Investigation and diagnosis

• History: prior exposure to chemotherapy/radiation; FH of MDS/AML; recurrent infection or bleeding/bruising.

• Examination: pallor; infection; bruising; splenomegaly.

• FBC: macrocytic/normochromic anaemia ± neutropenia ± thrombocytopenia ± neutrophilia ± monocytosis ± thrombocytosis.

• Blood film: may demonstrate dimorphic red cells ± Pappenheimer bodies in RARS; basophilic stippling in RBCs; dysplastic granulocytes: pseudo-Pelger forms, hypersegmented neutrophils, hypogranular neutrophils, dysmorphic monocytes ± blasts; platelets may be large or hypogranular.

• U&E, LFTs, ECG and CXR: to assess co-morbidity.

• Serum ferritin, vitamin B12 and RBC folate: usually normal levels; ferritin may be elevated in RARS.

• Serum Epo level: indicates probability of therapeutic response to Epo.

• BM aspirate: demonstrates >10% dysplastic cells in > 2 lineages (for FAB system): megaloblastoid erythropoiesis, nuclear-cytoplasmic asyn-chrony in myeloid or erythroid precursors, dysmorphic megakaryocytes or micro-megakaryocytes; normal or increased storage iron; >15% ringed sideroblasts in RARS; increased monocytes in CMML.

• BM trephine biopsy: allows assessment of cellularity—usually 4 or normal; may demonstrate abnormal localisation of immature myeloid precursors centrally in the intertrabecular interstitium (ALIPs), megakaryocyte dysplasia, fibrosis or hypocellular MDS variant.

• BM cytogenetic analysis: may demonstrate clonal chromosome abnor-mality(s) confirming diagnosis and with prognostic value.

• Definitive diagnosis of early MDS (e.g. isolated cytopenia) may be difficult; regular review with repeat blood count and film assessment recommended; in all cases a measure of the pace of the disease over a 2-6 week period is of prognostic value.

Blood film in MDS showing bilobed pseudo-Pelger neutrophil
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