Skip to main content

Classification and Staging of Myelodysplastic Syndromes

  • Chapter
  • First Online:
Myelodysplastic Syndromes

Part of the book series: Hematologic Malignancies ((HEMATOLOGIC))

  • 1249 Accesses

Abstract

Myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal hematologic disorders. MDS is characterized by ineffective hematopoiesis, showing dysplastic features in at least one hematopoietic lineage in the bone marrow. Considering the introduction of more differentiated therapeutic options, e.g., due to demethylating agents, lenalidomide, or allogeneic stem cell transplantation for high-risk cases, valid and easily reproducible classification systems became of major importance in the care of patients with MDS. With the use of standard classification systems, e.g., formerly the French-American-British (FAB) classification (Bennett et al. 1982), the International Prognostic Scoring System (IPSS) (Greenberg et al. 1997) or the IPSS-R (Greenberg et al., 2012) the WPSS (Malcovati et al. 2007), or the new World Health Organization (WHO) proposal (Brunning et al. 2008), staging and classification of MDS are readily achieved. The IPSS or IPSS-R, respectively, is often combined with FAB or WHO morphological criteria to provide the most complete clinical picture and the most accurate prognostic assessment possible (Bennett 2005).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Arber B, Brunning R, Le Beau MM, Falini B (2008) Acute myeloid leukemia with recurrent genetic abnormalities. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW (eds) WHO classification of tumours of haematopoietic and lymphoid tissues, 4th edn. IARC Press, Lyon, pp 110–123

    Google Scholar 

  • Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, Kantarjian H, Raza A, Levine RL, Neuberg D, Ebert BL (2011) Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 364:2496–2506

    Article  PubMed  CAS  Google Scholar 

  • Bennett JM (2005) A comparative review of classification systems in myelodysplastic syndromes (MDS). Semin Oncol 32:S3–S10

    Article  PubMed  Google Scholar 

  • Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C (1982) Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 51:189–199

    PubMed  CAS  Google Scholar 

  • Brunning R, Orazi A, Germing U, Le Beau MM, Porwit A, Baumann I, Vardiman JW, Hellström-Lindberg E (2008) Myelodysplastic syndromes/neoplasms, overview. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW (eds) WHO classification of tumours of haematopoietic and lymphoid tissues, 4th edn. IARC Press, Lyon, pp 87–93

    Google Scholar 

  • Cermak J, Michalova K, Brezinova J, Zemanova Z (2003) A prognostic impact of separation of refractory cytopenia with multilineage dysplasia and 5q− syndrome from refractory anemia in primary myelodysplastic syndrome. Leuk Res 27:221–229

    Article  PubMed  Google Scholar 

  • Cheson BD, Greenberg PL, Bennett JM, Lowenberg B, Wijermans PW, Nimer SD, Pinto A, Beran M, de Witte TM, Stone RM, Mittelman M, Sanz GF, Gore SD, Schiffer CA, Kantarjian H (2006) Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia. Blood 108:419–425

    Article  PubMed  CAS  Google Scholar 

  • Dicker F, Haferlach C, Sundermann J, Wendland N, Weiss T, Kern W, Haferlach T, Schnittger S (2010) Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML. Leukemia 24:1528–1532

    Article  PubMed  CAS  Google Scholar 

  • Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR (2008) Identification of RPS14 as a 5q− syndrome gene by RNA interference screen. Nature 451:335–339

    Article  PubMed  CAS  Google Scholar 

  • Germing U, Gattermann N, Strupp C, Aivado M, Aul C (2000) Validation of the WHO proposals for a new classification of primary myelodysplastic syndromes: a retrospective analysis of 1,600 patients. Leuk Res 24:983–992

    Article  PubMed  CAS  Google Scholar 

  • Goasguen JE, Matsuo T, Cox C, Bennett JM (1992) Evaluation of the dysmyelopoiesis in 336 patients with de novo acute myeloid leukemia: major importance of dysgranulopoiesis for remission and survival. Leukemia 6:520–525

    PubMed  CAS  Google Scholar 

  • Greenberg P, Cox C, Le Beau MM, Fenaux P, Morel P, Sanz G, Sanz M, Vallespi T, Hamblin T, Oscier D, Ohyashiki K, Toyama K, Aul C, Mufti G, Bennett J (1997) International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 89:2079–2088

    PubMed  CAS  Google Scholar 

  • Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, Bennett JM, Bowen D, Fenaux P, Dreyfus F, Kantarjian H, Kuendgen A, Levis A, Malcovati L, Cazzola M, Cermak J, Fonatsch C, Le Beau MM, Slovak ML, Krieger O, Luebbert M, Maciejewski J, Magalhaes SM, Miyazaki Y, Pfeilstöcker M, Sekeres M, Sperr WR, Stauder R, Tauro S, Valent P, Vallespi T, van de Loosdrecht AA, Germing U, Haase D (2012) Revised international prognostic scoring system for myelodysplastic syndromes. Blood 120:2454–2465

    PubMed  CAS  Google Scholar 

  • Grossmann V, Kohlmann A, Eder C, Haferlach C, Kern W, Cross NC, Haferlach T, Schnittger S (2011) Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80 % of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia 25:877–879

    Article  PubMed  CAS  Google Scholar 

  • Haase D (2008) Cytogenetic features in myelodysplastic syndromes. Ann Hematol 87:515–526

    Article  PubMed  Google Scholar 

  • Haase D, Germing U, Schanz J, Pfeilstöcker M, Nösslinger T, Hildebrandt B, Kundgen A, Lübbert M, Kunzmann R, Giagounidis AA, Aul C, Trümper L, Krieger O, Stauder R, Müller TH, Wimazal F, Valent P, Fonatsch C, Steidl C (2007) New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2,124 patients. Blood 110:4385–4395

    Article  PubMed  CAS  Google Scholar 

  • Haferlach C, Rieder H, Lillington DM, Dastugue N, Hagemeijer A, Harbott J, Stilgenbauer S, Knuutila S, Johansson B, Fonatsch C (2007) Proposals for standardized protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative ­disorders, and myelodysplastic syndromes. Genes Chromosomes Cancer 46:494–499

    Article  PubMed  CAS  Google Scholar 

  • Howe RB, Porwit-MacDonald A, Wanat R, Tehranchi R, Hellström-Lindberg E (2004) The WHO classification of MDS does make a difference. Blood 103:3265–3270

    Article  PubMed  CAS  Google Scholar 

  • Jaffe ES, Harris NL, Stein H, Vardiman JW (2001) Pathology and genetics of tumours of haematopoietic and lymphoid tissues, 3rd edn, World Health Organization classification of tumours. IARC Press, Lyon

    Google Scholar 

  • Kohlmann A, Grossmann V, Klein HU, Schindela S, Weiss T, Kazak B, Dicker F, Schnittger S, Dugas M, Kern W, Haferlach C, Haferlach T (2010) Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8 % of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol 28:3858–3865

    Article  PubMed  CAS  Google Scholar 

  • Löffler H, Raststetter J, Haferlach T (2010) Atlas of clinical hematology, 6th edn. Springer, Berlin

    Google Scholar 

  • Malcovati L, Germing U, Kuendgen A, la Porta MG, Pascutto C, Invernizzi R, Giagounidis A, Hildebrandt B, Bernasconi P, Knipp S, Strupp C, Lazzarino M, Aul C, Cazzola M (2007) Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. J Clin Oncol 25:3503–3510

    Article  PubMed  Google Scholar 

  • Meggendorfer M, Roller A, Haferlach T, Eder C, Dicker F, Grossmann V, Kohlmann A, Alpermann T, Yoshida K, Ogawa S, Koeffler HP, Kern W, Haferlach C, Schnittger S (2012) SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood 120:3080–3088

    Article  PubMed  Google Scholar 

  • Mufti G, Bennett J, Goasguen J, Bain B, Baumann I, Brunning R, Cazzola M, Fenaux P, Germing U, Hellström-Lindberg E, Jinnai I, Manabe A, Matsuda A, Niemeyer C, Sanz G, Tomonaga M, Vallespi T, Yoshimi A (2011) 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 93:1712–1717

    Article  Google Scholar 

  • Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagati A, Wainscoat J, Hellström-Lindberg E, Gambacorti-Passerini C, Godfrey A, Rapado I, Cvejic A, Rance R, McGee C, Ellis P, Mudie L, Stephens P, McLaren S, Massie C, Tarpey P, Varela I, Nik-Zainal S, Davies H, Shlien A, Jones D, Raine K, Hinton J, Butler A, Teague J, Baxter E, Score J, Galli A, Della-Porta M, Travaglino E, Groves M, Tauro S, Munshi N, Anderson K, El-Naggar A, Fischer A, Mustonen V, Warren A, Cross N, Green A, Futreal P, Stratton M, Campbell P, and the Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium (2011) Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 365:1384–1395

    Article  PubMed  CAS  Google Scholar 

  • Schanz J, Tüchler H, Solé F, Mallo M, Luño E, Cervera J, Granada I, Hildebrandt B, Slovak ML, Ohyashiki K, Steidl C, Fonatsch C, Pfeilstöcker M, Nösslinger T, Valent P, Giagounidis A, Aul C, Lübbert M, Stauder R, Krieger O, Garcia-Manero G, Faderl S, Pierce S, Le Beau MM, Bennett JM, Greenberg P, Germing U, Haase D (2012) New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. J Clin Oncol 30:820–829

    Article  PubMed  Google Scholar 

  • Shaffer LG, McGowan-Jordan J, Schmid M (2013). An International System for Human Cytogenetic Nomenclature (2013) Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. S. Karger, Basel.

    Google Scholar 

  • Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW (2008) WHO classification of tumours of haematopoietic and lymphoid tissues, 4th edn. IARC Press, Lyon

    Google Scholar 

  • Valent P, Bain BJ, Bennett JM, Wimazal F, Sperr WR, Mufti G, Horny HP (2012) Idiopathic cytopenia of undetermined significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), and their distinction from low risk MDS. Leuk Res 36:1–5

    PubMed  Google Scholar 

  • Van den Berghe H, Michaux L (1997) 5q−, twenty-five years later: a synopsis. Cancer Genet Cytogenet 94:1–7

    Article  PubMed  Google Scholar 

  • Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, Sato Y, Sato-Otsubo A, Kon A, Nagasaki M, Chalkidis G, Suzuki Y, Shiosaka M, Kawahata R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Ishiyama K, Mori H, Nolte F, Hofmann W, Miyawaki S, Sugano S, Haferlach C, Koeffler H, Shih L, Haferlach T, Chiba S, Nakauchi H, Miyano S, Ogawa S (2011) Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478:64–69

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Torsten Haferlach MD .

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Haferlach, T., Bacher, U. (2013). Classification and Staging of Myelodysplastic Syndromes. In: Myelodysplastic Syndromes. Hematologic Malignancies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-36229-3_8

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-36229-3_8

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-36228-6

  • Online ISBN: 978-3-642-36229-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics