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Myeloproliferative Neoplasms (MPN)

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Primary Author(s)*

Mark Evans, MD, University of California, Irvine

Fabiola Quintero-Rivera, MD, University of California, Irvine

Graphical Data Links

MDS, MDS/MPN and MPN Tables - A comprehensive list of copy number alterations and CN-LOH detectable by CMA testing with strong diagnostic, prognostic and treatment implications in MDS, MDS/MPN and MPN. Tables derived from Kanagal-Shawanna et al., 2018 [PMID 30377088] with permission from Cancer Genetics. See MDS, MDS/MPN and MPN Tables: Recurrent Genomic Alterations Detected by Chromosomal Microarray.

Gene mutations in myeloproliferative neoplasms - Table derived from Tefferi et al., 2015[1] pending permission from the American Medical Association.

General Disease Overview / Description of Cancer Category

Formerly myeloproliferative disorders, myeloproliferative neoplasms (MPNs) are described in the revised 4th edition of the WHO[2] and include the categories: Chronic myeloid leukemia (CML), BCR-ABL1-positive, Chronic neutrophilic leukemia (CNL), Polycythemia vera (PV), Primary myelofibrosis (PMF), Essential thrombocythemia (ET), Chronic eosinophilic leukemia, not otherwise specified (CEL, NOS), and MPN, unclassifiable. Links to these categories are listed below in the "WHO Classification Pages" section.

MPNs arise from clonal, multipotential hematopoietic stem cells; they typically present with a chronic elevation of at least one cell type within the peripheral blood, with a hypercellular bone marrow and no evidence of ineffective hematopoiesis. MPNs variably progress to acute leukemia or bone marrow failure and generally do not transform between one another[3]. Diagnostically, they demonstrate characteristic features that may only manifest later in the disease course. Distinguishing between the early forms therefore may be difficult.

The molecular pathogenesis of MPNs was first described for CML, which results from dysregulation of the ABL1 tyrosine kinase (TK) pathway. Impaired TK signaling has been implicated in the other disorders, particularly involving mutations in JAK2 that are present in 50 to 95% of cases[4]. Changes in CALR and MPL are also frequently observed in cases of PMF and ET. CNL remains a relatively rare diagnosis with mutations of CSF3R, and CEL, NOS is a diagnosis of exclusion that does not harbor rearrangements of PDGFRA, PDGRFB, FGFR1 or the PCM1-JAK2 intergenic fusion[1].

Recent advancements in next-generation sequencing has revealed additional genetic alterations not specific to or limited to MPNs. These

mutations influence epigenetic processes (TET2, ASXL1, EZH2, IDH1, IDH2, DNMT3A), RNA editing (SF3B1, SRSF2, SETBP1, SF3B1), or transcriptional functioning (TP53, IKZF1, NFE2, CUX1)[5]. Multiple genes can be affected in a single cell clone with a frequency that varies with type of MPN and stage of the disease. Comprehensive analysis of morphology, cytogenetics, and molecular testing results is essential to understanding the pathogenicity of MPNs.

WHO Classification Pages (Includes Links to Content)

Other Related Pages (Includes Links to Content)

Additional Information

t(9;22)(q34;q11) BCR/ABL1 in Atlas of Genetics and Cytogenetics in Oncology and Haematology


  1. 1.0 1.1 A, Tefferi; et al. (2015). "Myeloproliferative Neoplasms: A Contemporary Review". PMID 26182311.
  2. Vardiman JW, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p30-59.
  3. Gerds AT, et al., (2019). Myeloproliferative Neoplasms, in NCCN Clinical Practice Guidelines in Oncology, Version 3.2019. National Comprehensive Cancer Network: Bethesda, Maryland, p1-96.
  4. Thakral B, et al., (2018). Myeloproliferative and “overlap” myelodysplastic/myeloproliferative neoplasms, in Hematopathology, 3rd edition. Hsi, ED, Editor. Elsevier Press: Philadelphia, Pennsylvania, p.488-489.
  5. Vardiman JW, et al., (2017). Myeloproliferative neoplasms, in Hematopathology, 2nd edition. Jaffe ES, Arber DA, Campo E, Harris NL, and Quintanilla-Martinez L, Editors. Elsevier Press: Philadelphia, Pennsylvania, p.847-852.


*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

*The hierarchical tumour classification structure displayed on this page is reproduced from the WHO Classification of Tumours with permission from the copyright holder, ©International Agency for Research on Cancer.