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myelodysplastic syndrome review

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https://www.readbyqxmd.com/read/29684235/implications-of-mutation-profiling-in-myeloid-malignancies-part-1-myelodysplastic-syndromes-and-acute-myeloid-leukemia
#1
REVIEW
Douglas Tremblay, Kelsey Sokol, Sheena Bhalla, Raajit Rampal, John O Mascarenhas
The advent of high-throughput gene sequencing has revolutionized our understanding of the genetic mutations that drive myeloid malignancies. While these mutations are of interest pathobiologically, they are increasingly being recognized as clinically meaningful in providing diagnostic, prognostic, and therapeutic information to guide patient care. In this first part of our two-part review, we introduce mutation profiling as a relevant clinical tool for hematologists treating patients with myeloid malignancies...
April 15, 2018: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/29682980/aging-and-senescence-associated-changes-of-mesenchymal-stromal-cells-in-myelodysplastic-syndromes
#2
Domenico Mattiucci, Giulia Maurizi, Pietro Leoni, Antonella Poloni
Hematopoietic stem and progenitor cells reside within the bone marrow (BM) microenvironment. By a well-balanced interplay between self-renewal and differentiation, they ensure a lifelong supply of mature blood cells. Physiologically, multiple different cell types contribute to the regulation of stem and progenitor cells in the BM microenvironment by cell-extrinsic and cell-intrinsic mechanisms. During the last decades, mesenchymal stromal cells (MSCs) have been identified as one of the main cellular components of the BM microenvironment holding an indispensable role for normal hematopoiesis...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29668607/successful-treatment-of-high-risk-myelodysplastic-syndrome-with-decitabine-based-chemotherapy-followed-by-haploidentical-lymphocyte-infusion-a-case-report-and-literature-review
#3
Yuanyuan Ma, Jianliang Shen, Li-Xin Wang
RATIONALE: The current therapy for elderly patients with high-risk myelodysplastic syndromes (MDSs) remains unsatisfactory. Decitabine, which has been approved to treat MDS, cannot eliminate malignant clones of MDS. PATIENT CONCERNS: A 68-year-old woman presented with multiple divergent bleeding points in the subcutaneous tissue of the limb. Two years earlier, she had been diagnosed with invasive ductal carcinoma of the left breast and had undergone left modified radical mastectomy and local radiation therapy...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29624895/clonal-cytogenetic-abnormalities-of-undetermined-significance
#4
REVIEW
G Tang, L J Medeiros, S A Wang
Myelodysplastic syndromes are a group of hematopoietic stem cell diseases characterized by cytopenia(s), morphological dysplasia, and clonal hematopoiesis. In some patients, the cause of cytopenia(s) is uncertain, even after thorough clinical and laboratory evaluation. Evidence of clonal hematopoiesis has been used to support a diagnosis of myelodysplastic syndrome in this setting. In patients with cytopenia(s), the presence of clonal cytogenetic abnormalities, except for +8, del(20q) and -Y, can serve as presumptive evidence of myelodysplastic syndrome...
April 6, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29620682/gata2-deficiency-due-to-de-novo-complete-monoallelic-deletion-in-an-adolescent-with-myelodysplasia
#5
Donald C Vinh, Laura Palma, John Storring, William D Foulkes
GATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29616908/glioblastoma-multiforme-in-a-patient-with-multiple-myeloma-a-case-report-and-literature-review
#6
Christine A Moore, Moayed Ibrahim, Aaysha Kapila, Kailash Bajaj
INTRODUCTION: Lenalidomide is an immunomodulatory drug approved by the US Food and Drug Administration in 2006 for the treatment of multiple myeloma. In 2012, the Food and Drug Administration issued a statement warning physicians of the increased risk with lenalidomide treatment of the following secondary primary malignancies: Acute myelogenous leukemia, myelodysplastic syndromes, and Hodgkin lymphoma. The statement did not mention glioblastoma multiforme, a Grade 4 astrocytoma, or other high-grade astrocytomas that have been reported on rare occasions in the setting of multiple myeloma...
March 30, 2018: Permanente Journal
https://www.readbyqxmd.com/read/29616863/maintenance-azacitidine-after-myeloablative-allogeneic-hematopoietic-cell-transplantation-for-myeloid-malignancies
#7
Kathryn T Maples, Roy T Sabo, John M McCarty, Amir A Toor, Kelly G Hawks
Allogeneic hematopoietic cell transplantation (HCT) is a curative option for patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), but carries a high risk of relapse. This retrospective review evaluates the effectiveness of maintenance azacitidine in high-risk AML and MDS patients to reduce the probability of relapse. Twenty-five patients who received maintenance azacitidine were matched to historical controls in a two-to-one ratio based on diagnosis, donor type, conditioning regimen intensity, and age...
April 4, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29572239/identification-of-novel-mecom-gene-fusion-and-personalized-therapeutic-targets-through-integrative-clinical-sequencing-in-secondary-acute-myeloid-leukemia-in-a-patient-with-severe-congenital-neutropenia-a-case-report-and-literature-review
#8
James A Connelly, Rajen J Mody, Yi-Mi Wu, Dan R Robinson, Robert J Lonigro, Pankaj Vats, Erica Rabban, Bailey Anderson, Kelly Walkovich
Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by defective myelopoiesis and a high incidence of malignant transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). SCN patients who develop MDS/AML have excessive toxicities to traditional chemotherapy and safer therapies are needed to improve overall survival in this population. In this report, we outline the use of a prospective integrative clinical sequencing trial (PEDS-MIONCOSEQ) in a patient with SCN and AML to help identify oncogenic targets for less toxic agents...
March 23, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29551034/-secondary-myelodysplastic-syndrome-in-a-patient-with-de-novo-t-8-21-acute-myeloid-leukemia-a-case-report-and-literatures-review
#9
D Lin, G J Zhang, Y C Mi, J X Wang
No abstract text is available yet for this article.
January 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29547016/the-current-and-future-role-of-stem-cells-in-myelodysplastic-syndrome-therapies
#10
Guido Kobbe, Thomas Schroeder, Rainer Haas, Ulrich Germing
Allogeneic blood stem cell transplantation (aBSCT) still is the only curative therapy for patients with myelodysplastic syndromes. While it carries the hope for cure for some patients, it may result in severe toxicity and death from complications or recurrent disease in others. Recent developments have improved patient and donor selection as well as technical aspects of the transplant procedure and post-transplant care, including early detection and treatment of relapse. Areas covered: This review will discuss current stratification tools to identify suitable patients, donors and transplant techniques...
March 16, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29540277/stent-less-percutaneous-coronary-intervention-using-rotational-atherectomy-and-drug-coated-balloon-a-case-series-and-a-mini-review
#11
REVIEW
Jun Shiraishi, Nariko Koshi, Yuki Matsubara, Tetsuro Nishimura, Akira Shikuma, Keisuke Shoji, Daisuke Ito, Masayoshi Kimura, Eigo Kishita, Yusuke Nakagawa, Masayuki Hyogo, Takahisa Sawada
BACKGROUND: Experiences of rotational atherectomy (RA) followed by drug-coated balloon (DCB) dilation alone (RA/DCB) for de novo coronary artery lesion have been limited. CASE SERIES: Case 1 (65 year-old male) with silent myocardial ischemia and hemodialysis had old anterior myocardial infarction and intact LM/LCx, and underwent RA/DCB against a diffuse calcified lesion in the proximal LAD and a tandem lesion in the proximal RCA. Case 2 (88 year-old female) with post-infarction unstable angina had severe thrombocytopenia and anemia due to myelodysplastic syndrome (platelet 6000/μL, hemoglobin 8...
February 12, 2018: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/29535429/samd9-and-samd9l-in-inherited-predisposition-to-ataxia-pancytopenia-and-myeloid-malignancies
#12
REVIEW
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29532520/clinicopathological-characteristics-of-de-novo-and-secondary-myeloid-sarcoma-a-monocentric-retrospective-study
#13
Helena Claerhout, Sophie Van Aelst, Celine Melis, Thomas Tousseyn, Olivier Gheysens, Peter Vandenberghe, Daan Dierickx, Nancy Boeckx
OBJECTIVE: Diagnosing myeloid sarcoma remains challenging and we aimed to provide clinicopathological features to facilitate diagnosis. METHOD: Clinicopathological data from 41 patients with de novo and 31 with secondary myeloid sarcoma were reviewed. RESULTS: Most de novo cases presented with isolated myeloid sarcoma (n=19) or myeloid sarcoma with concurrent acute myeloid leukemia (n=15). Most secondary cases presented after acute myeloid leukemia (n=11), myeloproliferative neoplasm (n=9) or myelodysplastic syndrome (n=8)...
March 12, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29523665/patient-reported-distress-in-myelodysplastic-syndromes-and-its-association-with-clinical-outcomes-a-retrospective-cohort-study
#14
Jesse D Troy, Carlos M de Castro, Mary Ruth Pupa, Greg P Samsa, Amy P Abernethy, Thomas W LeBlanc
Background: NCCN defines distress as a multifactorial, unpleasant emotional experience of a psychological nature that may interfere with patients' ability to cope with cancer symptoms and treatment. Patients with myelodysplastic syndromes (MDS) are at risk for distress due to the largely incurable nature of this hematopoietic malignancy and its symptom burden, yet associations with clinical outcomes are unknown. Methods: We retrospectively reviewed patient-reported distress data from adult ambulatory patients with MDS visiting a single, tertiary care medical center from July 2013 to September 2015...
March 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29515972/genetic-alterations-in-essential-thrombocythemia-progression-to-acute-myeloid-leukemia-a-case-series-and-review-of-the-literature
#15
Jackline P Ayres-Silva, Martin H Bonamino, Maria E Gouveia, Barbara C R Monte-Mor, Diego F Coutinho, Adelmo H Daumas, Cristiana Solza, Esteban Braggio, Ilana Renault Zalcberg
The genetic events associated with transformation of myeloproliferative neoplasms (MPNs) to secondary acute myeloid leukemia (sAML), particularly in the subgroup of essential thrombocythemia (ET) patients, remain incompletely understood. Deep studies using high-throughput methods might lead to a better understanding of genetic landscape of ET patients who transformed to sAML. We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29513039/retreatment-with-peptide-receptor-radionuclide-therapy-in-patients-with-progressing-neuroendocrine-tumours-efficacy-and-prognostic-factors-for-response
#16
Emily Vaughan, Joseph Machta, Martin Walker, Christos Toumpanakis, Martyn Caplin, Shaunak Navalkissoor
OBJECTIVE: To evaluate the efficacy and toxicity of a repeat peptide receptor radionuclide therapy (PRRT) course in neuroendocrine tumour patients who have progressed following previous PRRT and to identify factors contributing to retreatment outcomes. METHODS: This was a retrospective analysis of 47 consecutive patients who had been treated with PRRT (PRRT1) and following disease progression were retreated with a second course of PRRT (PRRT2). We reviewed patient, tumour and treatment characteristics, time to progression after PRRT1 and PRRT2, overall survival and toxicity...
March 20, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29487386/hypomethylating-agents-in-combination-with-immune-checkpoint-inhibitors-in-acute-myeloid-leukemia-and-myelodysplastic-syndromes
#17
REVIEW
Naval Daver, Prajwal Boddu, Guillermo Garcia-Manero, Shalini Singh Yadav, Padmanee Sharma, James Allison, Hagop Kantarjian
Immune checkpoint inhibitors, as single-agent therapy, have shown modest clinical efficacy in the treatment of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). As has been successfully shown in other less immunogenic hematologic malignancies, rationally designed combination approaches may be more effective than single-agent checkpoint inhibitors, and may be the approach to pursue in AML/MDS. Hypomethylating agents (HMAs) such as azacitidine, while enhancing anti-tumor immune response, concurrently dampen immune response by upregulating inhibitory immune checkpoint molecule expression...
February 22, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29484447/enhancer-dna-methylation-in-acute-myeloid-leukemia-and-myelodysplastic-syndromes
#18
REVIEW
Leonidas Benetatos, George Vartholomatos
DNA methylation (CpG methylation) exerts an important role in normal differentiation and proliferation of hematopoietic stem cells and their differentiated progeny, while it has also the ability to regulate myeloid versus lymphoid fate. Mutations of the epigenetic machinery are observed in hematological malignancies including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) resulting in hyper- or hypo-methylation affecting several different pathways. Enhancers are cis-regulatory elements which promote transcription activation and are characterized by histone marks including H3K27ac and H3K4me1/2...
February 26, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29478947/azacitidine-use-for-myeloid-neoplasms
#19
REVIEW
Riad El Fakih, Rami Komrokji, Marwan Shaheen, Fahad Almohareb, Walid Rasheed, Mona Hassanein
Azacitidine and decitabine are hypomethylating agents frequently used interchangeably to treat myeloid neoplasms in different settings. Azacitidine is metabolized intracellularly into decitabine. Hypomethylating agents work by inhibiting DNA methyltransferases, causing demethylation of aberrantly methylated promoter regions of genes involved in the pathogenesis of myeloid neoplasms. Azacitidine was the first agent approved by the US Food and Drug Administration for treatment of myelodysplastic syndrome in 2004, after which, the use of azacitidine in other myeloid neoplasms increased significantly...
February 8, 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29475821/systematic-literature-review-of-treatment-options-and-clinical-outcomes-for-patients-with-higher-risk-myelodysplastic-syndromes-and-chronic-myelomonocytic-leukemia
#20
REVIEW
Jill A Bell, Aaron Galaznik, Rachel Huelin, Michael Stokes, Yelan Guo, Robert J Fram, Douglas V Faller
High-dose chemotherapy with allogeneic hematopoietic stem cell transplantation (allo-HSCT) can produce long-term remission in patients with higher-risk myelodysplastic syndromes (HR-MDS) and chronic myelomonocytic leukemia (CMML). However, this treatment regimen is not appropriate for elderly and/or comorbid patients; in these cases, azacitidine is a standard treatment. This systematic review was conducted to evaluate real-world evidence of treatment options for patients with HR-MDS/CMML. Medline and Embase (January 2006 to May 2016) were searched, in addition to conference proceedings and treatment guideline reviews...
February 8, 2018: Clinical Lymphoma, Myeloma & Leukemia
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