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Finding structural variation and functional consequences from primary acute myeloid leukemia cells with complex karyotype (CK-AML) at the single-cell level

ABSTRACT: In this study, we aimed to extend our understanding of the intra-tumor heterogeneity evolution in CK-AML and exemplify the translational relevance of single-cell clonal evolution analyses. To achieve this, we leveraged two single-cell multi-omics frameworks, scNOVA and CITE-seq, to link genotype, epigenome and phenotype of four primary CK-AML patients, and coupled this with functional xenotransplantation assays.

PROVIDER: EGAS00001007436 | EGA |

REPOSITORIES: EGA

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Finding structural variation and functional consequences from the primary leukemia cells (AML) at the single-cell level

Project description:In this study, we aimed to identify somatic structural variation of acute myeloid leukemia (AML) at the single-cell level and investigate its direct consequence on the nucleosome occupancy using scNOVA approach. For this purpose, we performed strand-specific single-cell sequencing of primary leukemia samples from 32 year old male donor.

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CITE-seq (cellular indexing of transcriptomes and epitopes by sequencing) of WT and RAS mutant specimens from acute myeloid leukemia (AML) patients.

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Finding new Chimeric RNAs in RNA-seq data, a test study in Acute Myeloid Leukemia patient cells

Project description:In this strudy, we seek out new chimeric RNA in RNA-seq data from acute myeloid leukemia (AML) patient cells as new biomarkers to improve diagnosis and prognosis in cancer. Total RNA were extracted from bone marrow or peripheral blood mononuclear cells in three AML patients. polyA+ cDNAs were sequenced to generate stranded paired-end reads. RNA-seq analyses were performed using Crac and CracTools software. In particular using these tools, we classified chimeric RNA in four classes, finding new chimeric RNAs. By analysis a larger cohort by qPCR, we were able to define new chimeric RNA as new biomarkers in AML patients.

2017-06-28 | E-MTAB-5767 | biostudies-arrayexpress

Gene expression profile at single cell level of fixed CD55+ myeloid progenitors

Project description:Murine bone marrow CD55+ myeloid progenitors were fixed and submitted to Flex ScRNA-seq with CITE-seq in order to investigate eosinophil ontogeny and development.

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Convergent Epigenetic Evolution Drives Relapse in Acute Myeloid Leukemia

Project description:Relapse of acute myeloid leukemia (AML) is highly aggressive and often treatment refractory. We analyzed previously published AML relapse cohorts and found that 40% of relapses occur without changes in driver mutations, suggesting that non-genetic mechanisms drive relapse in a large proportion of cases. We therefore characterized epigenetic patterns of AML relapse using 26 matched diagnosis-relapse samples with ATAC-seq. This analysis identified a relapse-specific chromatin accessibility signature for mutationally stable AML, suggesting that AML undergoes epigenetic evolution at relapse independent of mutational changes. Analysis of leukemia stem cell (LSC) chromatin changes at relapse indicated that this leukemic compartment underwent significantly less epigenetic evolution than non-LSCs, while epigenetic changes in non-LSCs reflected overall evolution of the bulk leukemia. Finally, we used single-cell ATAC-seq paired with mitochondrial sequencing (mtscATAC) to map clones from diagnosis into relapse along with their epigenetic features. We found that distinct mitochondrially-defined clones exhibit more similar chromatin accessibility at relapse relative to diagnosis, demonstrating convergent epigenetic evolution in relapsed AML. These results demonstrate that epigenetic evolution is a feature of relapsed AML and that convergent epigenetic evolution can occur following treatment with induction chemotherapy.

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Gene expression data from sorted and unsorted primary human acute myeloid leukemia (AML) samples

Project description:Experiments using xenografts show that some solid tumours and leukemias are organized as cellular hierarchies sustained by cancer stem cells (CSC). Despite promise, the relevance of the CSC model to human disease remains uncertain. Here we show that acute myeloid leukemia (AML) follows a CSC model based on sorting multiple populations from each of 16 primary human AML samples and identifying which contain leukemia stem cells (LSC) using a sensitive xenograft assay. Analysis of gene expression from all functionally validated populations yielded an LSC-specific signature. Similarly, a hematopoietic stem cell (HSC) gene signature was established. Bioinformatic analysis identified a core transcriptional program shared by LSC and HSC, revealing the molecular machinery underlying stemness properties. Both stem cell programs were highly significant independent predictors of patient survival and also found in existing prognostic signatures. Thus, determinants of stemness influence clinical outcome of AML establishing that LSC are clinically relevant and not mere artifacts of xenotransplantation. Analysis of gene expression in FACS sorted AML fractions that were functionally determined to be enriched for LSC or not (25 and 29 respectively).

2011-08-27 | E-GEOD-30375 | biostudies-arrayexpress

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Project description:BACKGROUND:Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life. If not treated with the pyrimidine precursor uridine, neutropenia, failure to thrive, growth retardation, developmental delay, and intellectual disability may ensue. METHODS AND RESULTS:We identified mild and isolated orotic aciduria in 11 unrelated individuals with diverse clinical signs and symptoms, the most common denominator being intellectual disability/developmental delay. Of note, none had blood count abnormalities, relevant hyperammonemia or altered plasma amino acid profile. All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with complete loss of function. The remaining variants were missense changes and predicted to be damaging to the normal encoded protein. Interestingly, family screening revealed heterozygous UMPS variants in combination with mild orotic aciduria in 19 clinically asymptomatic family members. CONCLUSIONS:We therefore conclude that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hypotonia and developmental delay are likely due to ascertainment bias.

| S-EPMC5393157 | biostudies-literature

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