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Ring sideroblasts

Maliha Khan, Tariq Muzzafar, Hagop Kantarjian, Ifra Badar, Nicholas Short, Xuemei Wang, Kamal Chamoun, Preetesh Jain, Courtney DiNardo, Naveen Pemmaraju, Prithviraj Bose, Gautam Borthakur, Jorge Cortes, Srdan Verstovsek, Guillermo Garcia-Manero, Zeev Estrov
The impact of bone marrow fibrosis grade on the prognosis of patients with chronic myelomonocytic leukemia (CMML) remains controversial. Therefore, we examined the records of 82 patients diagnosed with CMML at our institution and summarized baseline characteristics and molecular profiles by subgroups of absent or mild (grades 0/1) and moderate (grade 2) fibrosis. Cox proportional hazards models were constructed to assess the prognostic significance of fibrosis grade. Grade 2 fibrosis was identified in 63 patients (76...
March 20, 2018: Annals of Hematology
Yumin Huang, John Hale, Yaomei Wang, Wei Li, Shijie Zhang, Jieying Zhang, Huizhi Zhao, Xinhua Guo, Jing Liu, Hongxia Yan, Karina Yazdanbakhsh, Gang Huang, Christopher D Hillyer, Narla Mohandas, Lixiang Chen, Ling Sun, Xiuli An
BACKGROUND: SF3B1 is a core component of splicing machinery. Mutations in SF3B1 are frequently found in myelodysplastic syndromes (MDS), particularly in patients with refractory anemia with ringed sideroblasts (RARS), characterized by isolated anemia. SF3B1 mutations have been implicated in the pathophysiology of RARS; however, the physiological function of SF3B1 in erythropoiesis remains unknown. METHODS: shRNA-mediated approach was used to knockdown SF3B1 in human CD34+ cells...
February 12, 2018: Journal of Hematology & Oncology
Yuta Baba, Bungo Saito, Shotaro Shimada, Yohei Sasaki, So Murai, Maasa Abe, Shun Fujiwara, Nana Arai, Yukiko Kawaguchi, Nobuyuki Kabasawa, Hiroyuki Tsukamoto, Yui Uto, Hirotsugu Ariizumi, Kouji Yanagisawa, Norimichi Hattori, Hiroshi Harada, Tsuyoshi Nakamaki
Studies showed red cell distribution width (RDW) can improve the detection of morphological changes in red blood cells and the understanding of their contribution to dyserythropoiesis in myelodysplastic syndrome (MDS). The purpose of the study was to evaluate dyserythropoiesis in MDS by RDW analysis and to explore the utility of RDW in clinical practice. We retrospectively analyzed laboratory and clinical data of 101 patients (59 patients was refractory anemia (RA) according to the French-American-British (FAB) classification)...
February 7, 2018: Leukemia Research
Shunsuke Hatta, Tohru Fujiwara, Takako Yamamoto, Kei Saito, Mayumi Kamata, Yoshiko Tamai, Shin Kawamata, Hideo Harigae
No abstract text is available yet for this article.
February 1, 2018: Haematologica
B Li, J Y Wang, J Q Liu, Z X Shi, S L Peng, H J Huang, T J Qin, Z F Xu, Y Zhang, L W Fang, H L Zhang, N B Hu, L J Pan, S Q Qu, Z J Xiao
Objective: To study the characteristics of gene mutations in Chinese myelodysplastic syndromes (MDS) patients. Methods: A total of 511 Chinese patients with MDS performed 112-gene targeted sequencing were retrospectively analyzed. Results: Eighty-three distinct mutant genes were found in 511 patients with MDS. Amongst these, the most frequent mutations was associated with epigenetics (50%) , followed by spliceosome (37%) , signal transduction (34%) , transcription factors (24%) and cell cycle/apoptosis (17%) ...
December 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al-Owain, Raashda A Sulaiman
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts...
March 2018: American Journal of Medical Genetics. Part A
Elisa Tadiotto, Evelina Maines, Daniela Degani, Rita Balter, Andrea Bordugo, Simone Cesaro
Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features...
December 29, 2017: Pediatric Blood & Cancer
Muneer H ALBagshi, Somaya H Saloma, Hassan M Albagshi
Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe one case of congenital sideroblastic anemia, indicating an autosomal recessive inheritance, with its clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications...
2017: Sudanese Journal of Paediatrics
Eleftheria Lamprianidou, Chryssoula Kordella, Menelaos Papoutselis, Zoi Bezyrgiannidou, Evangelia Nakou, Spyros Papamichos, Emmanouil Spanoudakis, Andreas Giannopoulos, Katerina Zoi, Ioannis Kotsianidis
Myeloid neoplasms with isolated isochromosome 17q [MN i(17q)] has been described as a distinct entity with poor prognosis. However, literature reports show a considerable clinical and molecular heterogeneity. We describe a 58-year-old male patient who was diagnosed as refractory anemia with multilineage dysplasia and ringed sideroblasts with isolated i(17q). Though he initially responded well to erythropoietin, he gradually progressed to an aggressive form of MDS/MPN refractory to azacytidine and died 29 months after the first diagnosis...
2017: Mediterranean Journal of Hematology and Infectious Diseases
Jacob D Kjelland, Denis M Dwyre, Brian A Jonas
Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with an elliptocytosis that had only recently been noted on peripheral smears of his blood. After bone marrow biopsy he was diagnosed with MDS with ring sideroblasts and multilineage dysplasia and acquired elliptocytosis. Here we report a rare case of acquired elliptocytosis cooccurring with MDS with ring sideroblasts and multilineage dysplasia...
2017: Case Reports in Hematology
Kazumichi Furuyama, Kiriko Kaneko
Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene products and ring sideroblasts is largely unclear. In this review article, we will focus on the iron metabolism in erythroid cells as well as in patients with congenital sideroblastic anemia...
November 14, 2017: International Journal of Hematology
Mwe Mwe Chao, Kathrin Thomay, Gudrun Goehring, Marcin Wlodarski, Victor Pastor, Brigitte Schlegelberger, Detlev Schindler, Christian Peter Kratz, Charlotte Niemeyer
Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected...
November 2017: Klinische Pädiatrie
Louise de Swart, Chloé Reiniers, Timothy Bagguley, Corine van Marrewijk, David Bowen, Eva Hellström-Lindberg, Aurelia Tatic, Argiris Symeonidis, Gerwin Huls, Jaroslav Cermak, Arjan A van de Loosdrecht, Hege Garelius, Dominic Culligan, Mac Macheta, Michail Spanoudakis, Panagiotis Panagiotidis, Marta Krejci, Nicole Blijlevens, Saskia Langemeijer, Jacqueline Droste, Dorine W Swinkels, Alexandra Smith, Theo de Witte
Red blood cell transfusions remain one of the cornerstones in supportive care of lower-risk patients with myelodysplastic syndromes. We hypothesized that patients develop oxidant mediated tissue injury through the formation of toxic iron species, caused either by red blood cell transfusions or by ineffective erythropoiesis. We analyzed serum samples from 100 lower-risk patients with myelodysplastic syndromes at six-month intervals for transferrin saturation, hepcidin-25, growth differentiation factor 15, soluble transferrin receptor, non-transferrin bound iron and labile plasma iron in order to evaluate temporal changes in iron metabolism and presence of potentially toxic iron species and their impact on survival...
November 9, 2017: Haematologica
Thomas Creasey, Tina Biss, John Lambert, Frances Smith, Barnaby Clark, Peter Carey
No abstract text is available yet for this article.
January 2018: British Journal of Haematology
Bing Li, Jinqin Liu, Yujiao Jia, Jingya Wang, Zefeng Xu, Tiejun Qin, Zhongxun Shi, Zhen Song, Shuailing Peng, Huijun Huang, Liwei Fang, Hongli Zhang, Lijuan Pan, Naibo Hu, Shiqiang Qu, Yue Zhang, Jian Wu, Na Liu, Kun Ru, Gang Huang, Zhijian Xiao
U2AF1 mutations (U2AF1MT) occur commonly in myelodysplastic syndromes (MDS) without ring sideroblasts. The aim of this study was to investigate the clinical and biological implications of different U2AF1 mutation types in MDS. We performed targeted gene sequencing in a cohort of 511 MDS patients. Eighty-six patients (17%) were found to have U2AF1MT, which occurred more common in younger patients (P=0.001) and represented ancestral lesions in a substantial proportion (71%) of cases. ASXL1MT and isolated +8 were significantly enriched in U2AF1MT-positive cases, whereas TP53MT, SF3B1MT and complex karyotypes were inversely associated with U2AF1MT...
October 23, 2017: Genes, Chromosomes & Cancer
Ruiming Ou, Jing Huang, Huijuan Shen, Zhi Liu, Yangmin Zhu, Qi Zhong, Liling Zheng, Mengdong Yao, Yanling She, Shanyao Zhou, Rui Chen, Cheng Li, Qing Zhang, Shuang Liu
The myelodysplastic syndrome (MDS) represents a heterogeneous group of clonal hematologic stem cell disorders with the characteristic of ineffective hematopoiesis leading to low blood counts, and a risk of progression to acute myeloid leukemia (AML). To understand specific molecular characteristics of different MDS subtypes with del(5q), we analyzed the gene expression profiles of CD34+ cells from MDS patients of different databases and its enriched pathways. 44 genes, such as MME and RAG1, and eight related pathways were identified to be commonly changed, indicating their conserved roles in MDS development...
November 2017: Leukemia Research
Thein Hlaing Oo, Cristhiam Mauricio Rojas-Hernandez
Pernicious anemia (PA) is an autoimmune disease of multifactorial etiologies characterized by autoimmune chronic atrophic gastritis, cobalamin deficiency (CD) due to defective absorption of dietary cobalamin from the terminal ileum, and by the presence of intrinsic factor and parietal cell antibodies. PA is a very common cause of CD-related anemia worldwide. Despite advances in the understanding molecular biology and pathophysiology of PA, the diagnosis of PA remains challenging in many circumstances for many clinicians because of its diverse clinical manifestations and the limitations of currently available diagnostic tools...
September 2017: Discovery Medicine
Uwe Platzbecker, Ulrich Germing, Katharina S Götze, Philipp Kiewe, Karin Mayer, Jörg Chromik, Markus Radsak, Thomas Wolff, Xiaosha Zhang, Abderrahmane Laadem, Matthew L Sherman, Kenneth M Attie, Aristoteles Giagounidis
BACKGROUND: Myelodysplastic syndromes are characterised by ineffective erythropoiesis. Luspatercept (ACE-536) is a novel fusion protein that blocks transforming growth factor beta (TGF β) superfamily inhibitors of erythropoiesis, giving rise to a promising new investigative therapy. We aimed to assess the safety and efficacy of luspatercept in patients with anaemia due to lower-risk myelodysplastic syndromes. METHODS: In this phase 2, multicentre, open-label, dose-finding study (PACE-MDS), with long-term extension, eligible patients were aged 18 years or older, had International Prognostic Scoring System-defined low or intermediate 1 risk myelodysplastic syndromes or non-proliferative chronic myelomonocytic leukaemia (white blood cell count <13 000/μL), and had anaemia with or without red blood cell transfusion support...
October 2017: Lancet Oncology
Prateek Bhatia, Aditya Singh, Avani Hedge
Sideroblastic anemias are a rare group of disorders resulting from defective iron incorporation during heme synthesis and hence characterized by anemia and presence of ringed sideroblasts in bone marrow. The most common form is an X-linked disorder caused by mutations in ALAS2 gene. In the current paper, a case of X-linked sideroblastic anemia caused by a novel homozygous deletional mutation in exon 10 of ALAS2 gene is presented. The female infant developed moderately severe anemia at 6 months of age, which did not improve despite adequate nutritional support...
August 2017: Journal of Pediatric Hematology/oncology
Jee-Soo Lee, JaYoon Gu, Hyun Ju Yoo, Youngil Koh, Hyun Kyung Kim
We report a novel ALAS2 gene mutation c.1315A>G (p.Lys439Glu) identified in a family, which caused evidently different hematologic phenotypes. The proband was a 17-year-old man with severe microcytic hypochromic anemia, excessive ring sideroblasts in the bone marrow, and iron overload. A hemizygous ALAS2 mutation in exon 9, c.1315A>G (p.Lys439Glu), was identified through sequence analysis. We assume that this amino acid substitution affects the enzymatic activity of ALAS2 by affecting its interaction with the cofactor pyridoxal 5'-phosphate, since the patient was responsive to pyridoxine treatment...
May 2017: Annals of Clinical and Laboratory Science
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