• 1
    Valent P, Horny HP, Bennett JM, 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: 727-736.
  • 2
    Aul C, Gattermann N, Heyll A, et al. Primary myelodysplastic syndromes: analysis of prognostic factors in 235 patients and proposals for an improved scoring system. Leukemia. 1992; 6: 52-59.
  • 3
    Mufti GJ. Pathobiology, classification, and diagnosis of myelodysplastic syndrome. Best Pract Res Clin Haematol. 2004; 17: 543-557.
  • 4
    Sanz GF, Sanz MA, Vallespi T, et al. Two regression models and a scoring system for predicting survival and planning treatment in myelodysplastic syndromes: a multivariate analysis of prognostic factors in 370 patients. Blood. 1989; 74: 395-408.
  • 5
    Jaffe ES, Harris NL, Stein H, Vardiman JW. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2008.
  • 6
    Bennett JM, Catovsky D, Daniel MT, et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol. 1982; 51: 189-199.
  • 7
    Bennett JM, Komrokji RS. The myelodysplastic syndromes: diagnosis, molecular biology and risk assessment. Hematology. 2005; 10( suppl 1): 258-269.
  • 8
    Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997; 89: 2079-2088.
  • 9
    Malcovati L, Porta MG, Pascutto C, 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: 7594-7603.
  • 10
    Mufti GJ, Bennett JM, Goasguen J, et al. 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: 1712-1717.
  • 11
    Goasguen JE, Bennett JM. Classification and morphologic features of the myelodysplastic syndromes. Semin Oncol. 1992; 19: 4-13.
  • 12
    Sole F, Luno E, Sanzo C, et al. Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica. 2005; 90: 1168-1178.
  • 13
    Haase D. Cytogenetic features in myelodysplastic syndromes. Ann Hematol. 2008; 87: 515-526.
  • 14
    Fenaux P. Chromosome and molecular abnormalities in myelodysplastic syndromes. Int J Hematol. 2001; 73: 429-437.
  • 15
    Sole F, Espinet B, Sanz GF, et al. Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Espanol de Citogenetica Hematologica. Br J Haematol. 2000; 108: 346-356.
  • 16
    Loken MR, van de LA, Ogata K, Orfao A, Wells DA. Flow cytometry in myelodysplastic syndromes: report from a working conference. Leuk Res. 2008; 32: 5-17.
  • 17
    Stetler-Stevenson M, Arthur DC, Jabbour N, et al. Diagnostic utility of flow cytometric immunophenotyping in myelodysplastic syndrome. Blood. 2001; 98: 979-987.
  • 18
    la Porta MG, Malcovati L, Invernizzi R, et al. Flow cytometry evaluation of erythroid dysplasia in patients with myelodysplastic syndrome. Leukemia. 2006; 20: 549-555.
  • 19
    van de Loosdrecht AA, Westers TM, Westra AH, et al. Identification of distinct prognostic subgroups in low- and intermediate-1-risk myelodysplastic syndromes by flow cytometry. Blood. 2008; 111: 1067-1077.
  • 20
    Wells DA, Benesch M, Loken MR, 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: 394-403.
  • 21
    Yanada M, Matsuo K, Suzuki T, Kiyoi H, Naoe T. Prognostic significance of FLT3 internal tandem duplication and tyrosine kinase domain mutations for acute myeloid leukemia: a meta-analysis. Leukemia. 2005; 19: 1345-1349.
  • 22
    Shih LY, Huang CF, Wang PN, et al. Acquisition of FLT3 or N-ras mutations is frequently associated with progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia. 2004; 18: 466-475.
  • 23
    Chen CY, Lin LI, Tang JL, et al. RUNX1 gene mutation in primary myelodysplastic syndrome—the mutation can be detected early at diagnosis or acquired during disease progression and is associated with poor outcome. Br J Haematol. 2007; 139: 405-414.
  • 24
    Christiansen DH, Andersen MK, Pedersen-Bjergaard J. Mutations of AML1 are common in therapy-related myelodysplasia after therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation. Blood. 2004; 104: 1474-1481.
  • 25
    Kern W, Voskova D, Schoch C, et al. Determination of relapse risk based on assessment of minimal residual disease during complete remission by multiparameter flow cytometry in unselected patients with acute myeloid leukemia. Blood. 2004; 104: 3078-3085.
  • 26
    Schoch C, Schnittger S, Bursch S, et al. Comparison of chromosome banding analysis, interphase- and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases. Leukemia. 2002; 16: 53-59.
  • 27
    Schnittger S, Bacher U, Kern W, et al. Report on 2 novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E. Leukemia. 2006; 20: 2195-2197.
  • 28
    Schnittger S, Schoch C, Dugas M, et al. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood. 2002; 100: 59-66.
  • 29
    Schnittger S, Kinkelin U, Schoch C, et al. Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML. Leukemia. 2000; 14: 796-804.
  • 30
    Bacher U, Haferlach T, Schoch C, Kern W, Schnittger S. Implications of NRAS mutations in AML: a study of 2502 patients. Blood. 2006; 107: 3847-3853.
  • 31
    Schnittger S, Schoch C, Kern W, et al. Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype. Blood. 2005; 106: 3733-3739.
  • 32
    Dicker F, Haferlach C, Kern W, Haferlach T, Schnittger S. Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. Blood. 2007; 110: 1308-1316.
  • 33
    Remacha AF, Nomdedeu JF, Puget G, et al. Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica. 2006; 91: 719-720.
  • 34
    Szpurka H, Tiu R, Murugesan G, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood. 2006; 108: 2173-2181.
  • 35
    Matarraz S, Lopez A, Barrena S, et al. The immunophenotype of different immature, myeloid and B-cell lineage-committed CD34+ hematopoietic cells allows discrimination between normal/reactive and myelodysplastic syndrome precursors. Leukemia. 2008; 22: 1175-1183.
  • 36
    Haase D, Germing U, Schanz J, 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: 4385-4395.
  • 37
    Padua RA, Guinn BA, Al-Sabah AI, et al. RAS, FMS and p53 mutations and poor clinical outcome in myelodysplasias: a 10-year follow-up. Leukemia. 1998; 12: 887-892.
  • 38
    Mitani K, Hangaishi A, Imamura N, et al. No concomitant occurrence of the N-ras and p53 gene mutations in myelodysplastic syndromes. Leukemia. 1997; 11: 863-865.
  • 39
    Bacher U, Haferlach T, Kern W, Haferlach C, Schnittger S. A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia. Haematologica. 2007; 92: 744-752.
  • 40
    Falini B, Mecucci C, Tiacci E, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005; 352: 254-266.
  • 41
    Zhang Y, Zhang M, Yang L, Xiao Z. NPM1 mutations in myelodysplastic syndromes and acute myeloid leukemia with normal karyotype. Leuk Res. 2007; 31: 109-111.
  • 42
    Ingram W, Lea NC, Cervera J, et al. The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow. Leukemia. 2006; 20: 1319-1321.
  • 43
    Ohyashiki K, Aota Y, Akahane D, et al. The JAK2 V617F tyrosine kinase mutation in myelodysplastic syndromes (MDS) developing myelofibrosis indicates the myeloproliferative nature in a subset of MDS patients. Leukemia. 2005; 19: 2359-2360.
  • 44
    Tallman MS. New agents for the treatment of acute myeloid leukemia. Best Pract Res Clin Haematol. 2006; 19: 311-320.
  • 45
    Illmer T, Ehninger G. FLT3 kinase inhibitors in the management of acute myeloid leukemia. Clin Lymphoma Myeloma 2007; 8( suppl 1): S24-S34.