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myelodysplatic syndrome

Irene Dambruoso, Rosangela Invernizzi, Marina Boni, Rita Zappatore, Ilaria Giardini, Maria Paola Cavigliano, Barbara Rocca, Celeste Calvello, Raffaella Bastia, Marilena Caresana, Francesca Pasi, Rosanna Nano, Paolo Bernasconi
In myelodysplatic syndromes and acute myeloid leukemia (MDS/AML) deletion of the 11q14 region is a rare chromosomal defect (incidence: 0.6-1.0%), included within the intermediate risk criteria by the International Prognostic Scoring System. No fluorescence in situ hybridization (FISH) study has yet been performed to identify a common breakpoint region (CBR). In our study through FISH with bacterial artificial chromosomes and commercial probes, we analyzed seven patients with MDS/AML harboring 11q14 deletion on conventional cytogenetic analysis...
2017: Anticancer Research
Wenqing Hu, Bing Shi, Lihui Liu, Shengke He, Liping Ye, DengMei Tian, Yongqing Zhang
Linezolid (LZD), severed as the first oxazolidinone antibiotic, was active against multidrug-resistant gram-positive strains. LZD can induce thrombocytopenia, anemia and leukocytopenia. Currently, reports on pure red cell aplasia (PRCA) cases induced by LZD are relatively rare (4-7). In this paper, we reported a patient with PRCA twice induced by LZD. A 37-year-old man was diagnosed with myelodysplatic syndrome (MDS) and underwent allo-HSCT from an unrelated donor with ABO blood type and leukocyte antigen (HLA)-matching...
2016: Iranian Journal of Pharmaceutical Research: IJPR
Marco Cerrano, Elena Crisà, Valentina Giai, Mario Boccadoro, Dario Ferrero
Anemia in the elderly is a common but challenging clinical scenario. Here we describe the case of an older woman who presented with anemia and elevated inflammation markers. After a complete diagnostic work-up, a definite etiology of the anemia could not be found so eventually a bone marrow biopsy was performed and she was diagnosed with myelodysplastic syndrome. She responded well to erythropoietin treatment but her inflammation markers remained elevated thus a positron emission tomography was performed. It turned out that the patient suffered from giant cell artheritis and her anemia completely resolved after steroid treatment...
2016: Mediterranean Journal of Hematology and Infectious Diseases
Antonio Gidaro, Giorgio Lambertenghi Deliliers, Paolo Gallipoli, Massimo Arquati, Maddalena Alessandra Wu, Roberto Castelli
Myelodisplastic syndromes (MDS) are heterogeneous myeloid disorders characterized by peripheral cytopenias and increased risk of transformation into acute myelogenous leukemia (AML). MDS are generally suspected in the presence of cytopenia on routine analysis and the evaluation of bone marrow cells morphology and cellularity leads to correct diagnosis of MDS. The incidence of MDS is approximately five cases per 100,000 people per year in the general population, but it increases up to 50 cases per 100,000 people per year after 60 years of age...
September 1, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
Jenny N Poynter, Michaela Richardson, Cindy K Blair, Michelle A Roesler, Betsy A Hirsch, Phuong Nguyen, Adina Cioc, Erica Warlick, James R Cerhan, Julie A Ross
BACKGROUND: Overweight and obesity are known risk factors for a number of cancers, with recent evidence suggesting that risk of hematologic cancer is also increased in obese individuals. We evaluated associations between body mass index (BMI) at differing time points during the life course in population-based case control studies of acute myeloid leukemia (AML) and myelodysplatic syndromes (MDS). METHODS: Cases were identified by the Minnesota Cancer Surveillance System...
February 2016: Cancer Epidemiology
Geoffrey Kim, Gwynn Ison, Amy E McKee, Hui Zhang, Shenghui Tang, Thomas Gwise, Rajeshwari Sridhara, Eunice Lee, Abraham Tzou, Reena Philip, Haw-Jyh Chiu, Tiffany K Ricks, Todd Palmby, Anne Marie Russell, Gaetan Ladouceur, Elimika Pfuma, Hongshan Li, Liang Zhao, Qi Liu, Rajesh Venugopal, Amna Ibrahim, Richard Pazdur
On December 19, 2014, the FDA approved olaparib capsules (Lynparza; AstraZeneca) for the treatment of patients with deleterious or suspected deleterious germline BRCA-mutated (gBRCAm) advanced ovarian cancer who have been treated with three or more prior lines of chemotherapy. The BRACAnalysis CDx (Myriad Genetic Laboratories, Inc.) was approved concurrently. An international multicenter, single-arm trial enrolled 137 patients with measurable gBRCAm-associated ovarian cancer treated with three or more prior lines of chemotherapy...
October 1, 2015: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Marcos R H Estécio, Sirisha Maddipoti, Carlos Bueso-Ramos, Courtney D DiNardo, Hui Yang, Yue Wei, Kimie Kondo, Zhihong Fang, William Stevenson, Kun-Sang Chang, Sherry A Pierce, Zachary Bohannan, Gautam Borthakur, Hagop Kantarjian, Guillermo Garcia-Manero
Correlative and functional studies support the involvement of the RUNX gene family in haematological malignancies. To elucidate the role of epigenetics in RUNX inactivation, we evaluated promoter DNA methylation of RUNX1, 2, and 3 in 23 leukaemia cell lines and samples from acute myeloid leukaemia (AML), acute lymphocytic leukaemia (ALL) and myelodysplatic syndromes (MDS) patients. RUNX1 and RUNX2 gene promoters were mostly unmethylated in cell lines and clinical samples. Hypermethylation of RUNX3 was frequent among cell lines (74%) and highly variable among patient samples, with clear association to cytogenetic status...
May 2015: British Journal of Haematology
Yunfeng Zhao, Wei Xiong, Xueling Wu
Pulmonary alveolar proteinosis (PAP) is a rare lung disorder. We herein report the first case of PAP that happened 2 years before myelodysplatic syndrome (MDS). A 34-year-old Chinese presented with a developed recurrent cough and shortness of breath. Computed tomography scan disclosed ground-glass opacities with interlobular septal thickening. Histological examination showed eosinophilic dense homogenous material filling in the alveolar. This precipitate had a fine granular appearance. The eosinophilic material was periodic acid-Schiff reaction-positive...
December 2013: Respirology Case Reports
Manuel Luis Orta, Andreas Höglund, José Manuel Calderón-Montaño, Inmaculada Domínguez, Estefanía Burgos-Morón, Torkild Visnes, Nuria Pastor, Cecilia Ström, Miguel López-lázaro, Thomas Helleday
Decitabine (5-aza-2'-deoxycytidine, 5-azadC) is used in the treatment of Myelodysplatic syndrome (MDS) and Acute Myeloid Leukemia (AML). Its mechanism of action is thought to involve reactivation of genes implicated in differentiation and transformation, as well as induction of DNA damage by trapping DNA methyltranferases (DNMT) to DNA. We demonstrate for the first time that base excision repair (BER) recognizes 5-azadC-induced lesions in DNA and mediates repair. We find that BER (XRCC1) deficient cells are sensitive to 5-azadC and display an increased amount of DNA single- and double-strand breaks...
August 2014: Nucleic Acids Research
Hady Ghanem, Guillermo Garcia-Manero, Stefan Faderl, Farhad Ravandi, Jorge Cortes, Lakshmikanth Katragadda, Susan O'Brien, Naval Daver, Sherry Pierce, Tapan Kadia, Hagop Kantarjian, Elias Jabbour
BACKGROUND: The outcome of patients with myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) post clofarabine is unknown. METHODS: We reviewed 109 patients with MDS or CMML with a median age of 67 years, treated with a clofarabine-based chemotherapy as frontline (n = 38) or salvage (n = 71) therapy. A total of 58 (53%) patients received salvage therapy after clofarabine failure: 13 allogeneic stem cell transplant (ASCT), 18 high-dose cytarabine-containing regimen, 10 hypomethylating agents and 17 investigational treatments...
April 2014: Therapeutic Advances in Hematology
Rui Cui, Robert Peter Gale, Guoqing Zhu, Zefeng Xu, Tiejun Qin, Yue Zhang, Gang Huang, Bing Li, Liwei Fang, Hongli Zhang, Lijuan Pan, Naibo Hu, Shiqiang Qu, Zhijian Xiao
Dysregulation of hepcidin, a key iron regulating hormone, is important in the pathogenesis of iron overload in patients with myelodysplatic syndrome (MDS). However, most studies of hepcidin levels are complicated by concomitant RBC transfusions. To evaluate the relationship between iron metabolism and erythropoiesis, we measured serum levels of hepcidin, growth-differentiation factor-15 (GDF15) and other markers of erythropoiesis in 107 subjects with MDS not receiving RBC transfusions. Patients with MDS had significantly higher levels of hepcidin than normals...
May 2014: Leukemia Research
Benoit de Renzis, Veronique Mansat-De Mas, Eric Wattel, Odile Beyne-Rauzy, Laurent Knoops, Aurélie Cabrespine, Zahia Azgui, Lionel Ades, Jean-Jacques Kiladjian, Pierre Fenaux
While in RARS-T, JAK2V617F mutation is common and associated with good prognosis, the clinical and prognostic impact of this mutation in other MDS is unknown. We collected data from 132 non-RARS-T MDS with known JAK2V617F mutation status. JAK2V617F mutation was significantly correlated with lower progression to AML (p<.0011) and better overall survival (OS, p=.011). OS difference persisted after matching on age, sex, IPSS and % marrow blast (p=.031). Thus, in MDS other than RARS-T, JAK2V617F mutation may be associated with favorable outcome...
2013: Leukemia Research Reports
Fang Ye, Yu-Mei He, Guo-Xia Li, Li-Na Wang, Ning Jia, Rui-Xia Ma, Yan-Ping Ma
This study was purposed to explore the relationship between the mRNA expression of telomere protection protein TIN2 and POT1 and the pathogenesis of myelodysplatic syndrome (MDS). The expression of TIN2 and POT1 genes at the mRNA levels were detected by real-time fluorescence quantitative PCR in 51 patients with MDS and 10 normal controls. The results showed that the mRNA expressions of TIN2 in RA/RARS/RCMD/MDS-U, RAEB-1 and RAEB-2 groups according to the World Health Organization criteria were significantly higher than that in the controls (P < 0...
February 2013: Zhongguo Shi Yan Xue Ye Xue za Zhi
Yu Seiki, Yumi Sasaki, Kohei Hosokawa, Chizuru Saito, Naomi Sugimori, Hirohito Yamazaki, Akiyoshi Takami, Shinji Nakao
Although myelodysplastic syndromes are heterogeneous disorders comprising a benign subset of bone marrow failure similar to aplastic anemia, no laboratory test has been established to distinguish it from bone marrow failures that can evolve into acute myeloid leukemia. Plasma thrombopoietin levels were measured in 120 patients who had myelodysplastic syndrome with thrombocytopenia (< 100 × 10(9)/L) to determine any correlation to markers associated with immune pathophysiology and outcome. Thrombopoietin levels were consistently low for patients with refractory anemia with excess of blasts, while patients with other myelodysplatic syndrome subsets had more variable results...
June 2013: Haematologica
Giuseppe Terrazzano, Fiorella Alfinito, Anna Teresa Palatucci, Valentina Rubino, Roberta Della Pepa, Angela Giovazzino, Giuseppina Ruggiero
Relevance of immune-dysregulation for emergence, dominance and progression of dysplastic clones in myelodysplastic syndromes (MDS) was suggested, but valuable or predictive criteria on this involvement are lacking. We previously reported that reduced T-regulatory cells (Treg) and high CD54 expression on T cell identify a sub-group of patients in whom an immune-pathogenesis might be inferred. Here, we suggest the occurrence of immune-selection of dysplastic clones in a subgroup of MDS patients, with reduced HLA-I and HLA-E on PMN, and propose that an altered immune profile might represent a valuable criterion to classify Low/Int-1 patients on the basis of immune-pathogenesis of MDS...
February 2013: Leukemia Research
Dong Wook Jekarl, Sang Bong Han, Myungshin Kim, Jihyang Lim, Eun-Jee Oh, Yonggoo Kim, Hee-Je Kim, Woo-Sung Min, Kyungja Han
BACKGROUND: The JAK2 V617F mutation has been noted in the cases of polycythemia vera, essential thrombocythemia, and primary myelofibrosis patients. This mutation occurs less frequently in acute myeloid leukemia (AML) and other hematologic diseases, such as myelodysplastic syndrome (MDS); myelodysplatic syndrome/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U); and refractory anemia with ring sideroblasts with thrombocytosis (RARS-T). METHODS: Patients diagnosed with hematologic diseases other than MPN who visited Seoul St Mary's Hospital from January 2007 to February 2010 were selected...
March 2010: Korean Journal of Hematology
Joo Won Chung, Jae Hee Cheon, Kyong Joo Lee, Jin Seok Kim, Seon Jung Jang, Woo Ick Yang, Tae Il Kim, Won Ho Kim
Behcets disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcets disease. There were only several reports about Behcets disease associated myelodysplatic syndrome worldwide. Moreover, aplastic anemia in intestinal Behcets disease was rarely reported. Here, we present a case of aplastic anemia with trisomy 8 and trisomy 9 in intestinal Behcets disease and a review of the literatures...
April 2010: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
Tobias Lahmer, Matthias Treiber, Alexander von Werder, Frauke Foerger, Andreas Knopf, Uwe Heemann, Klaus Thuermel
Relapsing polychondritis (RPC) is a rare immune mediated disease which is associated with inflammation in cartilaginous tissue throughout the body. Especially the cartilaginous structures of ear, nose, joints and respiratory tract are affected. In around 30% of the cases an association with other diseases especially systemic vasculitis or myelodysplatic syndrome can be detected. The relative rarity of RPC has not permitted clinical trials to determine the efficacy and safety of therapy strategies. Often the medication in current use is largely empiric and based on case reports...
June 2010: Autoimmunity Reviews
Antonia Müller, Mareike Florek
5-Azacytidine is a pyrimidine nucleoside analog that has been discovered more than 40 years ago. Despite remarkable responses in the treatment of acute myeloid leukemias in the 1970s no earlier than 2004 has this agent been approved by the US FDA for the treatment of all subtypes of myelodysplatic syndromes (MDS). For the first time a drug was proven to alter the natural course of MDS, as demonstrated in three clinical trials conducted by the CALG B. Complete remission rates ranged between 10-17%, and more recently, a significant survival benefit for MDS patients treated with 5-Azacytidine could be established...
2010: Recent Results in Cancer Research
Joseph Bonkowski, Lee C Vermeulen, Jill M Kolesar
PURPOSE: the pharmacology, pharmacokinetics, pharmacodynamics, clinical utility, adverse effects, dosage, and cost of lenalidomide are reviewed. SUMMARY: lenalidomide is a thalidomide analogue approved for treatment of myelodysplastic syndromes (MDS) associated with a cytogenetic 5q deletion. In combination with dexamethasone, lenalidomide has been approved by the FDA in the United States for the treatment of relapsed or refractory multiple myeloma, and is sometimes used for induction therapy...
December 2010: Journal of Oncology Pharmacy Practice
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