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.
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). ||Download (.pdf) Table 13–13. World Health Organization classification of myeloproliferative disorders (modified).
Chronic myeloid leukemia, BCR-ABL1–positive
Chronic neutrophilic leukemia
Primary myelofibrosis (PMF)
Chronic eosinophilic leukemia, not otherwise specified (NOS)
Myeloproliferative neoplasm, unclassifiable
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN)
Acute myeloid leukemia and related neoplasms
Acute myeloid leukemia with recurrent genetic abnormalities
Acute myeloid leukemia with myelodysplasia-related changes
Therapy-related myeloid neoplasms
Acute myeloid leukemia, NOS
Myeloid proliferations related to Down syndrome
Acute leukemias of ambiguous lineage
B lymphoblastic leukemia/lymphoma
T lymphoblastic leukemia/lymphoma
Table 13–14.Laboratory features of myeloproliferative neoplasms. ||Download (.pdf) Table 13–14. Laboratory features of myeloproliferative neoplasms.
| ||White Count ||Hematocrit ||Platelet Count ||Red Cell Morphology |
|Polycythemia vera ||N or ↑ ||↑↑ ||N or ↑ ||N |
|Essential thrombocytosis ||N or ↑ ||N ||↑↑ ||N |
|Primary myelofibrosis ||N or ↓ or ↑ ||↓ ||↓ or N or ↑ ||Abn |
|Chronic myeloid leukemia ||↑↑ ||N or ↓ ||N or ↑ or ↓ ||N |
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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et al. Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms. Blood. 2017 Feb 9;129(6):680–92.
et al. Myeloproliferative and lymphoproliferative disorders: state of the art. Hematol Oncol. 2020 Apr;38(2):121–8. [Epub ahead of print]