Diagnosing myelodysplastic/myeloproliferative neoplasms: laboratory testing strategies to exclude other disorders

Int J Lab Hematol. 2010 Dec;32(6 Pt 2):559-71. doi: 10.1111/j.1751-553X.2010.01251.x.


Introduction: The 2008 World Health Organization classification of myeloid neoplasms includes the diagnostic category, myelodysplastic/myeloproliferative neoplasms (MDS/MPN), which encompasses those rare clonal myeloid proliferations that at initial presentation, show overlapping myeloproliferative and myelodysplastic features, making classification as either a myelodysplastic syndrome (MDS) or myeloproliferative neoplasm (MPN) problematic. There are four main subcategories, chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia, BCR-ABL1-negative (aCML), juvenile myelomonocytic leukemia (JMML), and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U), which also includes the provisional entity, refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T). Notably, the morphological features typical of MDS/MPNs are not specific and can be seen in other myeloid neoplasms at presentation or as part of disease progression or transformation.

Methods and results: This review presents a laboratory approach to diagnosing MDS/MPNs in adults that allows for the exclusion of other disorders that may be otherwise indistinguishable. Ancillary studies including cytochemistry, immunohistochemistry, flow cytometry, and genetic testing are discussed.

Conclusion: The most appropriate classification of myeloid neoplasms presenting with hybrid myelodysplastic/myeloproliferative features requires a comprehensive clinical and laboratory assessment with careful integration of the morphological, immunophenotypic, genetic, and clinical characteristics.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anemia, Refractory, with Excess of Blasts / diagnosis
  • Bone Marrow / pathology
  • Diagnosis, Differential
  • Erythrocytes / pathology
  • Female
  • Flow Cytometry
  • Granulocytes / pathology
  • Humans
  • Immunohistochemistry
  • Leukemia, Myeloid / diagnosis
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / diagnosis
  • Leukemia, Myelomonocytic, Chronic / diagnosis
  • Leukemia, Myelomonocytic, Juvenile / diagnosis
  • Male
  • Megakaryocytes / pathology
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics
  • Neutrophils / pathology
  • Proto-Oncogene Proteins c-abl / analysis
  • Proto-Oncogene Proteins c-bcr / analysis
  • Thrombocytosis / diagnosis


  • Proto-Oncogene Proteins c-abl
  • Proto-Oncogene Proteins c-bcr