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Myelodysplastic syndrom

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https://www.readbyqxmd.com/read/28087715/sf3b1-hsh155-heat-motif-mutations-affect-interaction-with-the-spliceosomal-atpase-prp5-resulting-in-altered-branch-site-selectivity-in-pre-mrna-splicing
#1
Qing Tang, Susana Rodriguez-Santiago, Jing Wang, Jia Pu, Andrea Yuste, Varun Gupta, Alberto Moldón, Yong-Zhen Xu, Charles C Query
Mutations in the U2 snRNP component SF3B1 are prominent in myelodysplastic syndromes (MDSs) and other cancers and have been shown recently to alter branch site (BS) or 3' splice site selection in splicing. However, the molecular mechanism of altered splicing is not known. We show here that hsh155 mutant alleles in Saccharomyces cerevisiae, counterparts of SF3B1 mutations frequently found in cancers, specifically change splicing of suboptimal BS pre-mRNA substrates. We found that Hsh155p interacts directly with Prp5p, the first ATPase that acts during spliceosome assembly, and localized the interacting regions to HEAT (Huntingtin, EF3, PP2A, and TOR1) motifs in SF3B1 associated with disease mutations...
December 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/28076892/impact-of-achievement-of-complete-cytogenetic-response-on-outcome-in-patients-with-myelodysplastic-syndromes-treated-with-hypomethylating-agents
#2
Elias Jabbour, Paolo Strati, Monica Cabrero, Susan O'Brien, Farhad Ravandi, Carlos Bueso-Ramos, Qiao Wei, Jianhua Hu, Simon Abi Aad, Nicholas J Short, Courtney Dinardo, Naval Daver, Tapan Kadia, William Wierda, Yue Wei, Simona Colla, Gautam Borthakur, Jorge Cortes, Zeev Estrov, Hagop Kantarjian, Guillermo Garcia-Manero
We reviewed 216 consecutive patients with MDS and abnormal karyotype treated with hypomethylating agents between 4/04 and 10/12. Median follow-up was 17 months. Using IWG criteria, best responses were complete response (CR) in 79 patients (37%), partial response (PR) in 4 (2%), and hematologic improvement (HI) in 10 (5%). Cytogenetic response (CyR) was achieved in 78 patients (36%): complete (CCyR) in 62 (29%) and partial in 16 (7%). CyR was achieved in 48 of 79 patients (61%) with CR, 1 of 14 (7%) with PR/HI, and in 29 of the 123 (24%) with no morphologic response...
January 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28074069/myelodysplastic-syndromes-and-bone-loss-in-mice-and-men
#3
H Weidner, M Rauner, F Trautmann, J Schmitt, E Balaian, A Mies, S Helas, U Baschant, C Khandanpour, M Bornhäuser, L C Hofbauer, U Platzbecker
Leukemia accepted article preview online, 11 January 2017. doi:10.1038/leu.2017.7.
January 11, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28072603/dyserythropoiesis-of-myelodysplastic-syndromes
#4
Carine Lefèvre, Sabrina Bondu, Salomé Le Goff, Olivier Kosmider, Michaela Fontenay
PURPOSE OF REVIEW: Myelodysplastic syndromes (MDS) are heterogeneous diseases of the hematopoietic stem cell in the elderly. Anemia is the main symptom that mostly correlates with dysplastic erythropoiesis in the bone marrow. We will review the recent advances in understanding the diverse mechanisms of dyserythropoiesis. RECENT FINDINGS: Dyserythropoiesis defined as 10% dysplastic erythroid cells in the bone marrow is found in more than 80% of early MDS. Immature erythroblasts accumulate at the expense of mature erythroblasts due to differentiation arrest and apoptosis...
January 7, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28068180/clonal-hematopoiesis-associated-with-adverse-outcomes-after-autologous-stem-cell-transplantation-for-lymphoma
#5
Christopher J Gibson, R Coleman Lindsley, Vatche Tchekmedyian, Brenton G Mar, Jiantao Shi, Siddhartha Jaiswal, Alysia Bosworth, Liton Francisco, Jianbo He, Anita Bansal, Elizabeth A Morgan, Ann S Lacasce, Arnold S Freedman, David C Fisher, Eric Jacobsen, Philippe Armand, Edwin P Alyea, John Koreth, Vincent Ho, Robert J Soiffer, Joseph H Antin, Jerome Ritz, Sarah Nikiforow, Stephen J Forman, Franziska Michor, Donna Neuberg, Ravi Bhatia, Smita Bhatia, Benjamin L Ebert
Purpose Clonal hematopoiesis of indeterminate potential (CHIP) is an age-related condition characterized by somatic mutations in the blood of otherwise healthy adults. We hypothesized that in patients undergoing autologous stem-cell transplantation (ASCT) for lymphoma, CHIP at the time of ASCT would be associated with an increased risk of myelodysplastic syndrome and acute myeloid leukemia, collectively termed therapy-related myeloid neoplasm (TMN), and other adverse outcomes. Methods We performed whole-exome sequencing on pre- and post-ASCT samples from 12 patients who developed TMN after autologous transplantation for Hodgkin lymphoma or non-Hodgkin lymphoma and targeted sequencing on cryopreserved aliquots of autologous stem-cell products from 401 patients who underwent ASCT for non-Hodgkin lymphoma between 2003 and 2010...
January 9, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28067878/successful-haploidentical-bmt-with-post-transplant-cyclophosphamide-for-refractory-autoimmune-pancytopenia-after-cord-blood-transplant-in-pediatric-myelodysplastic-syndrome
#6
H Shima, K Isshiki, Y Yamada, F Yamazaki, T Takahashi, H Shimada
No abstract text is available yet for this article.
January 9, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28067246/mutant-u2af1-expressing-cells-are-sensitive-to-pharmacological-modulation-of-the-spliceosome
#7
Cara Lunn Shirai, Brian S White, Manorama Tripathi, Roberto Tapia, James N Ley, Matthew Ndonwi, Sanghyun Kim, Jin Shao, Alexa Carver, Borja Saez, Robert S Fulton, Catrina Fronick, Michelle O'Laughlin, Chandraiah Lagisetti, Thomas R Webb, Timothy A Graubert, Matthew J Walter
Somatic mutations in spliceosome genes are detectable in ∼50% of patients with myelodysplastic syndromes (MDS). We hypothesize that cells harbouring spliceosome gene mutations have increased sensitivity to pharmacological perturbation of the spliceosome. We focus on mutant U2AF1 and utilize sudemycin compounds that modulate pre-mRNA splicing. We find that haematopoietic cells expressing mutant U2AF1(S34F), including primary patient cells, have an increased sensitivity to in vitro sudemycin treatment relative to controls...
January 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28062906/programmed-cell-death-1-pathway-inhibition-in-myeloid-malignancies-implications-for-myeloproliferative-neoplasms
#8
REVIEW
D C Choi, D Tremblay, C Iancu-Rubin, J Mascarenhas
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic diseases that belong to the spectrum of myeloid malignancies (MyMs), which also include myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and chronic myelogenous leukemia (CML). While hematopoietic stem cell transplantation (HSCT) is a potentially curative therapeutic approach to many MyMs, the associated morbidity and mortality have necessitated the development of non-HSCT therapeutics for symptom management and disease course modification...
January 6, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28062854/sf3b1-mutations-associated-with-myelodysplastic-syndromes-alter-the-fidelity-of-branchsite-selection-in-yeast
#9
Tucker J Carrocci, Douglas M Zoerner, Joshua C Paulson, Aaron A Hoskins
RNA and protein components of the spliceosome work together to identify the 5' splice site, the 3' splice site, and the branchsite (BS) of nascent pre-mRNA. SF3b1 plays a key role in recruiting the U2 snRNP to the BS. Mutations in human SF3b1 have been linked to many diseases such as myelodysplasia (MDS) and cancer. We have used SF3b1 mutations associated with MDS to interrogate the role of the yeast ortholog, Hsh155, in BS selection and splicing. These alleles change how the spliceosome recognizes the BS and alter splicing when nonconsensus nucleotides are present at the -2, -1 and +1 positions relative to the branchpoint adenosine...
January 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#10
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28058097/genetics-and-epigenetics-of-myelodysplastic-syndromes-and-response-to-drug-therapy-new-insights
#11
REVIEW
Saeid Shahrabi, Abbas Khosravi, Mohammad Shahjahani, Fakher Rahim, Najmaldin Saki
Myelodysplastic syndromes (MDS) are a heterogeneous group of hematologic neoplasms ocurring mostly in the elderly. The clinical outcome of MDS patients is still poor despite progress in treatment approaches. About 90% of patients harbor at least one somatic mutation. This review aimed to assess the potential of molecular abnormalities in understanding pathogenesis, prognosis, diagnosis and in guiding choice of proper therapy in MDS patients. Papers related to this topic from 2000 to 2016 in PubMed and Scopus databases were searched and studied...
October 10, 2016: Oncology Reviews
https://www.readbyqxmd.com/read/28056398/clinical-outcome-of-myeloid-sarcoma-in-adult-patients-and-effect-of-allogeneic-stem-cell-transplantation-results-from-a-multicenter-survey
#12
Davide Lazzarotto, Anna Candoni, Carla Filì, Fabio Forghieri, Livio Pagano, Alessandro Busca, Giuseppina Spinosa, Maria Elena Zannier, Erica Simeone, Miriam Isola, Erika Borlenghi, Lorella Melillo, Federico Mosna, Federica Lessi, Renato Fanin
INTRODUCTION: Myeloid Sarcoma (MS) is a rare hematologic myeloid neoplasm that can involve any site of the body. It can occur as an exclusively extramedullary form or it can be associated with an acute myeloid leukemia (AML), a chronic myeloproliferative neoplasm (MPN) or a myelodysplastic syndrome (MDS) at onset or at relapse. The rarity of MS does not enable prospective clinical trials and therefore a specific multicenter register can be useful for the clinical and biological studies of this rare disease...
December 20, 2016: Leukemia Research
https://www.readbyqxmd.com/read/28056392/trends-of-classification-incidence-mortality-and-survival-of-mds-patients-in-switzerland-between-2001-and-2012
#13
Nicolas Bonadies, Anita Feller, Alicia Rovo, Axel Ruefer, Sabine Blum, Bernhard Gerber, Georg Stuessi, Rudolf Benz, Nathan Cantoni, Andreas Holbro, Adrian Schmidt, Thomas Lehmann, C Matthias Wilk, Volker Arndt
Myelodysplastic syndromes (MDS) are emerging disorders of the elderly with an increasing burden on healthcare systems. He we report on the first population-based, epidemiological analysis of patients diagnosed with MDS in Switzerland between 2001 and 2012. The aim of this study was to characterize the extent and limitations of currently available population-based, epidemiological data and formulate recommendations for future health services research. The investigated outcomes comprised trends of annual case frequency, classification of morphological subtypes, incidence, mortality and survival...
January 2, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28056320/-clinical-analysis-in-a-cohort-of-102-patients-with-myelodysplastic-syndrome-characterized-by-erythroid-hyperplasia
#14
Y Yu, A N Sun, S N Chen, Q R Wang, T T Zhang, D P Wu
Objective: To investigate the clinical and laboratorial characteristics of patients with myelodysplastic syndrome (MDS) and erythroid hyperplasia. Methods: MDS patients whose bone marrow was hypercellular with erythroid lineage more than 50% and blasts account for less than 20% of non-erythroid cells were enrolled in this study. The ratio of mature erythrocytes to nucleated erythrocytes was no more than 20, namely MDS patients with erythroid hyperplasia(MDS-E). The retrospective analysis comprised 102 patients with MDS-E from the First Affiliated Hospital of Suzhou University...
January 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28054397/conventional-cytogenetics-for-myeloid-neoplasms-in-the-era-of-next-generation-sequencing
#15
Frank C Kuo, David P Steensma, Paola Dal Cin
In this issue of the American Journal of Hematology, Weinberg et al.(1) discuss how multiple diagnostic techniques should be integrated in the diagnosis of acute myeloid leukemia (AML) and the risk stratification of patients.Ever since the discovery of Philadelphia chromosome more than 50 years ago(2) , conventional cytogenetic assays, including karyotype and fluorescent in situ hybridization (FISH), have played a critical role in classification, diagnosis and management of AML and other myeloid neoplasms. Most, if not all, of the recurrent chromosomal rearrangements commonly seen in AML are now well-described and the genes involved in these rearrangements have been identified...
January 5, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28052942/refractory-primary-immune-thrombocytopenia-with-subsequent-del-5q-mds-complete-remission-of-both-after-lenalidomide
#16
Thomas Bech Mortensen, Henrik Frederiksen, Claus Werenberg Marcher, Birgitte Preiss
A patient with refractory primary immune thrombocytopenia (ITP) characterised by severe skin and mucosal bleedings was treated with several ITP-directed therapies including cyclophosphamide. He later developed therapy-related del(5q) myelodysplastic syndrome with no dysplastic morphological features in bone marrow. He remained severely thrombocytopenic, which suggests ongoing immune mediated platelet destruction. After two 3 week cycles of low-dose lenalidomide, complete cytogenetic remission and complete normalisation of platelet count were observed...
January 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28052028/establishment-and-characterization-of-hypomethylating-agent-resistant-cell-lines-molm-aza-1-and-molm-dec-5
#17
Eun-Hye Hur, Seung-Hyun Jung, Bon-Kwan Goo, Juhyun Moon, Yunsuk Choi, Dae Ro Choi, Yeun-Jun Chung, Je-Hwan Lee
Two hypomethylating agents (HMAs), azacitidine and decitabine, have demonstrated clinical activities in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML); however, potential problems include development of acquired resistance. HMA-resistant patients have very poor prognosis and this cohort of patients constitutes an important area of research. To understand the mechanisms underlying HMA-resistance and to overcome it, we established an azacitidine-resistant cell line, MOLM/AZA-1 and a decitabine-resistant cell line, MOLM/DEC-5 using MOLM-13...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28042456/safety-and-efficacy-of-azacitidine-in-elderly-patients-with-intermediate-to-high-risk-myelodysplastic-syndromes
#18
REVIEW
Shyamala C Navada, Lewis R Silverman
Myelodysplastic syndromes (MDS) represent a clonal hematopoietic stem cell disorder characterized by morphologic features of dyspoiesis, a hyperproliferative bone marrow, and one or more peripheral blood cytopenias. In patients classified according to the Revised International Prognostic Scoring System (R-IPSS) with intermediate or higher-risk disease, there is an increased risk of death due to progressive bone marrow failure or transformation to acute myeloid leukemia (AML). Azacitidine was the first DNA hypomethylating agent approved by the United States (US) Food and Drug Administration (FDA) for the treatment of MDS and the only therapy that has demonstrated a significant survival benefit over conventional care regimens (CCRs) in patients with intermediate or higher-risk disease...
January 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28040723/the-impact-of-somatic-and-germline-mutations-in-myelodysplastic-syndromes-and-related-disorders
#19
Rafael Bejar, Peter L Greenberg
No abstract text is available yet for this article.
January 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28040720/myelodysplastic-syndromes-version-2-2017-nccn-clinical-practice-guidelines-in-oncology
#20
Peter L Greenberg, Richard M Stone, Aref Al-Kali, Stefan K Barta, Rafael Bejar, John M Bennett, Hetty Carraway, Carlos M De Castro, H Joachim Deeg, Amy E DeZern, Amir T Fathi, Olga Frankfurt, Karin Gaensler, Guillermo Garcia-Manero, Elizabeth A Griffiths, David Head, Ruth Horsfall, Robert A Johnson, Mark Juckett, Virginia M Klimek, Rami Komrokji, Lisa A Kujawski, Lori J Maness, Margaret R O'Donnell, Daniel A Pollyea, Paul J Shami, Brady L Stein, Alison R Walker, Peter Westervelt, Amer Zeidan, Dorothy A Shead, Courtney Smith
The myelodysplastic syndromes (MDS) comprise a heterogenous group of myeloid disorders with a highly variable disease course. Diagnostic criteria to better stratify patients with MDS continue to evolve, based on morphology, cytogenetics, and the presence of cytopenias. More accurate classification of patients will allow for better treatment guidance. Treatment encompasses supportive care, treatment of anemia, low-intensity therapy, and high-intensity therapy. This portion of the guidelines focuses on diagnostic classification, molecular abnormalities, therapeutic options, and recommended treatment approaches...
January 2017: Journal of the National Comprehensive Cancer Network: JNCCN
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