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Journal of Clinical Oncology, Vol 23, No 21 (July 20), 2005: pp. 4792-4793 © 2005 American Society of Clinical Oncology. DOI: 10.1200/JCO.2005.05.141
Pediatric MalignanciesCASE 2. Peripheral T-Cell Lymphoma in an Adolescent With Unsuspected Gaucher DiseaseUniversity of California, San Francisco, Children's Hospital, San Francisco, CA A previously healthy 16-year-old white male noticed a growing, painless lump on his left shoulder. He was seen by his family physician, who removed the lesion thinking it was a cyst. At the time of resection, the lesion measured roughly 2 to 3 cm in size. Preliminary pathology review was suggestive of a lymphoma, and he was referred to the University of California, San Francisco, for further evaluation. Review of systems was unremarkable. Past medical history revealed that 10 years before this presentation his pediatrician had noted an enlarged liver. Family history was unremarkable, and he has one healthy sibling. Physical examination revealed a healing incision on his left shoulder, a port-wine stain extending along his left arm, hepatosplenomegaly, but no lymphadenopathy. A computed tomography scan of his chest, abdomen, and pelvis confirmed the hepatosplenomegaly, but no other abnormalities. A positron emission tomography scan did not show any abnormal uptake in the liver or spleen. All laboratory tests were within normal limits, including a CBC. Pathology of the lesion demonstrated a peripheral T-cell lymphoma (Fig 1) expressing CD45, CD45R0, CD3, CD15 and lacking EMA, CD20, CD30 and ALK-1. He underwent bilateral bone marrow aspirates and biopsies for staging. Microscopic examination of the bone marrow revealed numerous Gaucher cells, which are large storage cells with abundant cytoplasm containing striations representing abnormal amounts of glycosphingolipids (Fig 2). Enzyme analysis confirmed that he had Gaucher disease.
Gaucher disease is a lysosomal storage disorder resulting from a deficient activity of the lysosomal hydrolase, glucocerebrosidase, leading to an excessive accumulation of glucocerebroside in the cells of the reticuloendothelial system. There is a spectrum of clinical consequences, but this patient has chronic, non-neuropathic type 1 Gaucher disease. Individuals with Gaucher disease may be at a 14-fold increased risk for hematologic malignancies.1 There have been a number of reports of different hematologic malignancies associated with Gaucher disease.2-5 These include lymphomas and multiple myeloma. It is important to confirm a diagnosis of Gaucher disease, as pseudo-Gaucher cells can be identified in the bone marrow of patients with lymphomas and other hematologic disorders.6, 7 Peripheral T-cell lymphomas are rare in children and adolescents and are associated with an aggressive behavior. In this case, we would have considered bone marrow transplantation (which can also ameliorate Gaucher disease8) if this patient had disseminated disease. The patient is being treated with six cycles of cyclophosphamide, adriamycin, vincristine, and prednisone, and also receives concurrent enzyme replacement therapy for Gaucher disease.9, 10 Authors' Disclosures of Potential Conflicts of Interest The following authors or their immediate family members have indicated a financial interest. No conflict exists for drugs or devices used in a study if they are not being evaluated as part of the investigation. Consultant/Advisory Role: Seymour Packman, Genentech. For a detailed description of this category, or for more information about ASCO's conflict of interest policy, please refer to the Author Disclosure Declaration and Disclosures of Potential Conflicts of Interest found in Information for Contributors in the front of each issue.
REFERENCES 1. Shiran A, Brenner B, Laor A, et al: Increased risk of cancer in patients with Gaucher disease. Cancer 72:219-224, 1993[CrossRef][Medline] 2. Perales M, Cervantes F, Cobo F, et al: Non-Hodgkin's lymphoma associated with Gaucher's disease. Leuk Lymphoma 31:609-612, 1998[Medline] 3. Marti GE, Ryan ET, Papadopoulos NM, et al: Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Am J Hematol 29:189-194, 1988[Medline] 4. Bertram HC, Eldibany M, Padgett J, et al: Splenic lymphoma arising in a patient with Gaucher disease: A case report and review of the literature. Arch Pathol Lab Med 127:e242-245, 2003 5. Cho SY, Sastre M: Coexistence of Hodgkin's disease and Gaucher's disease. Am J Clin Pathol 65:103-108, 1976[Medline] 6. Robak T, Urbanska-Rys H, Jerzmanowski P, et al: Lymphoplasmacytic lymphoma with monoclonal gammopathy-related pseudo-Gaucher cell infiltration in bone marrow and spleen—Diagnostic and therapeutic dilemmas. Leuk Lymphoma 43:2343-2350, 2002[Medline] 7. Zidar BL, Hartsock RJ, Lee RE, et al: Pseudo-Gaucher cells in the bone marrow of a patient with Hodgkin's disease. Am J Clin Pathol 87:533-536, 1987[Medline] 8. Rappeport JM, Ginns EI: Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med 311:84-88, 1984[Abstract] 9. Charrow J, Andersson HC, Kaplan P, et al: Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: Consensus recommendations. J Pediatr 144:112-120, 2004[CrossRef][Medline] 10. Desnick RJ: Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 27:385-410, 2004[CrossRef][Medline]
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Copyright © 2005 by the American Society of Clinical Oncology, Online ISSN: 1527-7755. Print ISSN: 0732-183X
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