Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN)

  • Julia T GeyerEmail author
  • Attilio Orazi
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_4774-1



The myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal myeloid neoplasms characterized at the time of their initial presentation by the simultaneous presence of myelodysplastic and myeloproliferative features, which prevent them from being classified as either myelodysplastic syndrome (MDS) or myeloproliferative neoplasm (MPN). The most common entities within the MDS/MPN group include chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia, BCR-ABL1negative (aCML), and juvenile myelomonocytic leukemia (JMML). A less well-defined group of MDS/MPN-like diseases include MDS/MPN unclassifiable (MDS/MPN-U) and a...

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References and Further Reading

  1. Bacher, U., Haferlach, T., Schnittger, S., et al. (2011). Recent advances in diagnosis, molecular pathology and therapy of chronic myelomonocytic leukaemia. British Journal of Haematology, 153, 149–167.CrossRefPubMedGoogle Scholar
  2. Itzykson, R., Kosmider, O., Renneville, A., et al. (2013). Prognostic score including gene mutations in chronic myelomonocytic leukemia. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 31, 2428–2436.CrossRefGoogle Scholar
  3. Kohlmann, A., Grossmann, V., Klein, H. U., et al. (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. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 28, 3858–3865.CrossRefGoogle Scholar
  4. Kosmider, O., Gelsi-Boyer, V., Ciudad, M., et al. (2009). TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia. Haematologica, 94, 1676–1681.CrossRefPubMedPubMedCentralGoogle Scholar
  5. Orazi, A., Bennett, J. M., Germing, U., Brunning, R. D., Bain, B. J., Cazzola, M., Foucar, K., Thiele, J., Baumann, I., Niemeyer, C. M., Hasserhian, R. P., & Malcovati, L. (2017). Myelodysplastic/myeloproliferative neoplasms. Lyon: IARC.Google Scholar
  6. Ricci, C., Fermo, E., Corti, S., et al. (2010). RAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant. Clinical Cancer Research, 16, 2246–2256.CrossRefPubMedGoogle Scholar
  7. Wang, S. A., Hasserjian, R. P., Fox, P. S., et al. (2014). Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms. Blood, 123, 2645–2651.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Pathology and Laboratory MedicineWeill Cornell Medical CollegeNew YorkUSA