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Review
. 2023 Aug 25;12(17):5518.
doi: 10.3390/jcm12175518.

The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology-A Case Report and Review of the Literature

Paulina Sudul  1   2 , Beata Piatkowska-Jakubas  1   3 , Lukasz Pawlinski  1   4 , Krystyna Galazka  5 , Tomasz Sacha  1   3 , Beata Kiec-Wilk  1   2   4
Affiliations
Review

The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology-A Case Report and Review of the Literature

Paulina Sudul et al. J Clin Med. .

Abstract

Hematological abnormalities are the most common early symptoms of Gaucher disease (GD), with an increased risk of hematopoietic system malignancies reported in patients with GD. GD may be associated with monoclonal and polyclonal gammopathies; however, the mechanism of association of GD with multiple myeloma (MM) remains uncertain. Enzyme replacement therapy (ERT) has been shown to improve patients' cytopenia and it seems to facilitate anti-myeloma therapy in patients with co-occurring GD and MM. Although it is necessary to demonstrate the deficiency of enzymatic activity, as well as using genetic tests to finally diagnose GD, due to changes in the blood count image, bone marrow biopsy is still a frequent element of the GD diagnosis procedure. The diagnosis of GD is often delayed, mainly due to the heterogeneity of the histopathological picture of bone marrow biopsy or overlapping hematological abnormalities. Unrecognized and untreated GD worsens the response of a patient with an oncological disease to targeted treatment. We present a literature review, inspired by the case of a Caucasian patient initially diagnosed with MM and later confirmed with comorbid GD type 1 (GD1). We would like to point out the problem of underdiagnosis and delay in patients with GD.

Keywords: Gaucher disease; adult-oriented medical care; biomarkers; coordination of care; enzyme replacement therapy; genetics; molecular diagnosis; multiple myeloma.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
(a) CD68-positive abnormal histiocytes in the neoplastic plasma cell infiltration of the femoral bone. CD68 immunostaining. Obj. magn. ×40. (b) Neoplastic plasma cell infiltration of the femoral bone, with a focal accumulation of histiocytes with an abundant eosinophilic or clear cytoplasm (Gaucher’s cells). H&E. Obj. magn. ×20. The result of the re-analysis of the bone fragment collected by the hematopathologist from the pathological fracture.
Figure 2
Figure 2
(a) Trephine biopsy—bone marrow occupied by the sheets of abnormal histiocytes. H&E. Obj. magn. ×20. (b) Trephine biopsy—a sheet of histiocytes (Gaucher’s cells) with an abundant eosinophilic (arrow) or clear cytoplasm with irregular vacuoles (arrowhead). H&E. Obj. magn. ×40. (c) Trephine biopsy—abnormal histiocytes with very weak cytoplasmic PAS positivity. Periodic acid-Schiff staining. Obj. magn. ×40. (d) Trephine biopsy—histiocytes stained for immunoglobulin kappa light chains. Kappa light chain immunostaining. Obj. magn. ×40.
Figure 2
Figure 2
(a) Trephine biopsy—bone marrow occupied by the sheets of abnormal histiocytes. H&E. Obj. magn. ×20. (b) Trephine biopsy—a sheet of histiocytes (Gaucher’s cells) with an abundant eosinophilic (arrow) or clear cytoplasm with irregular vacuoles (arrowhead). H&E. Obj. magn. ×40. (c) Trephine biopsy—abnormal histiocytes with very weak cytoplasmic PAS positivity. Periodic acid-Schiff staining. Obj. magn. ×40. (d) Trephine biopsy—histiocytes stained for immunoglobulin kappa light chains. Kappa light chain immunostaining. Obj. magn. ×40.
See this image and copyright information in PMC

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