We report an extremely rare case of pseudo-Gaucher cell proliferation with myelodysplastic syndrome (MDS). A 77-year-old Japanese man was referred to our hospital with splenomegaly and thrombocytopenia, and subsequent bone marrow aspiration revealed infiltrates of foamy vacuolated macrophages without any evidence of other morphologic abnormalities. A karyotype analysis showed the presence of 46,XY,del(20)(q11) in 20 of 20 examined bone marrow cells. We performed a splenectomy, and the resulting pathologic findings revealed massive infiltration of foamy vacuolated macrophages, which were morphologically compatible with Gaucher cells. The activities of β-glucosidase and acid sphingomyelinase were within normal ranges; therefore, the foamy vacuolated macrophages were considered pseudo-Gaucher cells. A diagnosis of MDS, subclassified as refractory anemia, was then made according to World Health Organization classification guidelines. Pseudo-Gaucher cell proliferation and infiltration might therefore be observed in other patients presenting with MDS.
MDS Pseudo-Gaucher cell Splenomegaly Macrophage
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Busche G, Majewski H, Schlue J, et al. Frequency of pseudo-Gaucher cells in diagnostic bone marrow biopsies from patients with Ph-positive chronic myeloid leukaemia. Virchows Arch. 1997;430: 139–148.CrossRefGoogle Scholar
Robak T, Urbanska-Rys H, Jerzmanowski P, Bartkowiak J, Liberski P, Kordek R. Lymphoplasmacytic lymphoma with monoclonal gammopathy-related pseudo-Gaucher cell infiltration in bone marrow and spleen: diagnostic and therapeutic dilemmas. Leuk Lymphoma. 2002;43:2343–2350.PubMedGoogle Scholar
Scullin DC Jr, Shelburne JD, Cohen HJ. Pseudo-Gaucher cells in multiple myeloma. Am J Med. 1979;67:347–352.CrossRefGoogle Scholar
Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: consensus statements. Eur J Pediatr. 2004;163:58–66.CrossRefGoogle Scholar
Taketomi T, Uemura K, Hara A, Saito H. Biochemical characterization of peripheral blood in an outpatient with atypical Gaucher’s disease type 1 like myelodysplastic syndrome. Jpn J Exp Med. 1989;59:85–88.PubMedGoogle Scholar
Kuyama J, Fushino M, Take H, Kanayama Y. Myelodysplastic syndrome associated with erythrophagocytosis by blasts and myeloid cells. Int J Hematol. 1995;62:243–246.CrossRefGoogle Scholar
Mori H, Tawara M, Yoshida Y, et al. Minimally differentiated acute myeloid leukemia (AML-M0) with extensive erythrophagocytosis and del(20)(q11) chromosome abnormality. Leuk Res. 2000;24:87–90.CrossRefGoogle Scholar
Asimakopoulos FA, White NJ, Nacheva E, Green AR. Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. Blood. 1994;84:3086–3094.PubMedGoogle Scholar