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myelodysplastic syndrome review

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https://www.readbyqxmd.com/read/28537910/techniques-for-detecting-chromosomal-aberrations-in-myelodysplastic-syndromes
#1
REVIEW
Qibin Song, Min Peng, Yuxin Chu, Shiang Huang
Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powerful molecular cytogenetic information to reveal copy number variation, uniparental disomy, and complex chromosomal aberrations in MDS...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28526957/cytomorphology-review-of-100-newly-diagnosed-lower-risk-mds-patients-in-the-european-leukemianet-mds-eumds-registry-reveals-a-high-inter-observer-concordance
#2
Louise de Swart, Alex Smith, Marius MacKenzie, Argiris Symeonidis, Judith Neukirchen, Dana Mikulenková, Teresa Vallespí, Gina Zini, Malgorzata Paszkowska-Kowalewska, Anton Kruger, Leonie Saft, Pierre Fenaux, David Bowen, Eva Hellström-Lindberg, Jaroslav Čermák, Reinhard Stauder, Aurelia Tatic, Mette Skov Holm, Luca Malcovati, Krzysztof Mądry, Jackie Droste, Nicole Blijlevens, Theo de Witte, Ulrich Germing
The European LeukemiaNet MDS (EUMDS) registry is collecting data of myelodysplastic syndrome (MDS) patients belonging to the IPSS low or intermediate-1 category, newly diagnosed by local cytologists. The diagnosis of MDS can be challenging, and some data report inter-observer variability with regard to the assessment of the MDS subtype. In order to ensure that correct diagnoses were made by the participating centres, blood and bone marrow slides of 10% of the first 1000 patients were reviewed by an 11-person panel of cytomorphologists...
May 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28525589/bone-marrow-involvement-in-systemic-lupus-erythematosus
#3
Emilie Chalayer, Nathalie Costedoat-Chalumeau, Odile Beyne-Rauzy, Jacques Ninet, Stephane Durupt, Jacques Tebib, Bouchra Asli, Olivier Lambotte, Martine Ffrench, Christian Vasselon, Pascal Cathébras
BACKGROUND: Besides peripheral cytopenias, bone marrow abnormalities, such as fibrosis, pure red cell aplasia, and aplastic anemia have been reported in patients with systemic lupus erythematosus (SLE), suggesting that bone marrow may be a target organ in SLE. Our objective was to describe this bone marrow involvement. METHODS: This registry is a nationwide retrospective study. Centers provided data concerning medical history, SLE manifestations, type of hematologic disorder, treatments and outcome...
May 19, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28497239/validation-of-the-revised-international-prognostic-scoring-system-in-patients-with-myelodysplastic-syndrome-in-japan-results-from-a-prospective-multicenter-registry
#4
Hiroshi Kawabata, Kaoru Tohyama, Akira Matsuda, Kayano Araseki, Tomoko Hata, Takahiro Suzuki, Hidekazu Kayano, Kei Shimbo, Yuji Zaike, Kensuke Usuki, Shigeru Chiba, Takayuki Ishikawa, Nobuyoshi Arima, Masaharu Nogawa, Akiko Ohta, Yasushi Miyazaki, Kinuko Mitani, Keiya Ozawa, Shunya Arai, Mineo Kurokawa, Akifumi Takaori-Kondo
The Japanese National Research Group on Idiopathic Bone Marrow Failure Syndromes has been conducting prospective registration, central review, and follow-up study for patients with aplastic anemia and myelodysplastic syndrome (MDS) since 2006. Using this database, we retrospectively analyzed the prognosis of patients with MDS. As of May 2016, 351 cases were registered in this database, 186 of which were eligible for the present study. Kaplan-Meier analysis showed that overall survival (OS) curves of the five risk categories stipulated by the revised international prognostic scoring system (IPSS-R) were reasonably separated...
May 11, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28479693/telomeres-in-health-and-disease
#5
REVIEW
Shailja Chatterjee
Telomeres are repetitive ribonucleoprotein complexes present at ends of chromosomes. To synthesize this manuscript, a thorough literature search was done using PubMed, MEDLINE and Cochrane review for English-language literature and data available from the period of 2005-2016 were analyzed for manuscript writing. Telomeres help in maintaining the cellular health, inbuilt cellular mechanisms, metabolism and normal cell cycle. Telomerase is a specialized enzyme that possesses catalytic subunits - reverse transcriptase, Terc and dyskerin...
January 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28470473/reduced-intensity-conditioning-of-allogeneic-hematopoietic-stem-cell-transplantation-for-myelodysplastic-syndrome-and-acute-myeloid-leukemia-in-patients-older-than-50%C3%A2-years-of-age-a-systematic-review-and-meta-analysis
#6
Zhi-Hui Zhang, Xin-Yue Lian, Dong-Ming Yao, Pin-Fang He, Ji-Chun Ma, Zi-Jun Xu, Hong Guo, Wei Zhang, Jiang Lin, Jun Qian
PURPOSE: A systematic review and meta-analysis were performed to explore the efficacy and safety of allogeneic hematopoietic stem cell transplantation with a reduced intensity conditioning regimen in elderly patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). METHODS: Overall survival (OS) and event-free survival (EFS) were established as the primary endpoints for directly assessing the efficacy, and non-relapse mortality (NRM) for safety...
May 3, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28461756/monosomal-karyotype-in-myeloid-neoplasias-a-literature-review
#7
REVIEW
Luisa Anelli, Crescenza Pasciolla, Antonella Zagaria, Giorgina Specchia, Francesco Albano
In 2008, the concept of the monosomal karyotype (MK) in adult acute myeloid leukemia (AML) patients was introduced, defined by the presence of a chromosomal aberration pattern characterized by the presence of at least two autosomal monosomies or of one monosomy plus one or more structural aberrations (not including loss of a chromosome). We present a systematic review of the literature about the influence of the MK on the outcome of patients affected by myeloid malignancies (AML, myelodysplastic syndromes, and primary myelofibrosis)...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28459701/mecom-evi1-rearrangements-a-review-and-case-report-of-two-mds-patients-with-complex-3q-inversion-deletions
#8
Helen Lawce, Elina Szabo, Yumi Torimaru, Craig Davis, Karin Osterberg, Susan Olson, Steve Moore
Acute myelogeneous leukemia (AML) with inv(3)/t(3;3)(q13q25) is associated with aberrant expression of the stem-cell regulator MECOM (aka EVI1). Two bone marrow samples received in the OHSU Knight Diagnostic Laboratories (KDL) Cytogenetics Laboratory for chromosomes and FISH for a question of progression of myelodysplastic syndrome (MDS) to AML showed complex abnormalities including a deletion of chromosome 3q, one with del(3)(q13q25) and the other with del(3)(q22q25). In light of the prognostic importance of the activation of the MECOM oncogene and the concurrent inactivation of the GATA2 tumor suppressor that occurs with the classic inversion of chromosome 3q, fluorescence in situ hybridization (FISH) was performed using two different probe designs to better define the 3q deletions in the two cases...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28455647/cmml-clinical-and-molecular-aspects
#9
REVIEW
Raphael Itzykson, Matthieu Duchmann, Nolwenn Lucas, Eric Solary
Chronic Myelomonocytic Leukemia is a chronic myeloid neoplasm occurring mostly in the elderly with overlapping features of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) characterized by chronic monocytosis. Recent progresses in the molecular and cellular pathogenesis of CMML have stirred a renewed interest in this clinically heterogeneous disorder. Here, we review the recent progresses in the biology of CMML and how it affects its current and future clinical management.
June 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28449370/the-burden-of-autoimmunity-in-myelodysplastic-syndromes
#10
REVIEW
Claudio Fozza
The clinical history of patients with myelodysplastic syndromes (MDS) is characterised by bone marrow insufficiency as well as by the possible evolution into acute leukaemia. However a number of reports highlight the frequent occurrence of autoimmune manifestations involving different sites and organs. The present review will first describe the clinical pictures most often observed in MDS patients. The actual burden of autoimmunity will be then addressed by focusing on the few available registry studies. Finally, the potential collateral impact of specific treatments for MDS on the evolution of autoimmune disorders will be considered...
April 27, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28446323/-role-of-aberrant-splicing-in-pathogenesis-of-myelodysplastic-syndromes-review
#11
Lin Li, Zhi-Jian Xiao, Xue-Mei Sun
The spectrum of genetic abnormalities in myelodysplastic syndromes(MDS) has been revealed by high-throughput sequencing. However, the functional role of these mutations in occurrence and development of MDS was not delineated. The mutations in splicing factors have been identified as the commonest gene mutations in MDS. Recently, it was reported that the mutated or dysregulated splicing factors, including SF3B1, SRSF2 and U2AF1, attribute to aberrant mRNA splicing, which leads to hematopoietic dysfunction and drives MDS...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28430954/increased-multinucleated-megakaryocytes-as-an-isolated-finding-in-bone-marrow-%C3%A2-a-rare-finding-and-its-clinical-significance
#12
Majd D Jawad, Ronald S Go, Kaaren K Reichard, Min Shi
Objectives: Multinucleated megakaryocytes are a unique morphologic form of megakaryocytes characterized by multiple, distinctly separated nuclei. We investigated whether increased multinucleated megakaryocytes (≥25%) in otherwise normal-appearing bone marrow were associated with the development of a myelodysplastic syndrome (MDS). Methods: We retrospectively reviewed the medical records and bone marrow biopsy specimens of patients evaluated at our institution from 2011 to 2015 that met all of the following criteria: (1) 25% or more multinucleated megakaryocytes, (2) no other dysplastic features, (3) absence of a myeloid neoplasm, and (4) absence of neoplastic karyotypic abnormalities...
November 1, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28419413/long-term-outcomes-secondary-malignancies-and-stem-cell-collection-following-bendamustine-in-patients-with-previously-treated-non-hodgkin-lymphoma
#13
Peter Martin, Zhengming Chen, Bruce D Cheson, Katherine S Robinson, Michael Williams, Saurabh A Rajguru, Jonathan W Friedberg, Richard H van der Jagt, Ann S LaCasce, Robin Joyce, Kristen N Ganjoo, Nancy L Bartlett, Bernard Lemieux, Ari VanderWalde, Jordan Herst, Jeffrey Szer, Michael H Bar, Fernando Cabanillas, Anthony J Dodds, Paul G Montgomery, Bryn Pressnail, Tricia Ellis, Mitchell R Smith, John P Leonard
Despite the long history of bendamustine as treatment for indolent non-Hodgkin lymphoma, long-term efficacy and toxicity data are minimal. We reviewed long-term data from three clinical trials to characterize the toxicity and efficacy of patients receiving bendamustine. Data were available for 149 subjects at 21 sites. The median age was 60 years at the start of bendamustine (range 39-84), and patients had received a median of 3 prior therapies. The histologies included grades 1-2 follicular lymphoma (FL; n = 73), grade 3 FL (n = 23), small lymphocytic lymphoma (n = 20), marginal zone lymphoma (n = 15), mantle cell lymphoma (n = 9), transformed lymphomas (n = 5), lymphoplasmacytic lymphoma (n = 2) and not reported (n = 2)...
April 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28388253/lenalidomide-in-the-treatment-of-chronic-lymphocytic-leukemia
#14
Gilad Itchaki, Jennifer R Brown
Lenalidomide is an immunomodulatory drug (IMiD) with a unique mode of action (MOA) that may vary across disease-type. It is currently approved in multiple myeloma (MM), myelodysplastic syndrome (MDS) and mantle cell lymphoma (MCL), yet is also clinically active in a host of lymphoproliferative diseases, including chronic lymphocytic leukemia (CLL). Due to its protean effects on the immune system, lenalidomide may be particularly appealing in CLL, which is distinct in its ability to evade immune recognition and cause immunosuppression...
May 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28359286/the-double-edged-sword-of-re-expression-of-genes-by-hypomethylating-agents-from-viral-mimicry-to-exploitation-as-priming-agents-for-targeted-immune-checkpoint-modulation
#15
REVIEW
Florian Wolff, Michael Leisch, Richard Greil, Angela Risch, Lisa Pleyer
Hypomethylating agents (HMAs) have been widely used over the last decade, approved for use in myelodysplastic syndrome (MDS), chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML). The proposed central mechanism of action of HMAs, is the reversal of aberrant methylation in tumor cells, thus reactivating CpG-island promoters and leading to (re)expression of tumor suppressor genes. Recent investigations into the mode of action of azacitidine (AZA) and decitabine (DAC) have revealed new molecular mechanisms that impinge on tumor immunity via induction of an interferon response, through activation of endogenous retroviral elements (ERVs) that are normally epigenetically silenced...
March 31, 2017: Cell Communication and Signaling: CCS
https://www.readbyqxmd.com/read/28359242/small-molecule-inhibitors-of-epigenetic-mutations-as-compelling-drug-targets-for-myelodysplastic-syndromes
#16
Bani Bandana Ganguly
BACKGROUND: Involvement of mutations in epigenetic mechanism in development of heterogeneous MDS and its evolution to AML has been understood with at least one mutation and median of 2-3 mutations of the landscapes of driver mutations in ~40 genes described >90% MDS patients. Exclusivity and cooperating effects of mutations have directed therapeutic implementation with hypomethylating agents and identified a number of first-in-class small molecules as inhibitors of mutational expression...
March 30, 2017: Current Cancer Drug Targets
https://www.readbyqxmd.com/read/28356770/breast-cancer-in-patients-with-li-fraumeni-syndrome-a-case-series-study-and-review-of-literature
#17
Amara G Nandikolla, Sangeetha Venugopal, Jesus Anampa
BACKGROUND: Li-Fraumeni Syndrome (LFS) is a rare disease with autosomal dominant inheritance linked to germline mutations of tumor suppressor gene TP53. These patients are predisposed to malignancies such as sarcoma, breast cancer, leukemia, and other malignancies. Breast cancer, the most common malignancy in adult patients with LFS, has an early-onset presentation and is usually treated as per the guidelines for the general population due to the limited literature about breast cancer in LFS...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28351181/prognostic-models-in-predicting-outcomes-in-myelodysplastic-syndromes-after-hypomethylating-agent-failure
#18
Sagar S Patel, Mikkael A Sekeres, Aziz Nazha
Myelodysplastic syndromes (MDS) are clonal stem cell disorders marked by bone marrow failure with varying degrees of cytopenias. MDS are characterized by the accumulation of complex genetic alterations that influence disease pathogenesis and outcomes. Given the heterogeneity of MDS patients, multiple prognostic scoring systems have been developed to predict patient outcomes. Most focus primarily on untreated patients in whom outcomes are predicted accurately only at diagnosis; their application dynamically, during the disease course and especially after hypomethylating agent (HMA) failure, may not be accurate...
March 28, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28343141/survival-outcomes-in-iron-chelated-and-non-chelated-patients-with-lower-risk-myelodysplastic-syndromes-review-and-pooled-analysis-of-observational-studies
#19
EDITORIAL
Ivo Abraham, Majed Al Yami, Seongseok Yun, Hee-Ju Kim, Nicole D Vincelette, Ali McBride, Karen MacDonald
No abstract text is available yet for this article.
March 18, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28321924/infectious-complications-in-patients-with-myelodysplastic-syndromes-a-review-of-the-literature-with-emphasis-on-patients-treated-with-5-azacitidine
#20
REVIEW
Markus Radsak, Uwe Platzbecker, Cornelia S Schmidt, Wolf-Karsten Hofmann, Florian Nolte
Myelodysplastic Syndromes are oligo-clonal stem cell disorders that are associated with cytopenias in the peripheral blood. Major causes for morbidity and mortality in myelodysplastic syndromes (MDS) patients are infections mostly due to bacteria or fungi. Beside leucopenia per se in affected patients, function of white blood cells particularly that of neutrophils seems to be impaired. Here we summarize the available data on infections in MDS patients in general and particularly those treated with 5-azacitidine...
March 21, 2017: European Journal of Haematology
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