hematology and oncology
Myelodysplastic Syndrome (MDS)
Diagnosis of MDS
Complete blood count (CBC) Peripheral smear Bone marrow examination Myelodysplastic syndrome is suspected in patients (especially older patients) with refractory anemia, Overview of Leukopenias , or thrombocytopenia. Cytopenias secondary to The diagnosis is suggested by the finding of peripheral blood and bone marrow morphologic abnormalities in 10 to 20% of cells of a particular lineage but is established by demonstrating specific cytogenetic abnormalities and somatic mutations. Bone marrow hypoplasia can occur. Anemia is the most common feature, associated usually with macrocytosis and anisocytosis. With automatic cell counters, these changes are indicated by an increased mean corpuscular volume and red blood cell distribution width. Some degree of thrombocytopenia is usual; on peripheral smear, platelets vary in size, and some appear hypogranular. Patients with refractory sideroblastic anemia may have thrombocytosis in combination with the JAK2 V617F mutation. The white blood cell count may be normal, increased, or decreased. Neutrophil cytoplasmic granularity is decreased, with anisocytosis and variable numbers of granules or sometimes no granules. Eosinophils also may have abnormal granularity. Pseudo Pelger-Huët cells (hyposegmented neutrophils) may be seen. Monocytosis is characteristic of the chronic and juvenile myelomonocytic leukemia subgroups, and immature myeloid cells may occur in the less well differentiated subgroups. The cytogenetic pattern is usually abnormal, with one or more clonal cytogenetic abnormalities often involving chromosomes 5 or 7. The deletion 5q syndrome is a unique form of myelodysplastic syndrome, occurring primarily in women in whom macrocytic anemia and thrombocytosis are typically present. Anemia in deletion 5q syndrome is responsive tolenalidomide. 