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International Journal of Hematology

, Volume 85, Issue 4, pp 350–353 | Cite as

Pseudo-Gaucher Cell Proliferation Associated with Myelodysplastic Syndrome

  • Takeshi Saito
  • Noriko Usui
  • Osamu Asai
  • Nobuaki Dobashi
  • Hiroyuki Ida
  • Makio Kawakami
  • Shingo Yano
  • Hiroshi Osawa
  • Yutaka Takei
  • Shinobu Takahara
  • Yoji Ogasawara
  • Yuko Yamaguchi
  • Jiro Minami
  • Keisuke Aiba
Case Report

Abstract

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.

Key words

MDS Pseudo-Gaucher cell Splenomegaly Macrophage 

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References

  1. 1.
    Carrington PA, Stevens RF, Lendon M. Pseudo-Gaucher cells. J Clin Pathol. 1992;45:360.CrossRefGoogle Scholar
  2. 2.
    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
  3. 3.
    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
  4. 4.
    Scullin DC Jr, Shelburne JD, Cohen HJ. Pseudo-Gaucher cells in multiple myeloma. Am J Med. 1979;67:347–352.CrossRefGoogle Scholar
  5. 5.
    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
  6. 6.
    Beutler E. Gaucher’s disease. N Engl J Med. 1991;325:1354–1360.CrossRefGoogle Scholar
  7. 7.
    Dunn P, Kuo MC, Sun CF. Pseudo-Gaucher cells in mycobacterial infection: a report of two cases. J Clin Pathol. 2005;58:1113–1114.CrossRefGoogle Scholar
  8. 8.
    Abramson N. Images in hematology: Gaucher cells and HIV. Blood. 2006;107:11.PubMedGoogle Scholar
  9. 9.
    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
  10. 10.
    Stewart AJ, Jones RDG. Pseudo-Gaucher cells in myelodysplasia. J Clin Pathol. 1999;52:917–918.CrossRefGoogle Scholar
  11. 11.
    Howard MR, Kesteven PJL. Sea blue histiocytosis: a common abnormality of the bone marrow in myelodysplastic syndromes. J Clin Pathol. 1993;46:1030–1032.CrossRefGoogle Scholar
  12. 12.
    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
  13. 13.
    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
  14. 14.
    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

Copyright information

© The Japanese Society of Hematology 2007

Authors and Affiliations

  • Takeshi Saito
    • 1
  • Noriko Usui
    • 1
  • Osamu Asai
    • 1
  • Nobuaki Dobashi
    • 1
  • Hiroyuki Ida
    • 2
  • Makio Kawakami
    • 3
  • Shingo Yano
    • 1
  • Hiroshi Osawa
    • 1
  • Yutaka Takei
    • 1
  • Shinobu Takahara
    • 1
  • Yoji Ogasawara
    • 1
  • Yuko Yamaguchi
    • 1
  • Jiro Minami
    • 1
  • Keisuke Aiba
    • 1
  1. 1.Division of Oncology and Hematology, Department of Internal MedicineJikei University School of MedicineTokyoJapan
  2. 2.Department of PediatricsJikei University School of MedicineTokyoJapan
  3. 3.Department of PathologyJikei University School of MedicineTokyoJapan

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