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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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Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. This review discusses the major complications that develop as the patients with ...
Source: Blood - Category: Hematology Authors: Tags: Hematopoiesis and Stem Cells, Transplantation, Review Articles, Clinical Trials and Observations Source Type: research
• In myelodysplastic syndromes, the disease-initiating cell is a rare hematopoietic stem cell which transmits the genetic abnormalities to its myeloid and lymphoid progeny.• The heterogeneity of MDS phenotypes is related to the diversity of genetic, the various combinations and order of mutation s in cooperating genes, and the variegation of clonal hematopoietic hierarchy.• A mutation in granulo-monocytic progenitor may the transformation into acute myeloid leukemia.
Source: Experimental Hematology - Category: Hematology Authors: Tags: Review Source Type: research
AbstractChronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. Patients with CGD are at increased risk of life-threatening infections with catalase-positive bacteria and fungi and inflammatory complications such as CGD colitis. The implementation of routine antimicrobial prophylaxis and the advent of azole antifungals has considerably improved overall survival. Nevertheless, life expectancy remains decreased compared to the general population. Inflammatory complications are a...
Source: Advances in Therapy - Category: Drugs & Pharmacology Source Type: research
Myeloid sarcoma (MS), also referred to as chloroma or granulocytic sarcoma, is a rare extramedullary malignant tumor composed of immature myeloid cells. MS usually occurs with acute myelocytic leukemia (AML), myeloproliferative neoplasm, or myelodysplastic syndrome, or as a recurrence of AML; however, MS may occasionally present isolated, without current or previous peripheral blood or bone marrow involvement. The oral and maxillofacial MS, especially isolated, is extremely rare, and the clinical manifestations are diverse and usually non-specific.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: Oral Medicine Source Type: research
Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts, Published online: 20 November 2017; doi:10.1038/s41408-017-0016-9
Source: Blood Cancer Journal - Category: Hematology Authors: Source Type: research
We present the clinical case of a 26 year-old male with dendritic ulcers in his cornea, marrow aplasia and idiopathic chronic lymphedema. He was diagnosed with GATA2 deficiency. GATA2 gene is critical for the genesis and function of hematopoietic stem cells. Its deficiency can cause myelodysplastic syndromes, congenital lymphedema and severe viral infections. Our patient presented these three manifestations, added to a deletion in 20q12 that confirmed the suspicion of GATA2 mutation. A bone marrow transplant was suggested as definitive treatment. The corneal herpetic epithelial lesion was analogous to a regular hepetic ker...
Source: Saudi Journal of Ophthalmology - Category: Opthalmology Source Type: research
Authors: Ertz-Archambault N, Kelemen K Abstract Based on the current WHO Classification of Myeloid Neoplasms, cytogenetic findings play a central role in the diagnostic classification of the myeloid malignancies. Cytogenetic abnormalities detected at primary diagnosis may change over time. Karyotype changes can be characterized as cytogenetic evolution, cytogenetic regression or a combination of both. While the exact mechanism of cytogenetic evolution is not completely understood, the process of cytogenetic evolution is not random, but follows different, and often disease-specific patterns during progression and re...
Source: Panminerva Medica - Category: General Medicine Tags: Panminerva Med Source Type: research
In conclusion, MYD88L265P mutation does not appear to be a determinant of outcome, and its presence may not be a disease‐defining feature in WM. Our findings warrant external validation, preferably through prospective studies.
Source: American Journal of Hematology - Category: Hematology Authors: Tags: RESEARCH ARTICLE Source Type: research
Source: Annals of Hematology - Category: Hematology Source Type: research
CONCLUSION: Diagnosis of t-MN should be suspected in patients with a history of receiving cytotoxic agents and/or irradiation. In this case study, we diagnosed t-MN with KMT2A rearrangement in a patient with history of B-ALL with 9p deletion and gain of X chromosome. Unusual features associated with this case are discussed. PMID: 29155023 [PubMed - as supplied by publisher]
Source: Experimental and Molecular Pathology - Category: Pathology Authors: Tags: Exp Mol Pathol Source Type: research
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