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Overview of the myeloproliferative neoplasms

Ayalew Tefferi, MD
Section Editor
Stanley L Schrier, MD
Deputy Editor
Alan G Rosmarin, MD


An overview of the four classic myeloproliferative neoplasms (MPNs): polycythemia vera, essential thrombocythemia, primary myelofibrosis, and chronic myeloid leukemia will be presented here. Detailed information on each of these disorders is presented separately. (See "Clinical manifestations and diagnosis of polycythemia vera" and "Diagnosis and clinical manifestations of essential thrombocythemia" and "Clinical manifestations and diagnosis of primary myelofibrosis" and "Clinical manifestations and diagnosis of chronic myeloid leukemia".)


The hematopoietic pluripotent stem cell is capable of both self-renewal and stepwise differentiation into either the lymphoid or myeloid lineage (which appears to be determined stochastically) [1]. Thus, during normal hematopoiesis, there exists a cellular hierarchy headed by a stable population of pluripotent stem cells that generate lineage-specific progenitors, which differentiate into the various types of mature blood cells [2]. Effective hematopoiesis is facilitated by interactions of hematopoietic growth factors, various receptors, and the bone marrow microenvironment.

An operational classification of hematologic malignancies distinguishes lymphoid from myeloid neoplasms (table 1 and table 2); in turn, each of these categories is classified as either acute or chronic, depending upon the proportion of morphologically and immunophenotypically immature precursors (blasts) in the bone marrow or peripheral blood. Thus, the myeloid hematologic malignancies are divided into acute myeloid leukemia (AML; bone marrow or peripheral blood blasts of 20 percent or more) and the chronic myeloid disorders (bone marrow or peripheral blood blasts less than 20 percent). However, in the presence of certain recurrent cytogenetic abnormalities (eg, t(8;21), inv(16)), a diagnosis of AML is made regardless of the blast count.

The chronic myeloid disorders — The chronic myeloid disorders encompass several clinicopathologic entities. Conceptually, they can be organized into those that display significant morphologic dysplasia in the erythroid and/or granulocyte lineages (the myelodysplastic syndromes and the myelodysplastic/myeloproliferative overlap neoplasms) or those that do not display dysplastic changes (myeloproliferative neoplasms) [3,4]:

Myelodysplastic syndromes (MDS) are characterized by cellular dysplasia, variable degrees of peripheral blood cytopenias, and bone marrow hyperplasia (or less often, hypoplasia) [5]. The paradox of proliferative bone marrow together with peripheral blood cytopenias in MDS may be explained by increased intramedullary myeloid precursor cell apoptosis [6].


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