Gaucher-like cells in myelodysplastic syndrome with ring sideroblasts

An 81-year-old male was hospitalized for fatigue, pallor and transfusion-dependent anemia. His physical exam was negative for lymphadenopathy or splenomegaly. Tests showed hemoglobin concentration of 8 g/dl, platelet count of 160 × 10⁹/l, WBC of 6.2 × 10⁹/l with the following differential: neutrophils 60%, lymphocytes 20%, monocytes 7%, eosinophils 3%, basophils 1% and a low reticulocyte count of 0.5%RBC. Bone marrow aspirate showed increased cellularity mainly due to the proliferating erythroid lineage that displayed dyserthropoietic features (Figure 1A) with no evidence of blasts excess. Few atypical macrophages showing “Gaucher-like” morphological features were also noted (Figure 1B).

Figure 1
(A) Bone marrow aspirate showing several erythroblasts displaying dyserythropoietic features (May Grunwald Giemsa stain, 1000×). (B) Atypical macrophage showing Gaucher-like cell morphology (May Grunwald Giemsa stain, 1000×). (C) Iron stain of bone marrow aspirate showing numerous ring sideroblasts (Iron stain, 1000×).

Iron stain revealed significantly increased ring sideroblasts which represented 54% of the counted erythroblasts (Figure 1C).

Secondary causes of sideroblastic anemia were ruled out. Additional investigations revealed a normal level of leukocyte β-glucosdiase activity and a positive SF3B1 mutation.

Findings were consistent with a diagnosis of Myelodysplastic syndrome with ring sideroblasts (MDS-RS).

MDS-RS is an MDS characterized by cytopenias, morphological dysplasias and ≥15% marrow ring sideroblasts. In most cases, there is an associated SF3B1 mutation.

Gaucher-like cells have been described in the context of hematologic disorders with high cellular turnover related to malignant proliferation such as chronic myeloid leukemia or multiple myeloma ¹, ², ³, ⁴, ⁵. They have also been reported in association with some subtypes of Congenital dyserythropoietic anemia ⁶. Proliferation of the erythroid lineage reflecting an underlying inefficient erythropoiesis represents the common finding with this reported MDS-RS case.

References

• ¹
  Zidar Bl, Hartsock Rj, Lee Re, Glew Rh, LaMarco Kl, Pugh Rp, Raju Rn, Shackney Se. Pseudo-Gaucher cells in the bone marrow of a patient with Hodgkin’s disease. Am J Clin Pathol. 1987;87(April (4)):533-6.
• ²
  Zaino EC, Rossi MB, Pham TD, Azar HA. Gaucher’s cells in thalassemia. Blood. 1971;38(4):457-62.
• ³
  Scullin DC Jr, Shelburne JD, Cohen HJ. Pseudo-Gaucher cells in multiple myeloma. Am J Med. 1979;67(August (2)):347-52.
• ⁴
  Carrington PA, Stevens RF, Lendon M. Pseudo-Gaucher cells. J Clin Pathol. 1992;45(April (4)):360, http://dx.doi.org/10.1136/jcp.45.4.360
  » http://dx.doi.org/10.1136/jcp.45.4.360
• ⁵
  Stewart AJ, Jones RD. Pseudo-Gaucher cells in myelodysplasia. J Clin Pathol. 1999;52(12):917-8.
• ⁶
  Van Dorpe A, Orshoven Broeckaert-van, Desmet V, Verwilghen RL. Gaucher-like cells and congenital dyserythropoietic anaemia, type II (HEMPAS). Br J Haematol. 1973;25(2):165-70.

Publication Dates

• Publication in this collection
  21 Mar 2022
• Date of issue
  Jan-Mar 2022

History

• Received
  28 June 2020
• Accepted
  31 Aug 2020
• Published
  28 Sept 2020