The diagnosis of MDS requires a comprehensive evaluation of bone marrow and peripheral blood samples. Histological examination involves:
Bone Marrow Biopsy: A core biopsy and an aspirate are taken. The biopsy is used to assess cellularity and the presence of dysplastic features, while the aspirate is examined for cytogenetic analysis. Peripheral Blood Smear: Examination reveals cytopenias and morphological abnormalities in blood cells, such as anisocytosis, poikilocytosis, and abnormal nuclear shapes in neutrophils and platelets. Cytogenetic Analysis: This is crucial for confirming the diagnosis and involves karyotyping and fluorescence in situ hybridization (FISH) to detect chromosomal abnormalities.
