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myelodysplastic syndrome review

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https://www.readbyqxmd.com/read/27913465/aplastic-anemia-and-clonal-evolution-germ-line-and-somatic-genetics
#1
Akiko Shimamura
Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27902471/autophagy-autophagy-associated-adaptive-immune-responses-and-its-role-in-hematologic-malignancies
#2
REVIEW
Liangshun You, Shenhe Jin, Li Zhu, Wenbin Qian
Autophagy is a tightly regulated catabolic process that leads to the degradation of cytoplasmatic components such as aggregated/misfolded proteins and organelles through the lysosomal machinery. Recent studies suggest that autophagy plays such a role in the context of the anti-tumor immune response, make it an attractive target for cancer immunotherapy. Defective autophagy in hematopoietic stem cells may contribute to the development of hematologic malignancies, including leukemia, myelodysplastic syndrome, and lymphoproliferative disorder...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27899193/genetic-predisposition-to-leukemia-and-other-hematologic-malignancies
#3
REVIEW
Simone Feurstein, Michael W Drazer, Lucy A Godley
In this review, we provide an overview of familial myelodysplastic syndromes (MDS)/acute leukemia (AL) and bone marrow failure syndromes, as well as insights into familial myeloproliferative neoplasms (MPNs), familial multiple myeloma (MM), familial Waldenström macroglobulinemia (WM), familial lymphoma, and cancer predisposition syndromes with increased risk of MDS/AL. This field will continue to accelerate as next-generation sequencing (NGS) techniques identify novel predisposition alleles in families with a genetic predisposition to hematologic malignancies...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27890995/endotracheobronchial-lymphoma-two-unusual-case-reports-and-review-of-article
#4
Trilok Chand, Avdhesh Bansal, Harsh Dua, Kapil Sharma
The tracheobronchial origin of non-Hodgkin's lymphoma (NHL) is a very rare presentation, and there are only a few case reports of primary tracheal or endobronchial NHL. We have two cases of primary tracheobronchial NHL; one case was incidentally diagnosed as anaplastic large cell lymphoma of endobronchial origin when a comprehensive workup and surgery were carried out for an endobronchial aspergilloma which was actually sitting on top of lymphoma. The second patient was a case of myelodysplastic syndrome who presented with acute respiratory distress; on thorough workup, he was found to have endotracheal B-cell lymphoma...
November 2016: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/27875374/implications-of-molecular-genetic-diversity-in-myelodysplastic-syndromes
#5
Rafael Bejar
PURPOSE OF REVIEW: Myelodysplastic syndromes (MDS) have remarkably diverse somatic mutation patterns that can be challenging to interpret clinically. Yet, genetic information is increasingly available to physicians. This review will examine several implications of genetic diversity in MDS. RECENT FINDINGS: Somatic mutations can serve as clinically relevant biomarkers in MDS. Molecular subtypes may exist that share clinical features including risk of progression to acute myeloid leukemia, response to treatment, and overall survival...
November 21, 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27875373/revisiting-erythroleukemia
#6
Daniel A Arber
PURPOSE OF REVIEW: The 2016 WHO classification of hematopoietic and lymphoid neoplasms alters the diagnostic criteria for erythroleukemia, including eliminating the erythroid/myeloid type of acute erythroleukemia, which was a prior subcategory of acute myeloid leukemia, not otherwise specified. Only pure erythroid leukemia remains in the WHO classification. This review will summarize the literature that contributed to that classification change as well as recent literature on the significance of the change...
November 21, 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27862375/concomitant-mds-with-isolated-5q-deletion-and-mgus-case-report-and-review-of-molecular-aspects
#7
Florian Nolte, Maximilian Mossner, Johann-Christoph Jann, Daniel Nowak, Tobias Boch, Nadine Zoe Müller, Wolf-Karsten Hofmann, Georgia Metzgeroth
Myelodysplastic syndromes (MDS) are considered oligoclonal hematopoietic stem cell disorders resulting in peripheral cytopenias and an increased risk of developing acute myeloid leukemia (AML). Anemia is present in the majority of cases requiring regular blood transfusion in most patients. The WHO subtype of MDS with isolated deletion (5q) is the first cytogenetically determined entity introduced in the classification of the MDS. This article is protected by copyright. All rights reserved.
November 15, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27860411/secondary-primary-malignancies-during-the-lenalidomide-dexamethasone-regimen-in-relapsed-refractory-multiple-myeloma-patients
#8
Rouslan Kotchetkov, Esther Masih-Khan, Chia-Min Chu, Eshetu G Atenafu, Christine Chen, Vishal Kukreti, Suzanne Trudel, Rodger Tiedemann, Donna E Reece
Lenalidomide in combination with dexamethasone (Len-dex) represents a highly effective treatment in relapsed/refractory multiple myeloma (RRMM) patients. However, an increased risk of secondary primary malignancies (SPMs), including myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) has been described in patients receiving lenalidomide. In order to assess the incidence and features of this complication, we reviewed 195 patients with RRMM treated with Len-dex at our institution. The median follow-up time from diagnosis of MM was 73 months (10-234 months) and from initiation of Len-dex was 19 months (1-104 months)...
November 18, 2016: Cancer Medicine
https://www.readbyqxmd.com/read/27852923/unmasking-the-u2af-homology-motif-family-a-bona-fide-protein-protein-interaction-motif-in-disguise
#9
REVIEW
Sarah Loerch, Clara L Kielkopf
U2AF homology motifs (UHM) that recognize U2AF ligand motifs (ULM) are an emerging family of protein-protein interaction modules. UHM-ULM interactions recur in pre-mRNA splicing factors including U2AF1 and SF3b1, which are frequently mutated in myelodysplastic syndromes. The core topology of the UHM resembles an RNA recognition motif and is often mistakenly classified within this large family. Here, we unmask the charade and review recent discoveries of UHM-ULM modules for protein-protein interactions. Diverse polypeptide extensions and selective phosphorylation of UHM and ULM family members offer new molecular mechanisms for the assembly of specific partners in the early-stage spliceosome...
December 2016: RNA
https://www.readbyqxmd.com/read/27848185/pediatric-intestinal-beh%C3%A3-et-disease-complicated-by-myeloid-malignancies
#10
Kiichiro Kanamitsu, Akira Shimada, Ritsuo Nishiuchi, Tomonari Shigemura, Yozo Nakazawa, Kenichi Koike, Yuichi Kodama, Yuichi Shinkoda, Yoshifumi Kawano, Kozo Yasui, Koji Sasaki, Ryosuke Kajiwara, Hirokazu Tsukahara, Atsushi Manabe
Behçet disease (BD) is rarely seen in children. Its clinical manifestations are believed to differ between pediatric and adult patients. The characteristics of BD complicated by myelodysplastic syndrome (MDS) are well established for adult patients; however, because only a few cases of pediatric-onset BD complicated by MDS have been reported, its clinical characteristics remain unknown. We here retrospectively review pediatric-onset BD complicated by myeloid malignancies in Japan, having identified five such patients...
November 15, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27834397/the-genetics-of-myelodysplastic-syndrome-from-clonal-haematopoiesis-to-secondary-leukaemia
#11
Adam S Sperling, Christopher J Gibson, Benjamin L Ebert
Myelodysplastic syndrome (MDS) is a clonal disease that arises from the expansion of mutated haematopoietic stem cells. In a spectrum of myeloid disorders ranging from clonal haematopoiesis of indeterminate potential (CHIP) to secondary acute myeloid leukaemia (sAML), MDS is distinguished by the presence of peripheral blood cytopenias, dysplastic haematopoietic differentiation and the absence of features that define acute leukaemia. More than 50 recurrently mutated genes are involved in the pathogenesis of MDS, including genes that encode proteins involved in pre-mRNA splicing, epigenetic regulation and transcription...
November 11, 2016: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/27829292/efficacy-of-azacitidine-in-the-treatment-of-adult-patients-aged-65-years-or-older-with-aml
#12
Elena Tenti, Cristina Papayannidis, Giovanni Marconi, Sarah Parisi, Giorgia Simonetti, Stefania Paolini, Chiara Sartor, Emanuela Ottaviani, Nicoletta Testoni, Giovanni Martinelli
Therapy for acute myeloid leukemia (AML) in elderly populations (>65 years) is still a challenge for scientists and hematologists worldwide, and represents an urgent medical need. Notably, the identification and the recognition of molecular and epigenetic mechanisms involved in the pathogenesis of such a heterogeneous disease, are providing new tools for a more successful and 'targeted' approach. Azacitidine is a hypomethylating agent (HMA) with relevant activity in patients affected by myelodysplastic syndrome (MDS) and AML with low blast cells percentage (>30%), in terms of reduction of transfusion dependence, and improvement of quality of life...
December 2016: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/27824902/efficacy-and-safety-of-lenalidomide-for-treatment-of-low-intermediate-1-risk-myelodysplastic-syndromes-with-or-without-5q-deletion-a-systematic-review-and-meta-analysis
#13
Xin-Yue Lian, Zhi-Hui Zhang, Zhao-Qun Deng, Pin-Fang He, Dong-Ming Yao, Zi-Jun Xu, Xiang-Mei Wen, Lei Yang, Jiang Lin, Jun Qian
BACKGROUND: Lenalidomide could effectively induce red blood cell (RBC) transfusion independence (TI) in patients with lower-risk (Low/Intermediate-1) myelodysplastic syndrome (MDS) with or without 5q deletion. However whether lenalidomide ultimately improves the overall survival (OS) of lower-risk MDS patients and reduces the progression to AML remains controversial. METHOD: A meta-analysis was conducted to examine the efficacy and safety of lenalidomide in the treatment of lower-risk MDS...
2016: PloS One
https://www.readbyqxmd.com/read/27823655/the-immune-landscape-of-myelodysplastic-syndromes
#14
REVIEW
Claudio Fozza, Valeria Crobu, Maria Antonia Isoni, Fausto Dore
Even though the pathogenesis of myelodysplastic syndromes (MDS) is dominated by specific molecular defects involving hematopoietic precursors, also immune mechanisms seem to play a fundamental functional role. In this review we will first describe the clinical and laboratory autoimmune manifestations often detectable in MDS patients. We will then focus on studies addressing the possible influence of different immune cell subpopulations on the disease onset and evolution. We will finally consider therapeutic approaches based on immunomodulation, ranging from immunosuppressants to vaccination and transplantation strategies...
November 2016: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/27819178/myelodysplastic-syndromes-and-acute-leukemia-with-genetic-predispositions-a-new-challenge-for-hematologists
#15
Nicolas Duployez, Sophie Lejeune, Aline Renneville, Claude Preudhomme
The determination of an underlying genetic predisposition is not automatically part of the diagnosis of hematological malignancies (HM) in routine practice. However, it is assumed that genetic predispositions to HM are currently underestimated due to great variations in disease phenotype, variable latency and incomplete penetrance. Most of patients do not display any biological or clinical signs besides the overt hematological disease and many of them have a lack of personal or family history of malignancies...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27815858/a-retrospective-study-of-azacitidine-treatment-in-patients-with-intermediate-2-or-high-risk-myelodysplastic-syndromes-in-a-real-world-clinical-setting-in-greece
#16
Vasiliki Pappa, Achilles Anagnostopoulos, Eleni Bouronikou, Evangelos Briasoulis, Ioannis Kotsianidis, Maria Pagoni, Panagiotis Zikos, Konstantinos Tsionos, Nora Viniou, John Meletis, Helen Papadaki, Anna Kioumi, Athanasios Galanopoulos, Elisavet-Christine Vervessou, Elias Poulakidas, Panagiotis Karmas, Kiki Karvounis, Argiris Symeonidis
For patients with intermediate-2 or high risk [according to the International Prognostic Scoring System (IPSS)] myelodysplastic syndromes (MDS), azacitidine treatment offers hematologic improvement (HI) but also has the potential to modify the natural disease course. 'RETRO-AZA-MDS-001', a retrospective chart review study was conducted from February to November 2012 across 17 hematology hospital sites of Greece, aiming to evaluate the clinical efficacy and safety profile of azacitidine in IPSS intermediate-2/high risk adult MDS patients in routine care...
November 4, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27780981/longitudinal-observation-of-serum-anti-m%C3%A3-llerian-hormone-in-three-girls-after-cancer-treatment
#17
Yoko Miyoshi, Kie Yasuda, Makiko Tachibana, Hisao Yoshida, Emiko Miyashita, Takako Miyamura, Yoshiko Hashii, Kae Hashimoto, Tadashi Kimura, Keiichi Ozono
Gonadal dysfunction and infertility are major endocrinological late effects among childhood cancer survivors. Chemotherapy and radiation have gonadotoxic effects and diminish the ovarian reserve. The serum concentration of anti-Müllerian hormone (AMH) is a useful marker of ovarian reserve in survivors. We conducted a longitudinal study to investigate the variations of AMH in evaluating the acute and chronic effects of cancer therapy on the ovary. Three young female patients with different hematological diseases were registered, and their medical records were reviewed...
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27776290/good-riddance-to-the-term-refractory-anemia-in-myelodysplastic-syndromes
#18
David P Steensma
The term "refractory anemia" was used in 1937 by Cornelius Parker Rhoads to describe patients whose anemia did not improve after treatment with liver extract or iron salts, and this term has been used to denote patients with certain subtypes of myelodysplastic syndromes (MDS) since the 1976 and 1982 French-American-British (FAB) classifications of acute leukemias and MDS. In 2016, the World Health Organization (WHO) proposed elimination of "refractory anemia" in a more general proposal for reclassification of myeloid neoplasia...
October 17, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27771290/integrating-genomics-in-myelodysplastic-syndrome-to-predict-outcomes-after-allogeneic-hematopoietic-cell-transplantation
#19
Samah Nassereddine, Taiga Nishihori, Eric Padron, Rami Mahfouz, Ali Bazarbachi, Rami S Komrokji, Mohamed A Kharfan-Dabaja
Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematopoietic neoplastic disorders most commonly occurring in the elderly population; MDS has a tendency to progress to acute leukemia. Although epigenetic therapies have improved the outcomes of MDS patients, allogeneic hematopoietic cell transplantation remains the only curative option. Molecular characterization of MDS using next-generation sequencing has expanded not only the knowledge on MDS but also the depth of understanding of evolution and contribution of recurrent somatic mutations in precursor conditions...
September 16, 2016: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/27751357/jumping-translocations-in-myelodysplastic-syndromes
#20
Cecilia C S Yeung, H Joachim Deeg, Colin Pritchard, David Wu, Min Fang
Jumping translocations (JT) have been identified in numerous malignancies, including leukemia, but infrequently in patients with myelodysplastic syndromes (MDS). The responsible genetic region has been mapped to the JTB gene at 1q21, but breakpoints involving other chromosomal loci, such as 3q and 11q, have been described as well. We have characterized the pathological and mutational landscape, and the clinical course of 6 new MDS patients with jumping mutations using chromosome genomic array testing (CGAT) and target gene panel next generation sequencing...
September 2016: Cancer Genetics
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