Researchers reveal developmental mechanisms behind rare bone marrow disorder

(Charit é - Universit ä tsmedizin Berlin) Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells. Researchers from Charit é - Universit ä tsmedizin Berlin have found that a mutation in a specific tumor suppressor gene is one possible reason why children with a very rare genetic disorder develop myelodysplastic syndrome. Results from this research have been published in the current edition of the Journal of Clinical Investigation.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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Conclusion: Targeted drug delivery assisted by genomic and proteomic data provides an adaptable model system that can be extended to effectively treat other cancers and diseases.
Source: Theranostics - Category: Molecular Biology Authors: Tags: Research Paper Source Type: research
British Journal of Haematology, EarlyView.
Source: British Journal of Haematology - Category: Hematology Authors: Source Type: research
Conditions:   Myelodysplastic Syndromes;   Hematopoietic Cell Transplant Intervention:   Behavioral: ePRO survey Sponsors:   Center for International Blood and Marrow Transplant Research;   Medical College of Wisconsin Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Authors: Shammo JM, Komrokji RS Abstract INTRODUCTION: Patients with myelodysplastic syndromes (MDS) are at increased risk of iron overload due to ineffective erythropoiesis and chronic transfusion therapy. The clinical consequences of iron overload include cardiac and/or hepatic failure, endocrinopathies, and infection risk. Areas covered: Iron chelation therapy (ICT) can help remove excess iron and ultimately reduce the clinical consequences of iron overload. The authors reviewed recent (last five years) English-language articles from PubMed on the topic of iron overload-related complications and the use of ICT (...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Cancer, EarlyView.
Source: Cancer - Category: Cancer & Oncology Authors: Source Type: research
Monosomy 7 (–7) and del(7q) are high-risk cytogenetic abnormalities common in myeloid malignancies. We previously reported that CUX1, a homeodomain-containing transcription factor encoded on 7q22, is frequently inactivated in myeloid neoplasms, and CUX1 myeloid tumor suppressor activity is conserved from humans to Drosophila. CUX1-inactivating mutations are recurrent in clonal hematopoiesis of indeterminate potential as well as myeloid malignancies, in which they independently carry a poor prognosis. To determine the role for CUX1 in hematopoiesis, we generated 2 short hairpin RNA-based mouse models with ~54% (Cux1mi...
Source: Blood - Category: Hematology Authors: Tags: Hematopoiesis and Stem Cells, Myeloid Neoplasia Source Type: research
tti A PMID: 29903759 [PubMed - as supplied by publisher]
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
Abstract Accumulating clinical evidence implicates a suppressive effect on hematopoiesis in myelodysplastic syndrome patients with iron overload. However, how iron overload influences hematopoiesis in myelodysplastic syndrome remains unknown. Here, the RUNX1S291fs-transduced bone marrow mononuclear cells were yielded and transplanted into lethally irradiated recipient mice together with radioprotective bone marrow cells to generate myelodysplastic syndrome mice. Eight weeks post transplantation, the recipient mice were administered intraperitoneal injection of 0.2 ml iron dextran at a concentration of 25mg/ml once...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
We report the results of a prospective trial of lirilumab in patients with myelodysplastic syndrome(MDS). A total of 10 patients included. Higher-risk patients received lirilumab plus azacitidine, lower-risk received single agent lirilumab. Two patients achieved CR and 5 achieved marrow CR. Although the small sample size precludes definitive conclusions, the results of this study indicate the efficacy and safety of lirilumab in MDS.
Source: Clinical Lymphoma, Myeloma and Leukemia - Category: Hematology Authors: Tags: Original Study Source Type: research
AbstractRecently, an immunodeficiency syndrome caused by guanine-adenine-thymine-adenine 2 (GATA2) deficiency has been described. The syndrome is characterized by (i) typical onset in early adulthood, (ii) profound peripheral blood cytopenias of monocytes, B lymphocytes, and NK cells, (iii) distinct susceptibility to disseminated non-tuberculous mycobacterial (NTM) and other opportunistic infections (particularly human papillomavirus), and (iv) a high risk of developing hematologic malignancies (myelodysplastic syndromes (MDS); acute myeloid leukemias (AML)). Considerable clinical heterogeneity exists among patients withGA...
Source: Annals of Hematology - Category: Hematology Source Type: research
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