Canadian Association of Pathologists - Case of the Month, April 2007
27 year-old woman with chronic pancytopenia and splenomegaly.
Diagnosis:
Gaucher's disease, Type I.
Microscopic description:
Increased numbers of histiocytes are seen both the aspirate and bone marrow specimen. These Gaucher cells are large benign appearing cells with small nucleus and ample weakly basophilic staining cytoplasm with fibrillar ("wrinkled tissue paper", "onion-skin" or "watered silk") appearance. Gaucher cells may contain iron and typically stain positive for PAS, Sudan black B, non-specific esterase and TRAP stains. In the bone marrow biopsy, as shown in this case, sheets of pale-staining histiocytes can replace large areas of the bone marrow cavity. Cells resembling Gaucher cells, so called "pseudo-Gaucher cells" are seen in the bone marrow in many hematopoietic conditions associated with increased cell turnover such as chronic myelogenous leukemia (CML), acute leukemias and thalassemia major (see "Appearance of Gaucher's disease in bone marrow aspirate smears" link below).
The biopsy showed sheets of benign appearing histiocytes replacing much of the marrow cavity with islands of erythropoiesis, scattered megakaryocytes and diminished granulopoiesis. The aspirate smear in this case, in addition increased numbers of pale-staining histiocytes, showed relative erythroid hyperplasia.
Gaucher's disease can be diagnosed by bone marrow aspirate and biopsy, however, specific assays for the glucocerebrosidase enzyme and DNA-based tests for detecting the many mutations that exist for this disease are required for diagnosis, prognosis and genetic counseling for this disease.
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Appearance of Gaucher's disease in bone marrow aspirate smears, annotated Wright-Giemsa stain |
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Appearance of Gaucher's disease in a liver biopsy, H&E stain |
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Appearance of Gaucher's disease in spleen (splenectomy specimen), H&E stain |
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Electron microscopy of Gaucher's cells |
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Another case of Gaucher's disease, bone marrow biopsy, H&E stain |
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Another case of Gaucher's disease, bone marrow biopsy, PAS stain |
About Gaucher's disease:
Gaucher's disease is the most common lysosomal storage disease and is caused by a deficiency of glucocerebrosidase leading to accumulation glucocerebroside in the spleen, liver, lungs, bone marrow, and in some cases, the brain.
More about Gaucher's disease at http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm.