Project description:We performed single cell DNA sequencing by means of Tapestri platform on a mix of Peripheral Blood Mononuclear Cells (PBMCs) and CD34+ hematopoietic stem/progenitor cells (HSPCs) from a primary myelofibrosis (PMF). The main purpose of this project was to reconstruct the clonal composition of the neoplastic population by analyzing the mutational profile at the single-cell level.
Project description:Patient samples were analysed for the presence of genomic aberrations prior to ABMT and following relapse, in case it occurred, in patients with primary myelofibrosis.
Project description:We performed single cell RNA sequencing by means of 10X Genomics platform of CD34+ hematopoietic stem/progenitor cells (HSPCs) from primary myelofibrosis (PMF). Cells were isolated through immunomagnetic selection from frozen PBMCs coming from one patient with PMF who evolved to Acute Myeloid Leukemia (AML). Three timepoints were considered: chronic phase (Time1), after 8 months of Ruxolitinib treatment (Time2) and after 11 months of Ruxolitinib treatment at AML diagnosis (Time3). The main purpose of this project was to reconstruct the composition of the neoplastic clone in terms of HSPCs subpopulations at different time-points during disease evolution and to study changes in gene expression within each cell cluster over time.
Project description:To characterize the impact of chromatin remodelers’ mutations in MPN onset and development and identify regulatory elements driving gene expression modulations during disease progression, we performed a single-nucleus RNAseq coupled with single-cell ATACseq experiment on CD34+ cells from the chronic and blast phase of a Primary Myelofibrosis patient.
Project description:Myelofibrosis (MF) is a progressive, bone marrow (BM) malignancy associated with monocytosis, and is believed to promote the pathological remodelling of the extracellular matrix. Here, we show that the pathologic grading of MF was associated with inflammatory gene expression in primary patient samples.
Project description:Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) consist of primary myelofibrosis (PMF), polycythemia vera (PV), essential thrombocythemia (ET) and seconday myelofibrosis (SMF), comprising post-ET-MF(pET-MF) and post-PV-MF(pPV-MF). In this dataset, we compare the gene expression data of bone marrow or peripheral blood mononuclear cells (BMMCs/PBMCs) of CD34+ cells from MPN patients and healthy donors.
Project description:Myelofibrosis (MF) is a progressive, bone marrow (BM) malignancy associated with monocytosis, and is believed to promote the pathological remodelling of the extracellular matrix. Here, we show that the pathologic grading of MF was associated with inflammatory gene expression in primary patient samples.
Project description:Primary myelofibrosis (PMF) together with polycythemia vera (PV) and essential thrombocythemia (ET) belongs to the classic Philadelphia-negative myeloproliferative neoplasms (MPNs). PV and ET can evolve to secondary myelofibrosis (SMF) giving rise to post-PV (PPV) and post-ET (PET) myelofibrosis (MF). PMF and SMF patients are currently managed in the same way and prediction of survival is based on the same prognostic models, even if it has been demonstrated that they can’t accurately distinguish different risk categories in SMF. In the last few years interest grew concerning the ability of gene expression profiling (GEP) to provide valuable prognostic information for clinical decision making. To construct a molecular signature that can predict survival according to gene expression we studied GEP of granulocytes from 114 MF patients, including 35 prefibrotic/early PMF (Pre-PMF), 37 overt PMF (Overt-PMF), 26 PET and 16 PPV, using microarray platform.