Gaucher cells in chronic myelocytic leukemia: an acquired abnormality.

G AUCHER’S DISEASE is an inherited disorder1 of sphingolipid nietabolism caused by a deficiency of glucocerebrosidase.2”-’ The deficiency of this enzyme leads to the accumulation of its substrate, glucocerebroside,3 in reticuloendothelial cells, imparting to them their characteristic appearance. The presence of Gaucher cells was considered pathognomonic of this hereditary disorder until 1966 at which time Albrecht6 described a patient with chronic myelocytic leukemia ( CML) with typical Gaucher cells in his bone marrow. She then reviewed bone marrow aspirates from 64 patients with CML and found Gaucher cells in ten additional cases. This report concerns a patient with CML in whom Gaucher cells were seen in the bone marrow and other organs. Biochemical and electron microscopic studies were performed to establish the relationship of these cells to those found in Gaucher’s disease. Evidence will be presented showing that these cells are morphologically and biochemically similar to those of the hereditary disorder but arise through a different mechanism.