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Ring sideroblasts

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https://www.readbyqxmd.com/read/27863760/splicing-factor-sf3b1-mutations-and-ring-sideroblasts-in-myelodysplastic-syndromes-a-brazilian-cohort-screening-study
#1
Flávia Sacilotto Donaires, Felipe Martelli, Raquel de Melo Alves-Paiva, Silvia Maria Meira Magalhães, Ronald Feitosa Pinheiro, Rodrigo Tocantins Calado
BACKGROUND: Myelodysplastic syndromes (MDS) comprise a group of malignant clonal hematologic disorders characterized by ineffective hematopoiesis and propensity for progression to acute myeloid leukemia. Acquired mutations in the gene encoding RNA splicing factor 3B subunit 1 (SF3B1) are highly associated with the MDS subtypes presenting ring sideroblasts, and represent a specific nosological entity. The effects of these mutations on clinical outcomes are diverse and contrasting. METHODS: A cohort of 91 Brazilian MDS patients, including patients with ring sideroblasts in the bone marrow, were screened for mutations in the SF3B1 hotspots (exons 12-15) by direct Sanger sequencing...
October 2016: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/27863751/new-developments-in-the-understanding-and-diagnosis-of-myelodysplastic-syndromes-with-ring-sideroblasts
#2
Lorena Bedotti Ribeiro, Erich V De Paula
No abstract text is available yet for this article.
October 2016: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/27808451/ringed-sideroblasts-in-%C3%AE-thalassemia
#3
Kim Cattivelli, Dean R Campagna, Klaus Schmitz-Abe, Matthew M Heeney, Hassan M Yaish, Amy E Caruso Brown, Susan Kearney, Kelly Walkovich, Kyriacos Markianos, Mark D Fleming, Ellis J Neufeld
Symptomatic β-thalassemia is one of the globally most common inherited disorders. The initial clinical presentation is variable. Although common hematological analyses are typically sufficient to diagnose the disease, sometimes the diagnosis can be more challenging. We describe a series of patients with β-thalassemia whose diagnosis was delayed, required bone marrow examination in one affected member of each family, and revealed ringed sideroblasts, highlighting the association of this morphological finding with these disorders...
November 3, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27807503/clinical-management-of-myelodysplastic-syndrome-myeloproliferative-neoplasm-overlap-syndromes
#4
Joseph A Clara, David A Sallman, Eric Padron
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...
September 2016: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/27771989/negative-impact-on-clinical-outcome-of-the-mutational-co-occurrence-of-sf3b1-and-dnmt3a-in-refractory-anemia-with-ring-sideroblasts-rars
#5
Iván Martín, Esperanza Such, Blanca Navarro, Ana Vicente, María López-Pavía, Mariam Ibáñez, Mar Tormo, Eva Villamón, Inés Gómez-Seguí, Irene Luna, Silvestre Oltra, Laia Pedrola, Miguel Angel Sanz, Jose Cervera, Guillermo Sanz
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 (SF3B1(mut)DNMT3A(mut)). All co-mutated patients had a normal karyotype, and 12 of them (92%) were lower-risk patients (IPSS and IPSS-R). Despite their favorable profile, SF3B1(mut)DNMT3A(mut) patients showed a higher RBC transfusion dependency (92% versus 48%, p = ...
October 24, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27725596/progress-in-the-diagnosis-of-and-therapy-for-mds
#6
Yasuhito Nannya
The WHO classification system of MDS 4(th) edition was recently updated. This revision includes nomenclature changes, reflecting the policy of the revision team to emphasize morphological features over cytopenias. Other changes are 1) taking SF3B1 mutation status into account for the definition criteria of MDS-RS (ring sideroblasts), 2) allowing for one additional cytogenetic abnormality (excluding -7/del (7q)) to be diagnosed as 'MDS with isolated del (5q)', 3) sub-classifying MDS-U according to the reasons for being included in this category, and 4) changing the diagnostic rules for myeloid neoplasms with erythroid blast predominance...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27715070/-clinically-relevant-possibilities-and-limits-of-differential-diagnosis-of-megaloblastic-anemia-and-myelodysplastic-syndrome%C3%A2-refractory-anemia-type-in-bone-marrow-biopsies
#7
Petra Vašeková, Peter Szépe, Ján Marcinek, Tomáš Balhárek, Lukáš Plank
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...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27693133/changes-in-the-updated-2016-who-classification-of-the-myelodysplastic-syndromes-and-related-myeloid-neoplasms
#8
John M Bennett
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. In addition, the type of dysplasia or cytopenias is not always concordant...
November 2016: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/27664113/an-exercise-in-extrapolation-clinical-management-of-atypical-cml-mds-mpn-unclassifiable-and-mds-mpn-rs-t
#9
Chetasi Talati, Eric Padron
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...
September 24, 2016: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/27622333/physiologic-expression-of-sf3b1-k700e-causes-impaired-erythropoiesis-aberrant-splicing-and-sensitivity-to-therapeutic-spliceosome-modulation
#10
Esther A Obeng, Ryan J Chappell, Michael Seiler, Michelle C Chen, Dean R Campagna, Paul J Schmidt, Rebekka K Schneider, Allegra M Lord, Lili Wang, Rutendo G Gambe, Marie E McConkey, Abdullah M Ali, Azra Raza, Lihua Yu, Silvia Buonamici, Peter G Smith, Ann Mullally, Catherine J Wu, Mark D Fleming, Benjamin L Ebert
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. Sf3b1(K700E) myeloid progenitors and SF3B1-mutant MDS patient samples demonstrate aberrant 3' splice-site selection associated with increased nonsense-mediated decay...
September 12, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27604819/hemopoietic-specific-sf3b1-k700e-knock-in-mice-display-the-splicing-defect-seen-in-human-mds-but-develop-anemia-without-ring-sideroblasts
#11
A Mupo, M Seiler, V Sathiaseelan, A Pance, Y Yang, A A Agrawal, F Iorio, R Bautista, S Pacharne, K Tzelepis, N Manes, P Wright, E Papaemmanuil, D G Kent, P C Campbell, S Buonamici, N Bolli, G S Vassiliou
Heterozygous somatic mutations affecting the spliceosome gene SF3B1 drive age-related clonal hematopoiesis, myelodysplastic syndromes (MDS) and other neoplasms. To study their role in such disorders, we generated knock-in mice with hematopoietic-specific expression of Sf3b1-K700E, the commonest type of SF3B1 mutation in MDS. Sf3b1(K700E/+) animals had impaired erythropoiesis and progressive anemia without ringed sideroblasts, as well as reduced hematopoietic stem cell numbers and host-repopulating fitness. To understand the molecular basis of these observations, we analyzed global RNA splicing in Sf3b1(K700E/+) hematopoietic cells...
October 21, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27595736/activin-receptor-ii-ligand-traps-and-their-therapeutic-potential-in-myelodysplastic-syndromes-with-ring-sideroblasts
#12
Anna Mies, Olivier Hermine, Uwe Platzbecker
Distinct subtypes of lower risk myelodysplastic syndromes display ring sideroblasts in the bone marrow, i. e., erythroid progenitors characterized by excessive iron deposited in the mitochondria. This morphological feature is frequently associated with somatic mutations in components of the splicing machinery that constitutes the underlying molecular principle of the disease. Conventional treatment regimen with erythropoiesis-stimulating agents often fails to induce sustained erythroid improvement in these patients that harbor defects in late-stage erythroblasts downstream of erythropoietin action...
September 5, 2016: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/27588186/myelodysplastic-syndrome-without-ring-sideroblasts-and-with-janus-kinase-2-gene-mutation-an-unusual-case-report
#13
Maria Helena Ornellas, Monique De França Silva, Cristiana Solza, Stella Beatriz Sampaio De Lucena Gonçalves, Liliane Silva De Almeida, Jackline De Paula Ayres-Silva, Taís Leite Seixas, Elenice Ferreira Bastos, Thomas Liehr, Gilda Alves
Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with cytopenias of different grades and risk of developing acute myeloid leukemia. MDS may rarely be associated with thrombocytosis. In such cases, myelodysplasia and myeloproliferative disorders may overlap, making correct diagnosis difficult. We herein describe a case of MDS with thrombocytosis, Janus kinase 2 gene mutation-positive and Perls' staining-negative, which was initially classified as essential thrombocythemia (ET)...
September 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27492253/targeting-splicing-in-the-treatment-of-myelodysplastic-syndromes-and-other-myeloid-neoplasms
#14
Charlotte K Brierley, David P Steensma
Genome sequencing of primary cells from patients with myelodysplastic syndromes (MDS) led to the identification of recurrent heterozygous mutations in gene encoding components of the spliceosome, the cellular machinery which processes pre-messenger RNA (mRNA) to mature mRNA during gene transcription. Splicing mutations are mutually exclusive with one another and collectively represent the most common mutation class in MDS, occurring in approximately 60 % of patients overall and more than 80 % of those with ring sideroblasts...
August 5, 2016: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/27479179/vascular-events-and-risk-factors-for-thrombosis-in-refractory-anemia-with-ring-sideroblasts-and-thrombocytosis-rars-t
#15
M M Patnaik, T L Lasho, C M Finke, C A Hanson, R L King, R P Ketterling, N Gangat, A Tefferi
Leukemia accepted article preview online, 01 August 2016. doi:10.1038/leu.2016.216.
August 1, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27466740/megaloblastic-anaemia-with-ring-sideroblasts-not-always-mds
#16
Neha Chopra Narang, Mrinalini Kotru, Kavana Rao, Meera Sikka
No abstract text is available yet for this article.
July 28, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/27391606/recent-advances-in-the-understanding-of-myelodysplastic-syndromes-with-ring-sideroblasts
#17
REVIEW
Luca Malcovati, Mario Cazzola
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., the somatic mutation of SF3B1, a gene encoding a splicing factor. Mutations of SF3B1 occur in up to 90% of patients with refractory anaemia with unilineage dysplasia (RARS) and 70% of those with refractory cytopenia with multilineage dysplasia and ring sideroblasts or RARS associated with marked thrombocytosis...
September 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27365882/a-case-of-erythropoietic-protoporphyria
#18
Kathryn Lindsey, Micah Burch, John R Krause
A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts. Serum, plasma, and erythrocyte protoporphyrin levels were elevated, the findings of which are consistent with a diagnosis of erythropoietic protoporphyria. This paper discusses the diagnosis and etiology of the porphyrias...
July 2016: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/27301073/erythroblast-morphology-in-refractory-anemia-with-ring-sideroblasts-and-thrombocytosis
#19
Giovanni Caocci, Giorgio La Nasa, Barbara J Bain
No abstract text is available yet for this article.
October 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27247955/sideroblastic-anemia-functional-study-of-two-novel-missense-mutations-in-alas2
#20
Manuel Méndez, María-Isabel Moreno-Carralero, Marta Morado-Arias, María-Cristina Fernández-Jiménez, Silvia de la Iglesia Iñigo, María-José Morán-Jiménez
BACKGROUND: X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow. XLSA is caused by mutations in the erythroid-specific gene coding 5-aminolevulinate synthase (ALAS2). Anemia in XLSA is extremely variable, characteristically microcytic and hypochromic with poikilocytosis, and the red blood cell distribution width is increased and prominent dimorphism of the red cell population...
May 2016: Molecular Genetics & Genomic Medicine
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