A 48-year-old female presented to the hospital with complaints of fatigue, bleeding from gums and rashes in her arms for the past one month with no evidence of organomegaly. Her complete blood count revealed haemoglobin of 8 gm/dl, total count 26450 cells/cumm and platelet count 10,000cell/cumm. Peripheral blood smear examination revealed the presence of blasts. Bone marrow aspirates showed hypercellular particles with infiltration by myeloblasts. Few cells showed the presence of Auer rods. A diagnosis of Acute Myeloid Leukemia was made. In addition to this, bone marrow aspirate smears showed the presence of many macrophages with blue crumpled cytoplasm, eccentrically placed nucleus, resembling gaucher cells . Perl’s stain helps to differentiate Gaucher cells from Pseudo-Gaucher cells . Pseudo-Gaucher cells do not take up the stain whereas Gaucher cells stain positive for Perl’s stain ^[1]. In our case, cells were positive for iron stain.

Flow cytometry confirmed and categorised the case as AML -M2 of FAB. Cytogenetic studies revealed del(7) (q32).

To the best of our knowledge this the first reported case of presence of Gaucher cells in association with AML.

Reference:

1. Gören Şahin D, Üsküdar Teke H, Karagülle M, et al. Gaucher Cells or Pseudo-Gaucher Cells: That's the Question. Gaucher Hücreleri ya da Pseudo-Gaucher Hücreleri: İşte Soru Bu. Turk J Haematol. 2014;31(4):428-429. doi:10.4274/tjh.2014.0019