ABSTRACT: Clonal hematopoiesis was investigated in patients with aplastic anemia using next-generation sequencing and single-nucleotide polymorphism (SNP) array-based karyotyping.
Project description:Clonal hematopoiesis was investigated in patients with aplastic anemia using next-generation sequencing and single-nucleotide polymorphism (SNP) array-based karyotyping.
Project description:Bulk RNA-seq data of Lin-CD34+ hematopoietic stem and progenitor cells derived from bone marrow of healthy donors and untreated aplastic anemia patients
Project description:We recently mapped 605 chromosomal breakpoints in 61 ATL cases by spectral karyotyping and identified chromosome 14q11 as one of the most common chromosomal breakpoint regions. To map the precise location of chromosomal breakpoints at 14q11, we performed single-nucleotide polymorphism (SNP)-based comparative genomic hybridization on leukemia cells from acute-type ATL patients.
Project description:Fanconi anemia (FA) is a rare inherited disease complicated by aplastic anemia. There is evidence that hematopoietic stem cells have lost self replicative capacity and undergo apoptosis when exposed to inhibitory cytokines including interferon gamma and tumor necrosis factor-alpha. We used gene expression microarrays to identify transcriptomal differences between bone marrow cells from normal volunteers and from children and adults with Fanconi anemia
Project description:Renal tumors with complex morphology require extensive workup for accurate classification. Chromosomal aberrations that define subtypes of renal epithelial neoplasms have been reported. We explored if whole-genome chromosome copy number and loss-of-heterozygosity analysis with single nucleotide polymorphism (SNP) arrays can be used to identify these aberrations in cases where morphology was unable to definitively classify these tumors. Keywords: Chromosome copy number and LOH analysis (virtual karyotyping) with SNP Genotyping Arrays Keywords: Genome variation profiling by SNP array
Project description:Transcriptome analysis of hematopoietic stem and progenitor cells (HSPCs) and T cells collected from bone marrow and peripheral blood of healthy donors and aplastic anemia patients untreated or response to immunosuppressive therapy.
Project description:Detectable clonal mosaicism for large chromosomal events has been associated with aging and increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders such as Fanconi anemia (FA) could manifest a high rate of chromosomal mosaic events (CMEs) in peripheral blood, which could be used as early biomarkers of cancer risk. We studied the prevalence of CMEs by Single-Nucleotide Polymorphism (SNP) array in 130 FA patients’ blood DNA and their impact on cancer risk. We detected 51 CMEs (4.4-159Mb in size) in 16/130 patients (12.3%), 9 of them with multiple CMEs. Most frequent events were gains at 3q (n=6) and 1q (n=5), both previously associated with leukemia, as well as rearrangements with breakpoint clustering within the Major Histocompatibility Complex (MHC) locus (p=7.3x10-9). Compared to 15743 age-matched population controls, FA patients had 126-140 higher risk of detectable CMEs in blood (p<2.2x10-16). Prevalent and incident hematologic and solid cancers were more common in CME carriers (OR=11.6, CI95%=3.4-39.3, p=2.8x10-5), leading to poorer prognosis. The age-adjusted hazard risk (HR) of having cancer was almost 5 times higher in FA individuals with CMEs than in those without CMEs. Regarding survival, the HR of dying was 4 times higher in FA individuals having CMEs (HR=4.0, CI95%=2.0-7.9, p=5.7x10-5). Therefore, our data suggests that molecular karyotyping with SNP arrays in easy-to-obtain blood samples could be used for better monitoring of bone marrow clonal events, cancer risk and overall survival of FA patients.
