248 results match your criteria Refractory Anemia With Ring Sideroblasts


Revisiting diagnostic criteria for myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Borderline cases without anemia exist.

Int J Lab Hematol 2019 Feb 27. Epub 2019 Feb 27.

Department of Pathology, Stanford University Medical Center, Stanford, California.

Introduction: Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a rare disease in the 2016 revised World Health Organization (WHO) classification. Diagnostic criteria include the following: persistent thrombocytosis (>450 × 10 /L) with clustering of atypical megakaryocytes, refractory anemia, dyserythropoiesis with ring sideroblasts, and the presence of the spliceosome factor 3b subunit (SF3B1) mutation. It is unclear if anemia should be a required criterion for this diagnosis as cases which show all other features of MDS/MPN-RS-T but without anemia exist. Read More

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http://dx.doi.org/10.1111/ijlh.12981DOI Listing
February 2019
3 Reads

Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis: "2019 Update on Diagnosis, Risk-stratification, and Management".

Am J Hematol 2019 Apr 24;94(4):475-488. Epub 2019 Jan 24.

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.

Disease Overview: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T).

Diagnosis: MDS-RS is a lower-risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥ 15% BM RS (≥5% in the presence of SF3B1 mutations). Read More

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http://doi.wiley.com/10.1002/ajh.25397
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http://dx.doi.org/10.1002/ajh.25397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408294PMC
April 2019
29 Reads

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Pediatr Blood Cancer 2019 Apr 26;66(4):e27591. Epub 2018 Dec 26.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Background: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children.

Results: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Read More

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http://doi.wiley.com/10.1002/pbc.27591
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http://dx.doi.org/10.1002/pbc.27591DOI Listing
April 2019
34 Reads

Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).

Clin Lymphoma Myeloma Leuk 2019 Jan 23;19(1):1-8. Epub 2018 Nov 23.

H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL. Electronic address:

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both MDS and MPN. The World Health Organization classification coined this group designation in 2008 to include chronic myelomonocytic leukemia, atypical chronic myeloid leukemia, juvenile myelomoncoytic leukemia, refractory anemia with ring sideroblasts and thrombocytosis as a provisional entity, and MDS/MPN unclassified. In this review, we highlight the challenges in diagnosing this group of the diseases, summarize the updates in classification, and discuss recent evolving understanding of the genetic landscape. Read More

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http://dx.doi.org/10.1016/j.clml.2018.11.019DOI Listing
January 2019
3 Reads

Methylation level of Rap1GAP and the clinical significance in MDS.

Oncol Lett 2018 Dec 26;16(6):7287-7294. Epub 2018 Sep 26.

Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, Jiangsu 215006, P.R. China.

Previous studies on the pathogenesis of myelodysplastic syndrome (MDS) have identified multiple associated gene mutations, including mutations of tetmethylcytosinedioxygenase 2, isocitrate dehydrogenase [NADP(+)] 1 cytosolic, isocitrate dehydrogenase [NADP(+)] 2 mitochondrial and additional sex combs like 1 transcriptional regulator, all of which may be considered epigenetic regulators. Furthermore, mutations of RAS type GTPase family genes have been identified in 10-15% patients with MDS. The authors' previous study on the gene expression profile of cluster of differentiation 34 cells using microarray analysis identified elevated expression of RAP1GTPase activating protein 1 (Rap1GAP) in patients with MDS compared with that in non-malignant blood diseases (NM) control group. Read More

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http://dx.doi.org/10.3892/ol.2018.9503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256732PMC
December 2018
11 Reads

Impact of splicing factor mutations on clinical features in patients with myelodysplastic syndromes.

Int J Hematol 2018 Dec 23;108(6):598-606. Epub 2018 Oct 23.

Department of Hematology, Juntendo University School of Medicine, Tokyo, Japan.

Splicing factor gene mutations are found in 60-70% of patients with myelodysplastic syndromes (MDS). We investigated the effects of splicing factor gene mutations on the diagnosis, patient characteristics, and prognosis of MDS. A total of 106 patients with MDS were included. Read More

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http://dx.doi.org/10.1007/s12185-018-2551-yDOI Listing
December 2018
8 Reads

Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes.

Haematologica 2019 Mar 4;104(3):497-504. Epub 2018 Oct 4.

Assistance Publique-Hôpitaux de Paris (AP-HP), Service d'Hématologie Biologique, Hôpitaux Universitaires Paris Centre, Institut Cochin, Université Paris Descartes.

Erythropoiesis-stimulating agents are generally the first line of treatment of anemia in patients with lower-risk myelodysplastic syndrome. We prospectively investigated the predictive value of somatic mutations, and biomarkers of ineffective erythropoiesis including the flow cytometry RED score, serum growth-differentiation factor-15, and hepcidin levels. Inclusion criteria were no prior treatment with erythropoiesis-stimulating agents, low- or intermediate-1-risk myelodysplastic syndrome according to the International Prognostic Scoring System, and a hemoglobin level <10 g/dL. Read More

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.203158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395339PMC
March 2019
19 Reads

Rare anemias due to genetic iron metabolism defects.

Mutat Res 2018 Jul - Sep;777:52-63. Epub 2018 Jun 22.

Univ. Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F- 35000 Rennes, France. Electronic address:

Anemia is defined by a deficiency of hemoglobin, an iron-rich protein that binds oxygen in the blood. It can be due to multiple causes, either acquired or genetic. Alterations of genes involved in iron metabolism may be responsible, usually at a young age, for rare forms of chronic and often severe congenital anemia. Read More

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http://dx.doi.org/10.1016/j.mrrev.2018.06.003DOI Listing
November 2018
4 Reads

SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS.

J Hematol Oncol 2018 Feb 12;11(1):19. Epub 2018 Feb 12.

Department of Hematology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, Henan, People's Republic of China.

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. Read More

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http://dx.doi.org/10.1186/s13045-018-0558-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810112PMC
February 2018
19 Reads

[Gene mutations from 511 myelodysplastic syndromes patients performed by targeted gene sequencing].

Zhonghua Xue Ye Xue Za Zhi 2017 Dec;38(12):1012-1016

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, The State Key Laboratory of Experimental Hematology, Tianjin 300020, China.

To study the characteristics of gene mutations in Chinese myelodysplastic syndromes (MDS) patients. A total of 511 Chinese patients with MDS performed 112-gene targeted sequencing were retrospectively analyzed. Eighty-three distinct mutant genes were found in 511 patients with MDS. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2017.12.002DOI Listing
December 2017
10 Reads

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.

Am J Med Genet A 2018 03 13;176(3):687-691. Epub 2018 Jan 13.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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. Read More

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http://dx.doi.org/10.1002/ajmg.a.38599DOI Listing
March 2018
5 Reads

[Ring sideroblasts].

Tidsskr Nor Laegeforen 2017 11 13;137(21). Epub 2017 Nov 13.

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http://tidsskriftet.no/2017/11/medisinen-i-bilder/ringsidero
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http://dx.doi.org/10.4045/tidsskr.17.0502DOI Listing
November 2017
5 Reads

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms.

Klin Padiatr 2017 Nov 13;229(6):329-334. Epub 2017 Nov 13.

Faculty of Medicine, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg.

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. Read More

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http://dx.doi.org/10.1055/s-0043-117046DOI Listing
November 2017
12 Reads

Refractory anemia with ring sideroblasts and thrombocytosis.

Authors:
Sarita Pradhan

Blood Res 2017 Mar 27;52(1). Epub 2017 Mar 27.

Department of Pathology, IMS &SUM Hospital, Bhubaneswar, India.

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http://dx.doi.org/10.5045/br.2017.52.1.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383598PMC
March 2017
8 Reads

Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management.

Am J Hematol 2017 Mar;92(3):297-310

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.

Disease Overview: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T).

Diagnosis: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations). Read More

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http://dx.doi.org/10.1002/ajh.24637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312971PMC
March 2017
44 Reads

Treatment of Refractory Anemia with Ring Sideroblasts Associated with Marked Thrombocytosis with Lenalidomide in a Patient Testing Negative for 5q Deletion and V617F and W515K/L Mutations.

Hematol Rep 2016 Nov 2;8(4):6592. Epub 2016 Nov 2.

Department of Hematology/Oncology, Medical College of Georgia, Augusta University , Augusta, GA, USA.

Refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) is a hematologic malignancy that often results in transfusion dependency and a hypercoagulable state. This rare disease currently lacks formal guidelines for treatment; however, various case reports have demonstrated efficacy in the use of lenalidomide. This immunomodulatory drug has shown promise in patients with 5q deletions, with reports of achieving transfusion independence and normalization of platelet counts. Read More

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http://dx.doi.org/10.4081/hr.2016.6592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5136742PMC
November 2016
18 Reads

Clinical management of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.

Cancer Biol Med 2016 Sep;13(3):360-372

Malignant Hematology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA.

The myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) are a unique group of hematologic malignancies characterized by concomitant myelodysplastic and myeloproliferative features. According to the 2008 WHO classification, the category includes atypical chronic myeloid leukemia (aCML), chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), MDS/MPN-unclassifiable (MDS/MPN-U), and the provisional entity refractory anemia with ring sideroblasts and thrombocytosis (RARS-T). Although diagnosis currently remains based on clinicopathologic features, the incorporation of next-generation platforms has allowed for the recent molecular characterization of these diseases which has revealed unique and complex mutational profiles that support their distinct biology and is anticipated to soon play an integral role in diagnosis, prognostication, and treatment. Read More

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http://dx.doi.org/10.20892/j.issn.2095-3941.2016.0043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069836PMC
September 2016
33 Reads

Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis.

Leukemia 2016 11 1;30(11):2273-2275. Epub 2016 Aug 1.

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1038/leu.2016.216DOI Listing
November 2016
5 Reads

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS).

Leuk Lymphoma 2017 07 24;58(7):1686-1693. Epub 2016 Oct 24.

a Department of Hematology , University Hospital La Fe , Valencia , Spain.

The incidence of SF3B1 mutations in patients with RARS is high. Recently, it has been shown that SF3B1 and DNMT3A mutations overlap more often than expected, although it is not clear how this could affect the disease. We studied SF3B1 and DNMT3A in 123 RARS patients: 101 out of 123 samples (82%) had somatic mutations in SF3B1, and 13 of them (13%) showed a co-mutation (SF3B1DNMT3A). Read More

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http://dx.doi.org/10.1080/10428194.2016.1246725DOI Listing
July 2017
20 Reads

[Clinically relevant possibilities and limits of differential diagnosis of megaloblastic anemia and myelodysplastic syndrome - refractory anemia type in bone marrow biopsies].

Vnitr Lek Fall 2016;62(9):692-697

Introduction: Megaloblastic anemia (MA) represents a subtype of macrocytic anemia caused by impaired DNA synthesis, mostly due to folate and vitamin B12 deficiency. Its mildest forms lead to macrocytosis without concomitant anemia, but more severe forms to thrombocytopenia and/or leucopenia as well. In majority of the cases, the diagnosis of MA dose not represent a serious clinical problem, however, other causes of macrocytosis including myelodysplastic syndrome (MDS) must be excluded. Read More

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June 2017
18 Reads

Changes in the Updated 2016: WHO Classification of the Myelodysplastic Syndromes and Related Myeloid Neoplasms.

Authors:
John M Bennett

Clin Lymphoma Myeloma Leuk 2016 11 12;16(11):607-609. Epub 2016 Aug 12.

Pathology and Laboratory Medicine, Departments of Pathology and Medicine, James P. Wilmot Cancer Institute, University of Rochester Medical Center, Rochester, NY. Electronic address:

In comparison with the 2008 World Health Organization "Blue Book" on hematopoietic neoplasms, a small number of changes have been made in the classification. In the lower-risk patients, Refractory Cytopenias with Multilineage Dysplasia and Ring Sideroblasts (RCMD-RS) has been separated from RCMD to recognize the importance of the SF3B1 mutation. Often there has been confusion as to the degree of morphologic dysplasia and/or cytopenias to define some of the lower-risk subtypes. Read More

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http://dx.doi.org/10.1016/j.clml.2016.08.005DOI Listing
November 2016
4 Reads

An Exercise in Extrapolation: Clinical Management of Atypical CML, MDS/MPN-Unclassifiable, and MDS/MPN-RS-T.

Curr Hematol Malig Rep 2016 12;11(6):425-433

H. Lee Moffitt Cancer Center and Research Institute, Malignant Hematology, Tampa, FL, USA.

According to the recently published 2016 World Health Organization (WHO) classification of myeloid malignancies, myelodysplastic/myeloproliferative neoplasms (MDS/MPN) include atypical chronic myeloid leukemia (aCML), MDS/MPN-unclassifiable (MDS/MPN-U), chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), and MDS/MPN ring sideroblasts with thrombocytosis (MDS/MPN-RS-T). MDS/MPN-RS-T was previously a provisional category known as refractory anemia with ring sideroblasts with thrombocytosis (RARS-T) which has now attained a distinct designation in the 2016 WHO classification. In this review, we focus on biology and management of aCML, MDS/MPN-U, and MDS/MPN-RS-T. Read More

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http://dx.doi.org/10.1007/s11899-016-0350-1DOI Listing
December 2016
96 Reads

Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation.

Cancer Cell 2016 09;30(3):404-417

Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

More than 80% of patients with the refractory anemia with ring sideroblasts subtype of myelodysplastic syndrome (MDS) have mutations in Splicing Factor 3B, Subunit 1 (SF3B1). We generated a conditional knockin mouse model of the most common SF3B1 mutation, Sf3b1(K700E). Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion. Read More

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http://dx.doi.org/10.1016/j.ccell.2016.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023069PMC
September 2016
44 Reads
33 Citations
23.523 Impact Factor

Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.

Br J Haematol 2016 09 8;174(6):847-58. Epub 2016 Jul 8.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Myeloid neoplasms with ring sideroblasts are currently categorized within the myelodysplastic syndromes (MDS) or myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in the World Health Organization classification. Recent findings have identified that the presence of ring sideroblasts in these disorders has a unique molecular basis, i.e. Read More

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http://dx.doi.org/10.1111/bjh.14215DOI Listing
September 2016
14 Reads

Erythroblast morphology in refractory anemia with ring sideroblasts and thrombocytosis.

Am J Hematol 2016 Oct 4;91(10):1056. Epub 2016 Jul 4.

Department of Haematology, St Mary's Hospital and Centre for Haematology, St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/ajh.24448DOI Listing
October 2016
5 Reads

Myeloid malignancies in the real-world: Occurrence, progression and survival in the UK's population-based Haematological Malignancy Research Network 2004-15.

Cancer Epidemiol 2016 06 16;42:186-98. Epub 2016 Apr 16.

Queens Centre for Oncology, Castle Hill Hospital, HU16 5JQ, UK.

Background: Population-based information on cancer incidence, prevalence and outcome are required to inform clinical practice and research; but contemporary data are lacking for many myeloid malignancy subtypes.

Methods: Set within a socio-demographically representative UK population of ∼4 million, myeloid malignancy data (N=5231 diagnoses) are from an established patient cohort. Information on incidence, survival (relative & overall), transformation/progression, and prevalence is presented for >20 subtypes. Read More

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http://dx.doi.org/10.1016/j.canep.2016.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911595PMC
June 2016
10 Reads

Management of differentiation syndrome in an elderly patient with acute promyelocytic leukemia who subsequently developed refractory anemia with ring sideroblasts.

Leuk Lymphoma 2016 12 13;57(12):2905-2907. Epub 2016 Apr 13.

b Department of Medicine, Division of Hematology/Oncology , University of Wisconsin , Madison , WI , USA.

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http://dx.doi.org/10.3109/10428194.2016.1165813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588882PMC
December 2016
10 Reads

Imetelstat therapy in refractory anemia with ring sideroblasts with or without thrombocytosis.

Blood Cancer J 2016 Mar 11;6:e405. Epub 2016 Mar 11.

Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1038/bcj.2016.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817097PMC
March 2016
17 Reads

Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing.

Am J Hematol 2016 May 4;91(5):492-8. Epub 2016 Apr 4.

Division of Hematology, Mayo Clinic, Rochester, Minnesota.

Refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) shares overlapping features of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). RARS-T is characterized by SF3B1 and JAK2 mutations and prognosis is considered to be better than MDS but not as good as MPN. The objective of the study was to identify predictors of survival in RARS-T. Read More

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http://dx.doi.org/10.1002/ajh.24332DOI Listing
May 2016
28 Reads

Rare microcytic anemias.

Bull Acad Natl Med 2016 Feb;200(2):335-347

Microcytic anemia is often due to disorder of globin genes. Here, we focus on rare monogenic microcytic anemias, We describe the diferent congenital forms that are due to mutations in genes implicated in iron homeostasis, the heme biosynthesis pathway, the cluster Fe-S biosynthesis pathway andmitochondrial proteins biosynthesis pathway. Among rare congenital microcytic anemias, most frequent forms are non syndromic sideroblastic anemias and iron refractory iron deficiency anemias (IRIDA). Read More

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February 2016
6 Reads

Reclassifying myelodysplastic syndromes: what's where in the new WHO and why.

Hematology Am Soc Hematol Educ Program 2015 ;2015:294-8

Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.

A revision to the 4th edition of the WHO Classification of myelodysplastic syndromes (MDSs), originally published in 2008, is expected in mid-2016. Based on recommendations of a Clinical Advisory Committee, the revision will aim to incorporate new discoveries in MDS that impact existing disease categories. Although the basic diagnostic principles of the WHO classification remain unchanged, several changes to the classification are proposed. Read More

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http://dx.doi.org/10.1182/asheducation-2015.1.294DOI Listing
October 2016
12 Reads

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Hematology Am Soc Hematol Educ Program 2015 ;2015:19-25

Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia; and Department of Molecular Medicine, University of Pavia Medical School, Pavia, Italy.

The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males have a hypochromic microcytic anemia, which is generally mild to moderate and is caused by defective heme synthesis and ineffective erythropoiesis. Read More

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http://dx.doi.org/10.1182/asheducation-2015.1.19DOI Listing
October 2016
19 Reads

Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study.

Rheumatology (Oxford) 2016 Feb 8;55(2):291-300. Epub 2015 Sep 8.

AP-HP, Hôpital Saint Antoine, service de medicine interne and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), Paris,

Objective: We describe myelodysplastic syndrome (MDS)-associated systemic inflammatory and autoimmune diseases (SIADs), their treatments and outcomes and the impact of SIADs on overall survival in a French multicentre retrospective study.

Methods: In this study, 123 patients with MDS and SIADs were analysed.

Results: Mean age was 70 years (s. Read More

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http://dx.doi.org/10.1093/rheumatology/kev294DOI Listing
February 2016
133 Reads

An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms.

Haematologica 2015 Sep;100(9):1117-30

H. Lee Moffitt Cancer Center, Tampa, FL, USA.

In the 2008 WHO classification, chronic myeloid malignancies that share both myelodysplastic and myeloproliferative features define the myelodysplastic/myeloproliferative group, which includes chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia, refractory anemia with ring sideroblasts and thrombocytosis, and myelodysplastic/myeloproliferative unclassified. With the notable exception of refractory anemia with ring sideroblasts and thrombocytosis, there is much overlap among the various subtypes at the molecular and clinical levels, and a better definition of these entities, an understanding of their biology and an identification of subtype-specific molecular or cellular markers are needed. To address some of these challenges, a panel comprised of laboratory and clinical experts in myelodysplastic/myeloproliferative was established, and four independent academic MDS/MPN workshops were held on: 9(th) March 2013, in Miami, Florida, USA; 6(th) December 2013, in New Orleans, Louisiana, USA; 13(th) June 2014 in Milan, Italy; and 5(th) December 2014 in San Francisco, USA. Read More

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http://dx.doi.org/10.3324/haematol.2014.114660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800699PMC
September 2015
46 Reads

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts.

Br J Haematol 2015 Nov 10;171(4):478-90. Epub 2015 Aug 10.

Karolinska Institutet, Department of Medicine (Huddinge), Centre for Hematology and Regenerative Medicine, Stockholm, Sweden.

Refractory anaemia with ring sideroblasts (RARS) is distinguished by hyperplastic inefficient erythropoiesis, aberrant mitochondrial ferritin accumulation and anaemia. Heterozygous mutations in the spliceosome gene SF3B1 are found in a majority of RARS cases. To explore the link between SF3B1 mutations and anaemia, we studied mutated RARS CD34(+) marrow cells with regard to transcriptome sequencing, splice patterns and mutational allele burden during erythroid differentiation. Read More

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http://dx.doi.org/10.1111/bjh.13610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832260PMC
November 2015
75 Reads

Myelodysplastic syndromes in Chernobyl clean-up workers.

Ann Hematol 2015 Oct 25;94(10):1639-43. Epub 2015 Jul 25.

RE Kavetsky Institute of Experimental Pathology, Oncology & Radiobiology of the National Academy of Sciences of Ukraine, Vasylkivska 45, 03022, Kyiv, Ukraine,

The studies of the recent decades posed the question of the association between radiation exposure and myelodysplastic syndromes (MDS). This association has been proved in secondary MDS originating upon exposure to chemotherapeutics and/or radiation therapy. The long-term study in Japanese atomic (A)-bomb survivors demonstrated the significant linear dose-response for MDS confirming the link between radiation exposure and this form of hematopoietic malignancies. Read More

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http://dx.doi.org/10.1007/s00277-015-2441-9DOI Listing
October 2015
9 Reads

Effectiveness of lenalidomide in a patient with refractory anemia with ring sideroblasts and thrombocytosis with JAK2 (V617F) mutation.

Am J Hematol 2015 Aug 28;90(8):E148-9. Epub 2015 May 28.

Department of Hematology, San Bortolo Hospital, Vicenza, Italy.

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http://dx.doi.org/10.1002/ajh.24049DOI Listing
August 2015
11 Reads

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.

Blood 2015 Jul 8;126(2):233-41. Epub 2015 May 8.

Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden;

Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome (MDS) characterized by isolated erythroid dysplasia and 15% or more bone marrow ring sideroblasts. Ring sideroblasts are found also in other MDS subtypes, such as refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS). A high prevalence of somatic mutations of SF3B1 was reported in these conditions. Read More

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http://dx.doi.org/10.1182/blood-2015-03-633537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528082PMC
July 2015
23 Reads

Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.

PLoS One 2015 8;10(5):e0126555. Epub 2015 May 8.

IBMCC, Centro de Investigación del Cáncer (CIC), Universidad de Salamanca-CSIC, Salamanca, Spain; IBSAL, Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain; Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.

The presence of SF3B1 gene mutations is a hallmark of refractory anemia with ring sideroblasts (RARS). However, the mechanisms responsible for iron accumulation that characterize the Myelodysplastic Syndrome with ring sideroblasts (MDS-RS) are not completely understood. In order to gain insight in the molecular basis of MDS-RS, an integrative study of the expression and mutational status of genes related to iron and mitochondrial metabolism was carried out. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0126555PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425562PMC
April 2016
22 Reads

Molecular and phenotypic heterogeneity of refractory anemia with ring sideroblasts associated with marked thrombocytosis.

Leuk Lymphoma 2016 25;57(1):212-5. Epub 2015 Jun 25.

b Department of Laboratory Medicine , Cleveland Clinic , Cleveland , OH , USA.

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http://dx.doi.org/10.3109/10428194.2015.1045895DOI Listing
October 2016
9 Reads

[Analysis of the karyotype abnormalities and its prognostic in 298 patients with myelodysplastic syndrome].

Zhonghua Xue Ye Xue Za Zhi 2015 Apr;36(4):297-301

MDS Center, 1st Affiliated Hospital College of Medicine, Zhejiang University, Hangzhou 310003, China.

Objective: To investigate the relationship between cytogenetic markers with World Health Organization (WHO) classification, disease progress and prognosis in cases with primary myelodysplastic syndromes (MDS).

Methods: 298 patients with de novo MDS from the first affiliated hospital of medical school, Zhejiang University were enrolled in the retrospective analysis of WHO classification, karyotype, and prognosis. Follow-up study was also conducted. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2015.04.008DOI Listing
April 2015
29 Reads

Refractory anemia with ring sideroblasts and RARS with thrombocytosis.

Am J Hematol 2015 Jun;90(6):549-59

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.

Disease Overview: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T).

Diagnosis: RARS is a lower risk myelodysplastic syndrome (MDS) with dysplasia limited to the erythroid lineage, <5% bone marrow (BM) blasts and ≥15% BM RS. Read More

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http://dx.doi.org/10.1002/ajh.24038DOI Listing
June 2015
32 Reads

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells.

Leukemia 2015 May 27;29(5):1092-103. Epub 2014 Nov 27.

LLR Molecular Haematology Unit, NDCLS, RDM, University of Oxford, Oxford, UK.

The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), particularly in patients with refractory anemia with ring sideroblasts (RARS). We investigated the functional effects of SF3B1 disruption in myeloid cell lines: SF3B1 knockdown resulted in growth inhibition, cell cycle arrest and impaired erythroid differentiation and deregulation of many genes and pathways, including cell cycle regulation and RNA processing. MDS is a disorder of the hematopoietic stem cell and we thus studied the transcriptome of CD34(+) cells from MDS patients with SF3B1 mutations using RNA sequencing. Read More

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http://dx.doi.org/10.1038/leu.2014.331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430703PMC
May 2015
17 Reads

Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts.

Ann Hematol 2015 Apr 13;94(4):565-73. Epub 2014 Nov 13.

Department of Hematology, Hospital General Universitario Gregorio Marañon, C/ Doctor Esquerdo 46, 28007, Madrid, Spain,

Previous studies have shown the reproducibility of the 2008 World Health Organization (WHO) classification in myelodysplastic syndromes (MDS), especially when multilineage dysplasia or excess of blasts are present. However, there are few data regarding the reproducibility of MDS with unilineage dysplasia. The revised International Prognostic Scoring System R-IPSS described two new morphological categories, distinguishing bone marrow (BM) blast cell count between 0-2 % and >2- < 5 %. Read More

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http://link.springer.com/10.1007/s00277-014-2252-4
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http://dx.doi.org/10.1007/s00277-014-2252-4DOI Listing
April 2015
41 Reads

Refractory anaemia with ring sideroblasts and monosomy 7 in a 10-year-old child.

Int J Hematol 2014 Dec 17;100(6):521-2. Epub 2014 Sep 17.

Department of Haematology, University Hospital of Amiens, Amiens, France.

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http://dx.doi.org/10.1007/s12185-014-1671-2DOI Listing
December 2014
9 Reads

Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.

Int J Hematol 2015 Mar 12;101(3):229-42. Epub 2014 Sep 12.

Haematology Research Laboratory, Biomedical Research Foundation, Academy of Athens, Athens, Greece.

According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) includes atypical chronic myeloid leukaemia (aCML), chronic myelomonocytic leukaemia (CMML), MDS/MPN-unclassifiable (MDS/MPN-U), juvenile myelomonocytic leukaemia (JMML) and a "provisional" entity, refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T). The remarkable progress in our understanding of the somatic pathogenesis of MDS/MPN has made it clear that there is considerable overlap among these diseases at the molecular level, as well as layers of unexpected complexity. Deregulation of signalling plays an important role in many cases, and is clearly linked to more highly proliferative disease. Read More

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http://link.springer.com/content/pdf/10.1007%2Fs12185-014-16
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http://link.springer.com/10.1007/s12185-014-1670-3
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http://dx.doi.org/10.1007/s12185-014-1670-3DOI Listing
March 2015
7 Reads

I walk the other line: myelodysplastic/myeloproliferative neoplasm overlap syndromes.

Authors:
Aaron T Gerds

Curr Hematol Malig Rep 2014 Dec;9(4):400-6

Leukemia Program, Cleveland Clinic Taussig Cancer Institute, Desk R35, 9500 Euclid Avenue, Cleveland, OH, 44195, USA,

Patients with the myelodysplastic syndromes/myeloproliferative neoplasm (MDS/MPN) overlap, including chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML), MDS/MPN-unclassifiable (MDS/MPN-U), and refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T), often present with findings of both dysplasia and marrow proliferation, occupying the border region of two seemingly divergent camps. Historically, these disorders which have been lumped with either MDS or MPN have represented a minority, or been excluded all together, from the development of prognostic models and clinical trials. Therefore, Food and Drug Administration approved therapies specifically for overlap subtypes are lacking. Read More

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http://dx.doi.org/10.1007/s11899-014-0233-2DOI Listing
December 2014
22 Reads

Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.

Leukemia 2015 Jan 23;29(1):188-95. Epub 2014 May 23.

1] Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA [2] Leukemia Program, Department of Hematologic Oncology and Blood Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.

Perturbation in iron homeostasis is a hallmark of some hematologic diseases. Abnormal sideroblasts with accumulation of iron in the mitochondria are named ring sideroblasts (RS). RS is a cardinal feature of refractory anemia with RS (RARS) and RARS with marked thrombocytosis (RARS/-T). Read More

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http://dx.doi.org/10.1038/leu.2014.170DOI Listing
January 2015
16 Reads