Chronic Myeloproliferative Diseases

WHO Classification of Chronic Myeloproliferative Diseases (2008) [MEDLINE]

Myeloproliferative Neoplasms

Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB, and FGFR1

Myelodysplastic Syndromes/Myleoproliferative Neoplasms

  • Chronic Myelomonocytic Leukemia
  • Juvenile Myelomonocytic Leukemia
  • Atypical Chronic Myeloid Leukemia (CML) (see Chronic Myeloid Leukemia, [[Chronic Myeloid Leukemia]]): BCR-ABL negative
  • Myelodysplastic Syndromes/Myeloproliferative Neoplasms, Unclassifiable

Myelodysplastic Syndromes (see Myelodysplastic Syndrome, [[Myelodysplastic Syndrome]])

Acute Myeloid Leukemia (AML) (see Acute Myeloid Leukemia, [[Acute Myeloid Leukemia]])


  • Pulmonary hypertension in patients with chronic myeloproliferative disorders. Eur Respir J. 2010 Jun;35(6):1396-406. doi: 10.1183/09031936.00175909 [MEDLINE]

  • Curr Hematol Malig Rep. 2008 Jan;3(1):37-43.
    Primary eosinophilic disorders: a concise review.
    Pardanani A, Tefferi A.
    Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA.
    Primary eosinophilic disorders include hypereosinophilic syndrome (HES); chronic eosinophilic leukemia, not otherwise categorized (CEL-NOC); platelet-derived growth factor receptor (PDGFR)-rearranged myeloid neoplasms; and other myeloid malignancies associated with prominent blood eosinophilia. According to the World Health Organization consensus criteria, the diagnosis of HES requires the absence of clonal cytogenetic or molecular markers of an underlying myeloid or lymphoid neoplasm. CEL-NOC constitutes an HES-like phenotype associated with an abnormal karyotype or excess blasts in blood (> 2%) or bone marrow (> 5%). HES and CEL-NOC are considered distinct from molecularly defined eosinophilic disorders, such as those associated with activating mutations of PDGFR (PDGFRA and PDGFRB) and fibroblast growth factor receptor-1. This is an important distinction because PDGFR-mutated but not other eosinophilic neoplasms are effectively treated with imatinib. Current management in HES includes observation only for asymptomatic patients with no evidence of organ damage, systemic corticosteroid therapy for acute control of symptoms, and interferon-alfa-2a or hydroxyurea as steroid-sparing agents. In patients with HES who are refractory to usual therapy and have life-threatening disease complications, the use of investigational drugs such as alemtuzumab or mepolizumab might be considered, but data on long-term efficacy and safety are limited.

  • Cancer J. 2007 Nov-Dec;13(6):384-91.
    Hypereosinophilic syndrome, chronic eosinophilic leukemia, and mast cell disease.
    Pardanani A, Verstovsek S.
    Mayo Clinic, Rochester, MN 55905, USA.
    Hypereosinophilic syndrome (HES), chronic eosinophilic leukemia (CEL), and mast cell disease (MCD) are all considered myeloproliferative neoplasms, and diagnosis in each instance requires bone marrow examination with cytogenetic and molecular studies. HES should be distinguished from both molecularly defined and otherwise uncategorized CEL. The genes that are mutated in molecularly defined CEL include those that encode for platelet-derived growth factor receptors A and B and for fibroblast growth factor receptor 1. Diagnosis of MCD is facilitated by tryptase immunostaining and immunophenotyping to detect abnormal CD25-positive mast cells. Mutation screening for KITD816V is also advised but is not essential for the diagnosis of MCD. Asymptomatic patients with HES and no evidence of organ damage do not necessarily require immediate therapy. The same is true for patients with indolent MCD. At present, effective cytoreductive drugs for HES include corticosteroids, interferon-alpha (IFN-alpha), and hydroxyurea, imatinib for platelet-derived growth factor receptor A or B-rearranged CEL imatinib, and for MCD IFN-alpha and cladribine. In addition, a number of new drugs are currently being tested for their safety and efficacy in all 3 disorders.