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Expression of DNA repair genes are important molecular findings in CD34+ stem ‐cells of Myelodysplastic Sydrome

This article is protected by copyright. All rights reserved.
Source: European Journal of Haematology - Category: Hematology Authors: Tags: Letter to the Editor Source Type: research

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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
Abstract Despite the curative potential of allogeneic stem cell transplantation (allo-SCT) in patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), many patients will relapse. Until recently therapeutic options mainly consisted of palliative care, chemotherapy, donor lymphocyte infusions and second transplantation in selected cases. Still many patients either do not tolerate intensive therapies or do not achieve durable remissions and will finally succumb. Given this unmet medical need the hypomethylating agents (HMA), Azacitidine (Aza) and Decitabine (DAC) have been tested as salvage the...
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research
Laiz Cameir ão Bento, Rodolfo Patussi Correia, Cristóvão Luis Pitangueiras Mangueira, Rodrigo De Souza Barroso, Fernanda Agostini Rocha, Nydia Strachman Bacal, Luciana Cavalheiro Marti
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusions: Although our study was limited by the relatively small number of patients included, we identified several miRNAs associated with pathogenesis, leukemic transformation, and prognosis in MDS. PMID: 29132200 [PubMed - as supplied by publisher]
Source: The Korean Journal of Internal Medicine - Category: Internal Medicine Authors: Tags: Korean J Intern Med Source Type: research
This article is protected by copyright. All rights reserved.
Source: American Journal of Hematology - Category: Hematology Authors: Tags: Research Article Source Type: research
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