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A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Gene expression analysis]

ABSTRACT: A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Gene expression analysis]

PROVIDER: PRJNA1016302 | ENA |

REPOSITORIES: ENA

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A novel t(X;21) (p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Copy number analysis]

Project description:In this study we present a thus far undescribed, reciprocal, unbalanced chromosomal translocation between the long arm of chromosome 21 and the short arm of chromosome X, t(X;21)(p11.4;q22.12), in five cases with Myelodysplastic Syndromes and Acute Myeloid Leukemias (MDS/AML). The translocation was isolated or accompanied by one additional change and is not generating a fusion gene. Deletion of RUNX1 at chromosome 21 and of BCOR at chromosome X was shown by Fluorescence In Situ Hybridization (FISH) and Single Nucleotide Polymorphism array (SNPa) analysis. BCOR was downregulated in all cases compared to the normal counterpart, as well as to normal karyotype AMLs (NK-AML). By contrast, RUNX1 expression was not altered, suggesting a compensatory effect of the remaining allele. Molecular analysis by Next Generation Sequencing showed that the translocation was accompanied by at least one somatic mutation at TET2, EZH2, RUNX1, DNMT3A and NRAS genes.

2024-04-30 | GSE243055 | GEO

A novel t(X;21) (p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Gene expression analysis]

2024-04-30 | GSE243053 | GEO

A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias

Project description:A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias

| PRJNA1016298 | ENA

A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Copy number analysis]

Project description:A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Copy number analysis]

| PRJNA1016303 | ENA

A novel t(X;21) (p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias

Project description:This SuperSeries is composed of the SubSeries listed below.

2024-04-30 | GSE243056 | GEO

ZRSR2 mutant myelodysplastic syndromes

Project description:ZRSR2 mutant myelodysplastic syndromes

| PRJNA671387 | ENA

ZRSR2 mutant myelodysplastic syndromes

Project description:ZRSR2 mutant myelodysplastic syndromes

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Oxidative stress in myelodysplastic syndromes

Project description:Control of oxidative stress in the bone marrow (BM) is key for maintaining the balance between self-renewal, proliferation, and differentiation of hematopoietic cells. Breakdown of this regulation can lead to diseases characterized by BM failure such as the myelodysplastic syndromes (MDS). To better understand the role of oxidative stress in MDS development, we compared protein carbonylation as an oxidative stress marker in BM of patients with MDS and control subjects, and also patients with MDS under treatment with the iron chelator deferasirox.

2019-10-30 | PXD013609 | Pride

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

Epigenetic treatment of myelodysplastic syndromes and acute myeloid leukemias.

Project description:Epigenetic mechanisms affecting chromatin structure contribute to regulate gene expression and assure the inheritance of information, which are essential for the proper expression of key regulatory genes in healthy cells, tissues and organs. In the medical field, an increasing body of evidence indicates that altered gene expression or de-regulated gene function lead to disease. Cancer cells also suffer a profound change in the genomic methylation patterns and chromatin status. Aberrant DNA methylation patterns, changes in chromatin structure and in gene expression are common in all kind of tumor types. However, studies on leukemias have provided paradigmatic examples for the functional implications of the epigenetic alterations in cancer development and progression as well as their relevance for therapeutical targeting.

| S-EPMC2764862 | biostudies-literature

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