Overview Ph+ ALL MDS/MPD HES/CEL DFSP

MYELODYSPLASTIC/MYELOPROLIFERATIVE DISEASES (MDS/MPD)—RARE DISEASES OF THE BLOOD AND BONE MARROW

MDS/MPD are clonal myeloid disorders (ie, where the bone marrow includes a population of cells ultimately derived from a single abnormal cell) that have both dysplastic and proliferative features.1,2

The pathophysiology involves abnormalities in the regulation of myeloid pathways for cellular proliferation, maturation, and survival.1

There are 3 main MDS/MPD diseases3

  • Chronic myelomonocytic leukemia (CMML)
  • Atypical chronic myeloid leukemia (aCML)
  • Juvenile myelomonocytic leukemia (JMML)

Each of these disorders is very rare but can be life-threatening.1,2

Clinical presentation and diagnosis

Disease manifestations are due to cytopenias and can include4:

  • Fatigue
  • Pallor
  • Exertional dyspnea
  • Infections
  • Easy bruising
  • Bleeding

Diagnostic tests may include blood cell counts using blood and bone marrow. Cytogenetic testing may also be performed.3

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