Gaucher disease can predispose patients to rare types of blood cancer, and doctors should be vigilant for the development of these malignancies, a case report suggests.
The study, “A case of bony lytic lesions in a patient with Gaucher disease,” was published in the journal Clinical Case Reports.
The most common symptoms of Gaucher disease are reduced platelet count, enlarged liver and spleen, and lesions in the bones. This disease also has been associated with an increased risk of blood disorders.
Researchers in Canada reported the case of a 57-year-old man who developed a rare type of blood cancer cell probably related to Gaucher disease, as he had Gaucher cells — cells that accumulate abnormal amounts of a fat molecule (glucocerebroside) characteristic of the condition — in his bone marrow.
The man had a scalp lesion that did not heal and progressively increased in size. Doctors performed a biopsy and discovered it was caused by a plasmacytoma, a rare form of blood cancer in which myeloma cells form a tumor in the bones or soft tissues.
At the time of biopsy, the patient had mild anemia, low levels of platelets, and a family of blood proteins called gamma globulins — characteristic of myeloma. His kidney function and calcium levels were normal.
Further tests showed that the man had several bony lytic lesions — spots of bone damage caused by cancerous myeloma cells — and a bone marrow biopsy showed infiltration of both plasma cells and Gaucher cells. That led to a diagnosis of plasma cell myeloma probably associated with Gaucher disease.
“Gaucher cells infiltrating the bone marrow may mask the extent of abnormal plasma cell infiltrates, and immunohistochemical staining [a method that identifies abnormal cells in biopsies] can be invaluable in identifying the true burden of plasma cells for appropriate classification of suspected plasma cell neoplasia,” the researchers said.
The investigators also noted that the man had a history of abnormal spleen size and reduced blood cell count. A bone marrow biopsy performed years earlier showed the presence of possible Gaucher cells.
“Gaucher disease … should be considered in the differential diagnosis of unexplained hepatomegaly [abnormal liver size], splenomegaly [abnormal spleen size], or cytopenias [reduced blood cell count],” the investigators said. They added that further research of the previous symptoms might have allowed diagnosing Gaucher disease before the cancer appeared.
The patient received a combination of chemotherapy, cyclophosphamide, and Velcade (bortezomib), followed by high doses of melphalan and autologous stem cell transplantation. He tolerated the transplant well and was discharged with the recommendation of long-term follow-up.