Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet

L Malcovati, E Hellström-Lindberg… - Blood, The Journal …, 2013 - ashpublications.org
Within the myelodysplastic syndrome (MDS) work package of the European LeukemiaNet,
an Expert Panel was selected according to the framework elements of the National Institutes …

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes

JW Vardiman, J Thiele, DA Arber… - Blood, The Journal …, 2009 - ashpublications.org
Recently the World Health Organization (WHO), in collaboration with the European
Association for Haematopathology and the Society for Hematopathology, published a …

[HTML][HTML] Physiologic expression of Sf3b1K700E causes impaired erythropoiesis, aberrant splicing, and sensitivity to therapeutic spliceosome modulation

EA Obeng, RJ Chappell, M Seiler, MC Chen… - Cancer cell, 2016 - cell.com
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) …

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

L Malcovati, M Karimi, E Papaemmanuil… - Blood, The Journal …, 2015 - ashpublications.org
Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome (MDS)
characterized by isolated erythroid dysplasia and 15% or more bone marrow ring …

Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia

C Elena, A Galli, E Such… - Blood, The Journal …, 2016 - ashpublications.org
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative
neoplasm with variable clinical course. To predict the clinical outcome, we previously …

[HTML][HTML] Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions

P Valent, A Orazi, DP Steensma, BL Ebert, D Haase… - Oncotarget, 2017 - ncbi.nlm.nih.gov
Myelodysplastic syndromes (MDS) comprise a heterogeneous group of myeloid neoplasms
characterized by peripheral cytopenia, dysplasia, and a variable clinical course with about …

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

L Malcovati, E Papaemmanuil… - Blood, The Journal …, 2011 - ashpublications.org
In a previous study, we identified somatic mutations of SF3B1, a gene encoding a core
component of RNA splicing machinery, in patients with myelodysplastic syndrome (MDS) …

[HTML][HTML] Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia

Y Shiozawa, L Malcovati, A Gallì, A Sato-Otsubo… - Nature …, 2018 - nature.com
Spliceosome mutations are frequently found in myelodysplasia. Splicing alterations induced
by these mutations, their precise targets, and the effect at the transcript level have not been …

Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia

L Malcovati, E Papaemmanuil… - Blood, The Journal …, 2014 - ashpublications.org
Our knowledge of the genetic basis of myelodysplastic syndromes (MDS) and
myelodysplastic/myeloproliferative neoplasms (MDS/MPN) has considerably improved. To …

Recent developments in myelodysplastic syndromes

R Bejar, DP Steensma - Blood, The Journal of the American …, 2014 - ashpublications.org
Once thought to be rare disorders, the myelodysplastic syndromes (MDS) are now
recognized as among the most common hematological neoplasms, probably affecting> 30 …