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Myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPN, U): natural history and clinical outcome by treatment strategy

Leukemia volume 28, pages 958–961 (2014)Cite this article

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Created in 2001 and retained in 2008, the World Health Organization (WHO) now recognizes a distinct category of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) for those patients diagnosed with clinical, morphologic and laboratory features that overlap with those of both MDS and MPN.1 Four hematopathologic diagnoses exist within this category: chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia BCR-ABL1 negative (aCML), juvenile myelomonocytic leukemia (JMML) and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U).

Of the four ‘overlap’ MDS/MPN syndromes, MDS/MPN-U is the least well characterized.2 It encompasses patients with features of both MDS and MPN at presentation that do not satisfy criteria for CMML, JMML or aCML. MDS/MPN-U is formally defined as patients with no preceding history of MDS or MPN, no recent cytotoxic growth factor therapy, no Philadelphia chromosome, BCR-ABL1 fusion gene, PDGFRA, PDGFRB or isolated del(5q), t(3;3)(q21;q26) or inv(3)(q21q26), and with dysplastic features in ⩾1 hematopoietic cell line, <20% blasts in the blood and bone marrow, prominent myeloproliferative features (that is, platelet count ⩾450 × 109/l or white blood cell count ⩾13 × 109/l, with or without splenomegaly), or de novo disease with mixed myeloproliferative and myelodysplastic features that cannot be assigned to any other category of MDS, MPN or of MPS/MPN (Supplementary Table 1).3 Although there are no identifying cytogenetic or molecular features of MDS/MPN-U, recurrent mutations are found within this category and notably include JAK2-V617F in approximately 25% of patients. In addition, JAK2-V617F mutations are present in up to 60% of MDS/MPN-U patients with refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T), a pathologic diagnosis currently residing as a provisional entity within the MDS/MPN-U category.4, 5

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Authors and Affiliations

  1. Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    C D DiNardo, N Daver, N Jain, N Pemmaraju, S Pierce, E Jabbour, J E Cortes, H M Kantarjian, G Garcia-Manero & S Verstovsek

  2. Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    C Bueso-Ramos & C C Yin

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  1. C D DiNardo
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Correspondence to C D DiNardo.

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DiNardo, C., Daver, N., Jain, N. et al. Myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPN, U): natural history and clinical outcome by treatment strategy. Leukemia 28, 958–961 (2014). https://doi.org/10.1038/leu.2014.8

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