treatment algorithms continue to evolve, epigenetic modifying agents should be further evaluated for their efficacy against these tumors.

2021-11-12 | GSE188552 | GEO

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [RNA-seq]

2021-11-12 | GSE188554 | GEO

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [miRNA-seq]

2021-11-12 | GSE188553 | GEO

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [RNA-seq]

Project description:CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [RNA-seq]

| PRJNA779412 | ENA

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [miRNA-seq]

Project description:CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY REVEALS SIGNIFICANT EPI-GENETIC ALTERATION [miRNA-seq]

| PRJNA779413 | ENA

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

Project description:Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3, MLL-PTD and IDH1, we newly identified a clonal somatic mutation in BCOR (BCL6 co-repressor), a gene located in chromosome X. Further analyses showed that BCOR mutations occurred in 11/262 (4.2%) CN-AML cases and represented a substantial fraction (14/82, 17.1%) of CN-AML patients showing the same genetic background as the index patient subjected to WES. BCOR somatic mutations were: i) disruptive events similar to germline BCOR mutations causing the oculo-cranio-facial-dental (OCFD) genetic syndrome; ii) associated with markedly decreased BCOR mRNA levels, absence of full-length BCOR and absent or low expression of a truncated BCOR protein; iii) almost mutually exclusive with NPM1 mutations and frequently associated with DNMT3A and RUNX1 mutations, pointing to a cooperation between these events. Finally, BCOR mutations correlated with poor outcome among a cohort of 160 CN-AML patients (28% versus 66% overall survival at 2 yrs, P=0.024). Our results implicate for the first time BCOR in the pathogenesis of CN-AML without NPM1 mutations. AML samples with normal karyotype were studied. Molecular analyses were performed for BCOR mutations. 12 BCOR wild-type cases and 12 BCOR mutated cases were hybridized to gene expression micro-arrays.

2011-12-16 | E-GEOD-30442 | biostudies-arrayexpress

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