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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

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE243056 | GEO | 2024/04/30

REPOSITORIES: GEO

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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]

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 | 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 [Copy number analysis]

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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.

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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

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

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Isocitrate Dehydrogenase Mutations in Myelodysplastic Syndromes and in Acute Myeloid Leukemias.

Project description:Acute myeloid leukemia (AML) is a heterogeneous disease generated by the acquisition of multiple genetic and epigenetic aberrations which impair the proliferation and differentiation of hematopoietic progenitors and precursors. In the last years, there has been a dramatic improvement in the understanding of the molecular alterations driving cellular signaling and biochemical changes determining the survival advantage, stimulation of proliferation, and impairment of cellular differentiation of leukemic cells. These molecular alterations influence clinical outcomes and provide potential targets for drug development. Among these alterations, an important role is played by two mutant enzymes of the citric acid cycle, isocitrate dehydrogenase (IDH), IDH1 and IDH2, occurring in about 20% of AMLs, which leads to the production of an oncogenic metabolite R-2-hydroxy-glutarate (R-2-HG); this causes a DNA hypermethylation and an inhibition of hematopoietic stem cell differentiation. IDH mutations differentially affect prognosis of AML patients following the location of the mutation and other co-occurring genomic abnormalities. Recently, the development of novel therapies based on the specific targeting of mutant IDH may contribute to new effective treatments of these patients. In this review, we will provide a detailed analysis of the biological, clinical, and therapeutic implications of IDH mutations.

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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: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]

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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]

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 [Gene expression analysis]

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Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias.

Project description:Gene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.We searched for mutations in the ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in 65 myelodysplastic syndromes (MDSs) and 64 acute myeloid leukemias (AMLs) without balanced translocation or complex karyotype.Mutations in ASXL1 and CBL were frequent in refractory anemia with excess of blasts. Mutations in TET2 occurred with similar frequency in MDSs and AMLs and associated equally with either ASXL1 or NPM1 mutations. Mutations of RUNX1 were mutually exclusive with TET2 and combined with ASXL1 but not with NPM1. Mutations in FLT3 (mutation and internal tandem duplication), IDH1, IDH2, NPM1 and WT1 occurred primarily in AMLs.Only 14% MDSs but half AMLs had at least two mutations in the genes studied. Based on the observed combinations and exclusions we classified the 12 genes into four classes and propose a highly speculative model that at least a mutation in one of each class is necessary for developing AML with simple or normal karyotype.

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Immune Therapies for Myelodysplastic Syndromes and Acute Myeloid Leukemia.

Project description:Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) are hematologic malignancies arising from the bone marrow. Despite recent advances in treating these diseases, patients with higher-risk MDS and AML continue to have a poor prognosis with limited survival. It has long been recognized that there is an immune component to the pathogenesis of MDS and AML, but until recently, immune therapies have played a limited role in treating these diseases. Immune suppressive therapy exhibits durable clinical responses in selected patients with MDS, but the question of which patients are most suitable for this treatment remains unclear. Over the past decade, there has been remarkable progress in identifying genomic features of MDS and AML, which has led to an improved discernment of the molecular pathogenesis of these diseases. An improved understanding of immune and inflammatory molecular mechanisms of MDS and AML have also recently revealed novel therapeutic targets. Emerging treatments for MDS and AML include monoclonal antibodies such as immune checkpoint inhibitors, bispecific T-cell-engaging antibodies, antibody drug conjugates, vaccine therapies, and cellular therapeutics including chimeric antigen receptor T-cells and NK cells. In this review, we provide an overview of the current understanding of immune dysregulation in MDS and AML and an update on novel immune therapies for these bone marrow malignancies.

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