15.1: Introduction to Myelodysplastic Syndromes (MDS)

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Myelodysplastic syndromes are a group of clonal disorders that result in cytopenias and defective cell maturation.¹ Morphology of cells during maturation show abnormalities, referred to as dysplasia.² Dysplastic features seen varies in terms of the types of dysplasia seen, and the cell lines affected. Progression toward acute leukemia is often seen later in the disease, leading to an increase in blasts seen in the bone marrow and peripheral blood.

Age Group Affected: Commonly age of diagnosis is 70 years old.¹

Affected Cell Line(s): Can affect one, two, or all three hematopoietic cell lines (erythroid, myeloid, megakaryocyte).¹

Cause(s):

Chromosomal abnormalities

Mutations in oncogenes and tumor suppressor genes

General Laboratory Findings for MDS:²

PBS:

Anemia

Anisocytosis (Dimorphic)

Poikilocytosis

Sideroblasts

Dysplastic granulocytes

Dysplastic thrombocytes

+/- Increased blasts

BM:

Dysplastic hematopoietic precursors

Usually hypercellular (though hematopoiesis is ineffective)

+/- Increased blasts

Other Tests:

Cytogenetic testing

FISH

Iron Studies:

Serum Iron: Normal to Increased

Serum Ferritin: Normal to Increased

TIBC: Decreased to Normal

References:

1. Rodak BF. Myelodysplastic syndromes. In: Rodak’s hematology clinical applications and principles. 5th ed. St. Louis, Missouri: Saunders; 2015. p.591-603.

2. Lawrence LW, Taylor SA. Myelodysplastic syndromes. In: Clinical laboratory hematology. 3rd ed. New Jersey: Pearson; 2015. p. 479-99.