Myelodysplastic syndromes: the complexity of stem-cell diseases. Nat Rev Cancer 2007;7(2):118–29., , et al.
Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982;51(2):189–99., , et al.
The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100(7):2292–302., , .
The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009;114(5):937–51., , et al.
International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997;89(6):2079–88., , et al.
Efficacy of azacitidine compared with that of conventional care regimens in the treatment of higher-risk myelodysplastic syndromes: a randomised, open-label, phase III study. Lancet Oncol 2009;10:223–32., , et al.
A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia 2008;22:538–43., , et al.
Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol 2005;23(30):7594–603., , et al.
Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: Consensus statements and report from a working conference. Leuk Res 2007;31(6):727–36., , et al.
Idiopathic cytopenia of undetermined significance (ICUS) versus low risk MDS: the diagnostic interface. Leuk Res 2007;31(11):1461–8., , et al.
Comparison of bone marrow and hematologic findings in patients with human immunodeficiency virus infection and those with myelodysplastic syndromes and infectious diseases. Am J Clin Pathol 1994;101(2):123–9., , et al.
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Blood 2004;103(6):2019–26., , , .
Presence of peripheral blasts in refractory anemia and refractory cytopenia with multilineage dysplasia predicts an unfavourable outcome. Leuk Res 2008;32(1):33–7., , et al.
Diagnostic criteria to distinguish hypocellular acute myeloid leukemia from hypocellular myelodysplastic syndromes and aplastic anemia: recommendations for a standardized approach. Haematologica 2009;94(2):264–8., .
Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts. Haematologica 2008;93(11):1712–17., , et al.
Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of P53 mutations. Leukemia 1995;9(3):370–81., , et al.
Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. New Engl J Med 2002;347(7):481–7., , et al.
Prognostic implication and characterization of the blast cell population in the myelodysplastic syndrome. Leuk Res 1991;15(12):1159–65., , et al.
Morphological evaluation of monocytes and their precursors. Haematologica 2009;94(7):994–7., , et al.
Bone marrow cellularity in myeloid stem cell disorders: impact of age correction. Leuk Res 1994;18(8):559–64., , , .
European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica 2005;90(8):1128–32., , et al.
Clonality of the stem cell compartment during evolution of myelodysplastic syndromes and other bone marrow failure syndromes. Leukemia 2007;21(8):1648–57., , , .
Hypoplastic myelodysplastic syndromes can be distinguished from acquired aplastic anemia by CD34 and PCNA immunostaining of bone marrow biopsy specimens. Am J Clin Pathol 1997;107(3):268–74., , , , .
Flow cytometry evaluation of erythroid dysplasia in patients with myelodysplastic syndrome. Leukemia 2006;20(4):549–55., , et al.
Hypocellularity in myelodysplastic syndrome is an independent factor which predicts a favorable outcome. Leuk Res 2008;32(4):553–8., , et al.
Realistic pathologic classification of acute myeloid leukemias. Am J Clin Pathol 2001;115(4):552–60..
Clinical relevance of bone marrow fibrosis and CD34-positive cell clusters in primary myelodysplastic syndromes. J Clin Oncol 2009;27(5):754–62., , et al.
Bone marrow histology in myelodysplastic syndromes. II. Prognostic value of abnormal localization of immature precursors in MDS. Br J Haematol 1984;58(2):217–25., , , .
Prognostic evaluation of the microvascular network in myelodysplastic syndromes. Leukemia 2001;15(9):1369–76., , et al.
Vascular endothelial cell growth factor is an autocrine promoter of abnormal localized immature myeloid precursors and leukemia progenitor formation in myelodysplastic syndromes. Blood 2001;97(5):1427–34., , et al.
New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. Blood 2007;110(13):4385–95., , et al.
Optimal sequencing of treatments for patients with myelodysplastic syndromes. Curr Opin in Hematol 2009;16(2):77–83., .
Predictive factors of response and survival in myelodysplastic syndrome treated with erythropoietin and G-CSF: the GFM experience. Blood 2008;111(2):574–82., , et al.
Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica 2005;90(9):1168–78., , et al.
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 2008;451(7176):335–9., , et al.
The molecular signature of MDS stem cells supports a stem-cell origin of 5q myelodysplastic syndromes. Blood 2007;110(8):3005–14., , et al.
Simultaneous demonstration of clonal chromosome abnormalities and apoptosis in individual marrow cells in myelodysplastic syndrome. Int J Hematol 2004;80(2):140–5., , .
Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. New Engl J Med 2006;355(14):1456–65., , et al.
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature 1974;251(5474):437–8., , et al.
A critical role for phosphatase haplodeficiency in the selective suppression of deletion 5q MDS by lenalidomide. Proc Natl Acad Sci USA 2009;106(31):12974–9., , et al.
Narrowing and genomic annotation of the commonly deleted region of the 5q– syndrome. Blood 2002;99(12):4638–41., , et al.
Efficacy and safety of lenalidomide in intermediate-2-or high risk myelodysplastic syndromes (MDS) with 5q deletion: Results of a phase II study. Blood 2009;113(17):3947–52., , et al.
Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31. Blood 2000;95(7):2372–7., , et al.
Clinical significance of Y chromosome loss in hematologic disease. Genes Chromosomes Cancer 2000;27(1):11–16., , et al.
Trisomy of chromosome 8 in myelodysplastic syndrome. Significance of the fluctuating trisomy 8 population. Cancer Genet Cytogenet 1992;62(1):70–4., , et al.
Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype. J Clin Oncol 2008;26(29):4791–7., , et al.
EVI1 and hematopoietic disorders: history and perspectives. Gene 2006;368:1–11., , .
Myelomastocytic overlap syndromes: biology, criteria, and relationship to mastocytosis. Leuk Res 2001;25(7):595–602., , et al.
The role of JAK2 mutations in RARS and other MDS. Hematology Am Soc Hematol Educ Program 2008;2008:52–9., .
A multicenter phase 2 study of the farnesyltransferase inhibitor tipifarnib in intermediate- to high-risk myelodysplastic syndrome. Blood 2007;109(10):4158–63., , et al.
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol 2009;145(6):788–800., , et al.
Arsenic trioxide in patients with myelodysplastic syndromes: a phase II multicenter study. J Clin Oncol 2006;24(16):2465–71., , et al.
WT1 as a universal marker for minimal residual disease detection and quantification in myeloid leukemias and in myelodysplastic syndrome. Acta Haematol 2004;112(1–2):79–84., .
Prevalence and clinical association of clonal T-cell expansions in myelodysplastic syndrome. Leukemia 2007;21(4):659–67., , et al.
Preferential suppression of trisomy 8 compared with normal hematopoietic cell growth by autologous lymphocytes in patients with trisomy 8 myelodysplastic syndrome. Blood 2005;106(3):841–51., , et al.
Loss of T-lymphocyte clonal dominance in patients with myelodysplastic syndrome responsive to immunosuppression. Blood 2002;100(10):3639–45., , , , .
Distinctive gene expression profiles of CD34 cells from patients with myelodysplastic syndrome characterized by specific chromosomal abnormalities. Blood 2004;104(13):4210–18., , et al.
Microarray-based classifiers and prognosis models identify subgroups with distinct clinical outcomes and high risk of AML transformation of myelodysplastic syndrome. Blood 2009;114(5):1063–72., , et al.
An erythroid differentiation signature predicts response to lenalidomide in myelodysplastic syndrome. PLoS Med 2008;5(2):e35., , et al.
Cytogenetic clonality analysis in myelodysplastic syndrome: monosomy 7 can be demonstrated in the myeloid and in the lymphoid lineage. Leukemia 1995;9(11):1818–21., , et al.
Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 2008;111(3):1534–42., , et al.
Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes. Blood 2007;110(9):3365–73., , et al.
Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature 2009;460:904–8., , et al.
TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDS). Blood 2009;114(15):3285–91., , et al.
Methylation of the p15(INK4b) gene in myelodysplastic syndromes is frequent and acquired during disease progression. Blood 1998;91(8):2985–90., , et al.
Aberrant DNA methylation is a dominant mechanism in MDS progression to AML. Blood 2009;113(6):1315–25., , et al.
MDS and secondary AML display unique patterns and abundance of aberrant DNA methylation. Blood 2009;114(16):3448–58., , et al.
Standardization of flow cytometry in myelodysplastic syndromes: report from the first European LeukemiaNet working conference on flow cytometry in myelodysplastic syndromes. Haematologica 2009;94(8):1124–34., , et al.
Immunophenotypic clustering of myelodysplastic syndromes. Blood 2002;100(7):2349–56., , et al.
Identification of distinct prognostic subgroups in low- and intermediate-1-risk myelodysplastic syndromes by flow cytometry. Blood 2008;111(3):1067–77., , et al.
Diagnostic application of flow cytometric characteristics of CD34+ cells in low-grade myelodysplastic syndromes. Blood 2006;108(3):1037–44., , et al.
Immunophenotype in chronic myelomonocytic leukemia: is it closer to myelodysplastic syndromes or to myeloproliferative disorders?Transl Res 2008;151(5):240–5., , et al.
Myeloid and monocytic dyspoiesis as determined by flow cytometric scoring in myelodysplastic syndrome correlates with the IPSS and with outcome after hematopoietic stem cell transplantation. Blood 2003;102(1):394–403., , et al.
Validation of a flow cytometric scoring system as a prognostic indicator for posttransplantation outcome in patients with myelodysplastic syndrome. Blood 2008;112(7):2681–6., , et al.
Quantitative dynamics of flow cytometric aberrancies during treatment with erythropoietin/G-CSF are predictive for responses in LOW/INT-I risk myelodysplastic syndromes. Blood 2008;112:5867 [Abstr]., , , , .
Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome. Blood 2002;100(12):3897–902., , , , .
Expression of the multidrug resistance-associated protein in myelodysplastic syndromes. Br J Haematol 2000;110(3):591–8., , et al.
CD4+CD25high Foxp3+ regulatory T cells in myelodysplastic syndrome (MDS). Blood 2007;110(3):847–50., , et al.
Evidence for reduced B-cell progenitors in early (low-risk) myelodysplastic syndrome. Blood 2005;106(9):2982–91., , et al.
Frequent elevation of Akt kinase phosphorylation in blood marrow and peripheral blood mononuclear cells from high-risk myelodysplastic syndrome patients. Leukemia 2006;20(2):230–8., , et al.
Refinement of the International Prognostic Scoring System (IPSS) by including LDH as an additional prognostic variable to improve risk assessment in patients with primary myelodysplastic syndromes (MDS). Leukemia 2005;19(12):2223–31., , et al.
Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates. Cancer Cell 2008;14(4):335–43., , et al.
Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005;106(12):3699–709., , et al.
Effect of the complement inhibitor eculizumab on thromboembolism in patients with paroxysmal nocturnal hemoglobinuria. Blood 2007;110(12):4123–8., , et al.
The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood 1996;87(12):5332–40., .
Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. New Engl J Med 1990;323(17):1184–9., , et al.
Primary prophylaxis with warfarin prevents thrombosis in paroxysmal nocturnal hemoglobinuria (PNH). Blood 2003;102(10):3587–91., , .
Minor population of CD55-CD59- blood cells predicts response to immunosuppressive therapy and prognosis in patients with aplastic anemia. Blood 2006;107(4):1308–14., , et al.
Factors affecting response and survival in patients with myelodysplasia treated with immunosuppressive therapy. J Clin Oncol 2008;26(15):2505–11., , , , .
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edn. Lyon: IARC Press; 2008., , et al. (eds.).