SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS

SF3B1 is a core component of splicing machinery. Mutations in SF3B1 are frequently found in myelodysplastic syndromes (MDS), particularly in patients with refractory anemia with ringed sideroblasts (RARS), cha...
Source: Journal of Hematology and Oncology - Category: Hematology Authors: Tags: Research Source Type: research

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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
Myelodysplastic syndromes (MDS) are a heterogeneous group of hematological diseases of ineffective hematopoiesis with a risk for progression to acute myeloid leukemia (AML) [1,2]. More than 80% of individuals with MDS are 65 years old or older at the time of diagnosis [3]; the average age at diagnosis is 67 years old [4]. Anemia and fatigue are common in MDS, and are often managed through red blood cell transfusions. In addition, MDS can transform into AML requiring intensive chemotherapy and prolonged hospital stays of approximately 30 days [5], which can lead to severe toxicities and functional impairments [5 –8].
Source: Leukemia Research - Category: Hematology Authors: Source Type: research
Abstract Hematological diseases can lead to ocular manifestations. Retinal manifestation occurs in patients with anemia, leukemia, lymphoma, myeloproliferative and myelodysplastic syndromes. It is not uncommon for the ocular findings to be the first manifestation of the systemic disease. In these patients the correct diagnosis can be difficult because as a rule the retinal involvement is unspecific. In cases of unexplained retinal changes with hemorrhage and cotton wool spots, an underlying hematological disease should be suspected and the appropriate diagnostics should be recommended. PMID: 29881877 [PubMed ...
Source: Der Ophthalmologe - Category: Opthalmology Authors: Tags: Ophthalmologe Source Type: research
Aplastic anemia (AA) is an immune-mediated disorder that overlaps closely with clonal disorders, such as myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria (PNH). PIGA mutations in PNH clones and functional loss of HLA, including structural HLA mutations, likely represent immune escape clones and correlate with response to immunosuppressive therapy (IST). Somatic mutations typical for myeloid malignancies and age-related clonal hematopoiesis are detected in a proportion of AA patients, but their significance is unclear and seems to depend on whether patients are tested at diagnosis or after IST, patient age a...
Source: Hematology/Oncology Clinics of North America - Category: Cancer & Oncology Authors: Source Type: research
Publication date: Available online 23 May 2018 Source:Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology Author(s): Tomoya Soma, Seiji Asoda, Ryotaro Iwasaki, Hidetaka Miyashita, Mariko Inoue, Yuka Yamada, Kimio Uchiyama, Taneaki Nakagawa, Hiromasa Kawana Myelodysplastic syndrome is an acquired hematopoietic disorder showing symptoms of pre-leukemia and refractory anemia. In the tooth extraction process of such cases, bleeding tendency due to pancytopenia, infection etc., becomes a problem. As such, a cautious approach is required. We have confirmed platelet transfusion refractoriness prior to tooth extrac...
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - Category: ENT & OMF Source Type: research
Authors: Senjo H, Higuchi T, Morimoto M, Koyamada R, Yanaoka C, Okada S Abstract An 81-year-old Japanese man presented with constitutional symptoms and anemia and was diagnosed with giant cell arteritis (GCA) and myelodysplastic syndrome (MDS) simultaneously. His symptoms and anemia improved promptly with steroids; however, the MDS rapidly progressed to overt leukemia. While MDS patients are at an increased risk of autoimmune diseases, an association with GCA has rarely been reported. This case illustrates the importance of considering GCA as a cause of anemia in elderly patients if MDS is already diagnosed, even i...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Cardiac surgery for myelodysplastic syndrome (MDS) patients is challenging because anemia and neutropenia develop as a result of the syndrome, leading to infection and bleeding tendency during surgery. We repo...
Source: Journal of Cardiothoracic Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: Case report Source Type: research
British Journal of Haematology, EarlyView.
Source: British Journal of Haematology - Category: Hematology Authors: Source Type: research
American Journal of Hematology, EarlyView.
Source: American Journal of Hematology - Category: Hematology Authors: Source Type: research
CONCLUSION: A high prevalence of iron overload in this patient population in Latin American countries indicates that a better diagnosis and management of iron overload is required in these countries. PMID: 29663858 [PubMed - as supplied by publisher]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research
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