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Blood, 15 June 2005, Vol. 105, No. 12, pp. 4569-4572.
Prepublished online as a Blood First Edition Paper on February 17, 2005; DOI 10.1182/blood-2004-12-4672.
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Submitted December 7, 2004
Accepted February 5, 2005
Gaucher disease and cancer incidence: a study from the Gaucher registry
Barry E Rosenbloom*, Neal J Weinreb, Ari Zimran, Katherine A Kacena, Joel Charrow, and Elizabeth Ward
Tower Hematology Oncology, Beverly Hills, CA, USA
University Research Foundation for Lysosomal Storage Diseases, Coral Springs, FL, USA
Department of Medicine, Shaare Zedek Medical Center, Jerusalem, Israel
Genzyme Corporation, Cambridge, MA, USA
Division of Genetics, Department of Pediatrics, Children's Memorial Hospital, Feinberg School of Medicine of Northwestern University, Chicago, IL, USA
American Cancer Society, Atlanta, GA, USA
* Corresponding author; email: rosenbloom{at}toweroncology.com.
Patients with Gaucher disease (GD) are alleged to be at an increased risk of malignant disorders, possibly due to potential chronic stimulation of the immune system and lymphoproliferation associated with storage of glucocerebroside in tissue macrophages. Because previous reports of increased risk of malignancy in GD may have been affected by small patient numbers and ascertainment bias, 2742 GD patients from the International Gaucher Registry were studied. The number of cancers identified among patients in the Registry was compared to that expected in the U.S. population of similar attained age and sex. The majority of patients were young or middle-aged adults at the time of last follow-up, with only 14% over age 60. There were 10 patients with multiple myeloma, yielding an estimated relative risk of 5.9 (95% C.I.: 2.8, 10.8). The relative risk of cancer overall was 0.79 (95% C.I.: 0.67, 0.94) and the subgroups for cancers of the breast, prostate, colorectal, lung, and hematolgic maligniancies other than myeloma did not yield statistically significant higher risks. This study suggests that, in general, patients with Gaucher disease are not at highly increased risk of cancer, at least during early and middle age. However, there appears to be a significantly higher risk of multiple myeloma of which physicians should be aware when caring for these patients.
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