Imprint cytology of Gaucher's disease presenting as a splenic mass. A case report with molecular approaches.

BACKGROUND: Gaucher's disease is an autosomally transmitted lysosomal storage disease caused by a defect in the lysosomal enzyme, β-glucosidase. CASE: A 43-year-old male presented with splenomegaly and anemia. Magnetic resonance imaging examination of the abdomen revealed huge, round masses in the spleen. Intraoperative cytology of the spleen showed Gaucher cells that resembled macrophages, with eccentric, small, oval nuclei, but distinguished by their abundant cytoplasm with the characteristic wrinkled tissue paper appearance. The cytologic features of the smears correlated well with the histologic sections from the splenectomized specimen. The DNA from this patient was examined for seven glucocerebrosidase mutations that are known to cause Gaucher's disease. The patient was heterozygous for the 754 mutation. Diagnosis was confirmed by a deficiency of β-glucosidase, The residual activity was 15% of control values. CONCLUSION: Diagnosis of Gaucher's disease was made cytologically and subsequently confirmed by the polymerase chain reaction. Imprint cytology is a sensitive diagnostic test, and the combined use of histology and molecular techniques offers the highest probability of identifying this common lysosomal storage disorder.