Type I Gaucher disease with severe skeletal destruction, extraosseous extension, and monoclonal gammopathy

Abstract

Extraosseous extensions of Gaucher-cell deposits simulate malignant diseases. We describe a 65-year-old male with type-I Gaucher disease, confirmed by low leukocyte glucocerebrosidase activity, high plasma chitotriosidase, and N370/L444P gene-mutations, who had severe skeletal involvement, IgG-k monoclonal gammopathy, and a soft-tissue mass within the left iliac muscle. Bone marrow biopsy showed heavy infiltration by Gaucher cells, and histopathology of the excised extraosseous mass revealed infiltration by Gaucher cells. Thus, malignant diseases were excluded and the diagnosis of an extraosseous Gaucher-cell extension was well documented. Our case is reported because it is very interesting and unique in the literature. Am.

Recommendations for the management of the haematological and onco‐haematological aspects of Gaucher disease1

“…Careful measurement of the mass is required, as the spleen may shrink in response to treatment, making the Gaucheroma appear proportionately larger and thus mimicking a growing tumour. Gaucheromas are common in the spleen and liver ( Patlas et al , 2002 ) and are noted in Gaucher-related skeletal disease ( Kaloterakis et al , 2004 ).…”

Extraosseous Gaucher cell deposition without adjacent bone involvement

“…A postulated mechanism for the cortical destruction necessary for extraosseous extension is the release of hydrolases and cytokines due to increased intramedullary pressure [3]. All four cases of extraosseous Gaucher disease found by Poll et al [3] as well as two cases reported by Hermann et al [5] and a case reported by Kaloterakis et al [8] described underlying marrow involvement and cortical disruption. To our knowledge, our patient is the only reported case of a subcutaneous Gaucher cell mass without extension from adjacent bone or lymph nodes.…”

“…The disease is characterized by a deficiency of beta-glucocerebrosidase, which in turn leads to accumulation of glucocerebrosides (specifically glucosylceramide). Glucocerebroside-laden macrophages known as Gaucher cells typically accumulate in the liver, spleen, bone marrow, lymph nodes, brain, and lung [1][2][3][4][5][6][7][8][9]. Bone marrow involvement with Gaucher disease is particularly common, being a major complication in up to 80 % of affected patients and can result in anemia, coagulopathy, osteonecrosis, bony remodeling, and fracture [3,4].…”

Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper

“…GBA gen is located in chromosome 1q21 [2]. Three types of this autosomal recessive disorder have been described based on the presence and nature of the central nervous system involvement [3,4]. Type 1 (or chronic non-neuronopathic GD) is the most common form of the disease, type 2 (or acute infantile neuronopathic GD) typically begins within 6 months of birth, and type 3 (or chronic neuronopathic form) may begin at any time in childhood or even in adulthood [5,6].…”