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Myeloproliferative disorders are due to acquired clonal abnormalities of the hematopoietic stem cell (eFigure 13–19). Since the stem cell gives rise to myeloid, erythroid, and platelet cells, qualitative and quantitative changes are seen in all of these cell lines. Classically, the myeloproliferative disorders produce characteristic syndromes with well-defined clinical and laboratory features (Tables 13–13 and 13–14). However, these disorders are grouped together because they may evolve from one into another and because hybrid disorders are commonly seen. All of the myeloproliferative disorders may progress to AML.

eFigure 13–19.

Classification of leukemias according to cell type and lineage. (Reproduced with permission, from Chandrasoma P, Taylor CE. Concise Pathology, 3rd ed. Originally published by Appleton & Lange. Copyright © 1998 by The McGraw-Hill Companies, Inc.)

Table 13–13.World Health Organization classification of myeloproliferative disorders (modified).
Table 13–14.Laboratory features of myeloproliferative neoplasms.

The Philadelphia chromosome seen in chronic myeloid leukemia (CML) was the first recurrent cytogenetic abnormality to be described in a human malignancy. Since that time, there has been tremendous progress in elucidating the genetic nature of these disorders, with identification of mutations in JAK2, MPL, CALR, CSF3R, and other genes.

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