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Blood Res (2024) 59:7
Published online February 28, 2024
https://doi.org/10.1007/s44313-024-00005-x
© The Korean Society of Hematology
Gaucher or pseudo-Gaucher cells
Correspondence to : *Gurpreet Kaur
gurpreet.sagoo37@gmail.com
© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
The patient, a 65-year-old man, presented with a prolonged history of upper abdominal discomfort, anorexia, and weight loss. Examination revealed splenomegaly 15 cm below the left costal margin. There was leukocytosis with moderate anemia. Bone marrow examination revealed hypercellular marrow with a myelogram that showed: myeloblasts 02%; promyelocytes 02%; myelocytes 28%; metamyelocytes 17%; band forms 20%; neutrophils 20%; and basophils 5%, eosinophils 03%, lymphocytes 03%. There was a mild increase in megakaryocyte number with occasional dwarf forms, and numerous pseudo-Gaucher cells with a crumpled tissue paper appearance were seen. Reverse transcription-PCR for BCR–Abl was positive for p210 transcript. Pseudo-Gaucher cells occur in a variety of conditions, such as sickle cell anemia, congenital dyserythropoietic anemias, immune thrombocytopenia, acute lymphoblastic leukemia, multiple myeloma, myelodysplasia, Hodgkin’s disease, thalassemia, and disseminated mycobacterial infection. Pseudo-Gaucher cells cannot be distinguished from true Gaucher cells by routine hematoxylin–eosin staining; however, iron stain can be used to differentiate them, in which case Gaucher cells exhibit diffuse iron staining whereas pseudo-Gaucher cells do not. Electron microscopy shows that Gaucher cells contain typical tubular cytoplasmic inclusions absent in pseudo-Gaucher cells. The knowledge of possible associations, appropriate immunohistochemistry, and relevant additional investigations are necessary for final diagnosis (Fig. 1).
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Fig. 1. Aggregates of Pseudo-gaucher or histiocytes with cells with rounded, blue, lamellar cytoplasm resembling "onion skin" or "crumpled tissue paper"
Authors’ contributions
Photography: Dr Gurpreet Kaur. Write up: Dr Gurpreet Kaur, Dr Ankur Ahuja. Proof reading: Dr Ganesh Kumar Vishwananthan, Dr Arijit Sen.
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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Ethics approval and consent to participate
No ethics approval is required.
Competing interests
The authors declare that they have no competing interests.
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Blood Res 2024; 59():
Published online February 28, 2024 https://doi.org/10.1007/s44313-024-00005-x
Copyright © The Korean Society of Hematology.
Gaucher or pseudo-Gaucher cells
Gurpreet Kaur1*, Ankur Ahuja1, Ganesh Kumar Vishwananthan1 and Arijit Sen1
1Department of Hematology, All India Institute of Medical Sciences, Ansari Nagar East, New Delhi 110049, India
Correspondence to:*Gurpreet Kaur
gurpreet.sagoo37@gmail.com
© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
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The patient, a 65-year-old man, presented with a prolonged history of upper abdominal discomfort, anorexia, and weight loss. Examination revealed splenomegaly 15 cm below the left costal margin. There was leukocytosis with moderate anemia. Bone marrow examination revealed hypercellular marrow with a myelogram that showed: myeloblasts 02%; promyelocytes 02%; myelocytes 28%; metamyelocytes 17%; band forms 20%; neutrophils 20%; and basophils 5%, eosinophils 03%, lymphocytes 03%. There was a mild increase in megakaryocyte number with occasional dwarf forms, and numerous pseudo-Gaucher cells with a crumpled tissue paper appearance were seen. Reverse transcription-PCR for BCR–Abl was positive for p210 transcript. Pseudo-Gaucher cells occur in a variety of conditions, such as sickle cell anemia, congenital dyserythropoietic anemias, immune thrombocytopenia, acute lymphoblastic leukemia, multiple myeloma, myelodysplasia, Hodgkin’s disease, thalassemia, and disseminated mycobacterial infection. Pseudo-Gaucher cells cannot be distinguished from true Gaucher cells by routine hematoxylin–eosin staining; however, iron stain can be used to differentiate them, in which case Gaucher cells exhibit diffuse iron staining whereas pseudo-Gaucher cells do not. Electron microscopy shows that Gaucher cells contain typical tubular cytoplasmic inclusions absent in pseudo-Gaucher cells. The knowledge of possible associations, appropriate immunohistochemistry, and relevant additional investigations are necessary for final diagnosis (Fig. 1).
-
Figure 1. Aggregates of Pseudo-gaucher or histiocytes with cells with rounded, blue, lamellar cytoplasm resembling "onion skin" or "crumpled tissue paper"
Authors’ contributions
Photography: Dr Gurpreet Kaur. Write up: Dr Gurpreet Kaur, Dr Ankur Ahuja. Proof reading: Dr Ganesh Kumar Vishwananthan, Dr Arijit Sen.
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Declarations
Ethics approval and consent to participate
No ethics approval is required.
Competing interests
The authors declare that they have no competing interests.
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