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Myelodysplastic/Myeloproliferative Neoplasms

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Myelodysplastic Syndromes

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

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Abstract

Myeloid malignancies exemplified by acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPNs) are all characterized by abnormal proliferation of stem cells. AML is characterized by proliferation of myeloid blasts that ultimately perturb normal bone marrow (BM) function and suppress hematopoiesis. The hallmarks of MDS are cytopenias (anemia, leukopenia, or thrombocytopenia), impaired differentiation in one or more of myeloid cell lines, and ineffective hematopoiesis (Tiu et al. 2011a). MPNs manifest with proliferation of one or more cell lines in the BM with accompanying BM fibrosis and extramedullary hematopoiesis (Fig. 1). When features of both MDS and MPN coexist in the same patient, the disease is called MDS/MPN overlap neoplasms. The recognition that some MDS patients have overlapping MPN features led to the coining of the term MDS/MPN overlap. This group was first described in 1997 at the clinical advisory meeting of the World Health Organization (WHO) (Harris et al. 1999) and later adapted in the 2001 WHO classification (Harris et al. 2001). As in the case of MDS and MPNs, MDS/MPN patients are also at risk for AML evolution. Within this overlapping class, four different disease entities were classified: Juvenile myelomonocytic leukemia (JMML), chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (BCR-ABL1 negative) (aCML), and MDS/MPN-unclassifiable (MDS/MPN-U), which also included the provisional disease category, refractory anemia with ring sideroblast associated with marked thrombocytosis (RARS-T). Of note, each of these disease entities has a defined natural history, influenced by a variety of factors such as BM blast counts, presence of concomitant diseases (e.g., systemic mastocytosis with associated clonal hematologic non-mast cell lineage disease [SM-AHNMD]), and different cytogenetic and epigenetic/molecular profile which may explain the clinicopathologic diversity of these diseases.

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Authors and Affiliations

  1. Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, 9500 Euclid Avenue R40, Cleveland, OH, 44195, USA

    Manojkumar Bupathi, Ramon V. Tiu & Jaroslaw P. Maciejewski MD, PhD

  2. Department of Hematologic Oncology and Blood Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA

    Ramon V. Tiu & Jaroslaw P. Maciejewski MD, PhD

  3. Experimental Hematology and Hematopoiesis Section, Taussig Cancer Center/R40, 9500 Euclid Ave., Cleveland, OH, 44195, USA

    Jaroslaw P. Maciejewski MD, PhD

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  1. Manojkumar Bupathi
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  2. Ramon V. Tiu
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  3. Jaroslaw P. Maciejewski MD, PhD
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Correspondence to Jaroslaw P. Maciejewski MD, PhD .

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Bupathi, M., Tiu, R.V., Maciejewski, J.P. (2013). Myelodysplastic/Myeloproliferative Neoplasms. In: Myelodysplastic Syndromes. Hematologic Malignancies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-36229-3_7

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