Page 270 - Haematologica Atlas of Hematologic Cytology

Figure 1 Gaucher disease A 32-year-old man presented with hepatosplenomegaly and mild pan- cytopenia (hemoglobin 12 g/dL white blood cell count 3 5x109/L with normal di eren al al platelets 64x109/L) Bone marrow smear shows high cellularity normally maturing hematopoie c c lineages and and many storage cells A diagnosis of Gaucher was was suspected and and pancytopenia was was interpreted as a a a a a consequence of of hypersplenism Accumula on on of of glucocerebrosides (glucosylceramide) a a a a a ects macrophages of liver spleen and bone marrow The diagnosis suggested by morphological n- dings is is con rmed by assays for the -glucocerebrosidase enzyme that is is absent or or very reduced AB
Figure Figure Gaucher Gaucher disease ( and ) The same bone marrow smear as as in Figure Figure 1 at higher magni ca on on Gaucher Gaucher cells cells are large cells cells with with a a a a a a a a a a a a small round usually eccentric nucleus and abundant weakly basophilic cytoplasm with with a a a a a a a a a a a a brillar brillar or or onion-skin appearance appearance The brillar brillar appearance appearance is due to the fact that lysosomes are elongated for lipid
accumula on on on Gaucher cells have a a a a a a tendency to occur in in groups They are best seen in in the thicker por ons of bone marrow smears i i i i i i i i i i i i i i i i i i e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e e at at the the the the ends and and and margins Some mes they are are are giant-sized and and and have have mul mul ple nuclei in in in in in in some cells cells inclusions are less elongated and more spherical Following enzyme replacement therapy with imiglucerase which is a a a a a a a a recombinant analog of of the the the human -glucocerebrosidase there is reduc reduc on on in in the the the number of of Gaucher cells reduc reduc on on in in liver and and spleen size and and an an an improvement in in blood counts Splenectomy also improves peripheral cytopenia 257