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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Authors: Bewersdorf JP, Stahl M, Zeidan AM Abstract Key paper evaluation: Craddock C, et al. Combination Lenalidomide and Azacitidine: A Novel Salvage Therapy in Patients Who Relapse After Allogeneic Stem-Cell Transplantation for Acute Myeloid Leukemia. J Clin Oncol. 2019; 37: 580-8. Allogeneic hematopoietic stem cell transplant (allo-HSCT) is the only potentially curative treatment for acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). However, most patients relapse after allo-HSCT and treatment options are limited. Craddock et al. reported recently in the Journal of Clinical Oncology results from a ...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
CONCLUSIONS: The current study may serve as a preliminary data to suggest that the addition of LEN may offer incremental benefit to patients with high-risk MDS, AML and CMML. However, randomized-controlled studies that directly compare the efficacy and adverse events of AZA-plus-LEN regimen versus AZA monotherapy are still needed. PMID: 31221030 [PubMed - in process]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research
Conclusion: WT1 expression might be useful for distinguishing between myelodysplastic syndrome and aplastic anemia in children. PMID: 31210595 [PubMed - in process]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research
This study was performed to assess the utility of tumor-derived fragmentary DNA, or circulating tumor DNA (ctDNA), for identifying high-risk patients for relapse of acute myeloid leukemia and myelodysplastic syndrome (AML/MDS) after undergoing myeloablative allogeneic hematopoietic stem cell transplantation (alloSCT). We retrospectively collected tumor and available matched serum samples at diagnosis and 1 and 3 months post-alloSCT from 53 patients with AML/MDS. After identifying driver mutations in 51 patients using next-generation sequencing, we designed at least 1 personalized digital polymerase chain reaction assay per...
Source: Blood - Category: Hematology Authors: Tags: Transplantation, Myeloid Neoplasia, Clinical Trials and Observations Source Type: research
Immune-mediated processes are considered important in the pathogenesis of bone marrow failure syndromes (BFS). We previously reported that natural killer group 2D (NKG2D) ligands were expressed on pathological blood cells of patients with BFS and that NKG2D immunity may be involved in bone marrow failure. In addition to membranous NKG2D ligands on the cell surface, soluble NKG2D ligands can exist in plasma. We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, and paroxysmal noctu...
Source: Acta Haematologica - Category: Hematology Source Type: research
Abstract Immune-mediated processes are considered important in the pathogenesis of bone marrow failure syndromes (BFS). We previously reported that natural killer group 2D (NKG2D) ligands were expressed on pathological blood cells of patients with BFS and that NKG2D immunity may be involved in bone marrow failure. In addition to membranous NKG2D ligands on the cell surface, soluble NKG2D ligands can exist in plasma. We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, an...
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research
Series Type : Expression profiling by high throughput sequencing ; Expression profiling by arrayOrganism : Homo sapiensThis SuperSeries is composed of the SubSeries listed below.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Expression profiling by array Homo sapiens Source Type: research
Contributors : Sabrina Bondu ; Anne-Sophie Alary ; Carine Lef èvre ; Alexandre Houy ; Grace Jung ; Thibaud Lefebvre ; David Rombaut ; Ismael Boussaid ; Abderrahmane Bousta ; François Guillonneau ; Prunelle Perrier ; Samar Alsafadi ; Michel Wassef ; Raphaël Margueron ; Alice Rousseau ; Nathalie Droin ; Nicolas Cagnard ; Sophie Kaltenbach ; Sus ann Winter ; Anne-Sophie Kubasch ; Didier Bouscary ; Valeria Santini ; Andrea Toma ; Mathilde Hunault ; Aspasia Stamatoullas ; Emmanuel Gyan ; Thomas Cluzeau ; Uwe Platzbecker ; Lionel Adès ; Hervé Puy ; Marc-Henri Stern ; Zoubida Karim ; Patrick Mayeu...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
AbstractMyelodysplastic syndromes are clonal hematopoietic stem cell disorders characterized by cytopenia and intramedullary apoptosis. BCL-2 Ovarian Killer (BOK) is a pro-apoptotic member of the BCL-2 family of proteins which, when stabilized from endoplasmic reticulum-associated degradation (ERAD), induces apoptosis in response to ER stress. Although ER stress appropriately activates the unfolded protein response (UPR) in BOK-disrupted cells, the downstream effector signaling that includes ATF4 is defective. We used Nup98-HoxD13 (NHD13) transgenic mice to evaluate the consequences of BOK loss on hematopoiesis and leukemo...
Source: Annals of Hematology - Category: Hematology Source Type: research
Authors: Clarke K, Young C, Liberante F, McMullin MF, Thompson A, Mills K Abstract Myelodysplastic syndromes (MDS) are a heterogeneous, clonal haematopoietic disorder, with ~1/3 of patients progressing to acute myeloid leukaemia (AML). Many elderly MDS patients do not tolerate intensive therapeutic regimens, and therefore have an unmet need for better tolerated therapies. Epigenetics is important in the pathogenesis of MDS/AML with DNA methylation, and histone acetylation the most widely studied modifications. Epigenetic therapeutic agents have targeted the reversible nature of these modifications with some clinica...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
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