Ataluren ‐driven Restoration of Shwachman‐Bodian‐Diamond Syndrome Protein Function in Shwachman‐Diamond Syndrome Bone Marrow Cells

This article is protected by copyright. All rights reserved.
Source: American Journal of Hematology - Category: Hematology Authors: Tags: Research Article Source Type: research

Related Links:

ConclusionIn patients with acute myeloid leukaemia or high ‐risk myelodysplastic syndrome, bone marrow mononuclear cell telomere length increased from diagnosis to remission. Furthermore, telomere length paradoxically was longer at higher age at diagnosis, even after adjusting for known risk factors of disease severity. Finally, we did not detect any prog nostic information in telomere length.This article is protected by copyright. All rights reserved.
Source: European Journal of Haematology - Category: Hematology Authors: Tags: Original Article Source Type: research
Conclusion: Pulmonary fungal infections are resistant to treatments for hematological malignancies. Since the treatment of the underlying disease is extended and these infections often recur and are exacerbated, surgery should be considered when possible. PMID: 30402396 [PubMed]
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research
Acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are associated with disease-initiating stem cells that are not eliminated by conventional therapies. Transcriptomic analysis of stem and progenitor populations in MDS and AML demonstrated overexpression of STAT3 that was validated in an independent cohort. STAT3 overexpression was predictive of a shorter survival and worse clinical features in a large MDS cohort. High STAT3 expression signature in MDS CD34+ cells was similar to known preleukemic gene signatures. Functionally, STAT3 inhibition by a clinical, antisense oligonucleotide, AZD9150, led to reduced v...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Abstract Clonal hematopoiesis (CH), in which stem cell clones dominate blood production, becomes increasingly common with age and can presage malignancy development. The conditions that promote ascendancy of particular clones are unclear. We found that mutations in PPM1D (protein phosphatase Mn2+/Mg2+-dependent 1D), a DNA damage response regulator that is frequently mutated in CH, were present in one-fifth of patients with therapy-related acute myeloid leukemia or myelodysplastic syndrome and strongly correlated with cisplatin exposure. Cell lines with hyperactive PPM1D mutations expand to outcompete normal cells ...
Source: Cell Stem Cell - Category: Stem Cells Authors: Tags: Cell Stem Cell Source Type: research
Authors: Rahmé R, Adès L Abstract INTRODUCTION: Myelodysplastic syndromes (MDS) are clonal stem cell disorders mostly affecting the elderly. They are classified into lower and higher risk MDS according to prognostic scoring systems. In higher-risk patients, treatments should aim to modify the disease course by avoiding progression to acute myeloid leukemia, and therefore to improve survival. Areas covered: Stem cell transplantation remains the only curative treatment when feasible, but this concerns a small minority of patients. Treatment is principally based on hypomethylating agents (HMAs). Our unde...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Conclusion: The "Clo-Baltimore regimen" is safe and feasible and provides good survivals for patients with myeloid malignancies and haplo-donors. Methods: Here, we report a variant of the Baltimore regimen, where 1) fludarabine was replaced by clofarabine, 2) bone marrow was replaced by peripheral blood stem cells, and 3) tacrolimus was replaced by cyclosporine, in a "Clo-Baltimore regimen". PMID: 30323896 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Purpose of review Myelodysplastic syndromes (MDSs) are rare disorders in children, showing peculiar clinical manifestations and biological features. This review will summarize biological, genetic and clinical features of childhood MDS and will provide an update of the algorithm of treatment of the different disease variants. Recent findings The most recent classification of MDS includes refractory cytopenia of childhood (RCC), advanced and therapy-related MDS. Importantly, in children, these clonal hematopoietic disorders may be often associated with inherited bone marrow failure syndromes, this representing a challen...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: HEMATOLOGIC MALIGNANCIES: Edited by Miguel A. Sanz Source Type: research
Purpose of review The monitoring of minimal residual disease (MRD) has important clinical implications in both the pre and postallogeneic stem cell transplant (SCT) setting in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Next-generation sequencing (NGS) is a rapidly improving technology whose application to the monitoring of MRD is an active area of research. We aim to describe existing methods of MRD in AML and MDS, with a focus on the utility of NGS in patients undergoing SCT. Recent findings Flow cytometry and quantitative PCR have been recommended by the European Leukemia Net as the preferred m...
Source: Current Opinion in Hematology - Category: Hematology Tags: HEMATOPOIETIC STEM CELL TRANSPLANTATION: Edited by Armand Keating Source Type: research
The myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders that lead to bone marrow failure and an increased risk of progression to acute myelogenous leukemia (AML). As many as one in 1000 Canadians over the age of 65 years may be affected [1], and data from the Surveillance, Epidemiology, and End Results (SEER) Program in the United States (US) indicates an MDS incidence up to 4.5 per 100,000 per year, or 10,000 or more new MDS diagnoses yearly [2]. The incidence of MDS increases with age, with 0.5, 5.3, 15, 49, and 89 cases per 100,000 in the age groups
Source: Leukemia Research - Category: Hematology Authors: Source Type: research
Patients with myelodysplastic syndromes (MDS) show heterogeneous clinical features with variation in ineffective hematopoiesis, morphological dysplasia, and progression to acute myeloid leukemia (AML) [1]. MDS arises from abnormal hematopoietic stem cells, with detectable somatic mutations in virtually all patients [2,3], and recent studies also showed that germline mutations are found in a portion of MDS [4,5]. These results clearly demonstrate that the genomic status is highly influential on clinical features of MDS [3].
Source: Leukemia Research - Category: Hematology Authors: Tags: Research paper Source Type: research
More News: Acute Leukemia | Acute Myeloid Leukemia | Clinical Trials | Genetics | Hematology | Leukemia | Myelodysplastic Syndrome | Pancreas | Stem Cell Therapy | Stem Cells