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Blood. 2005 Jun 15;105(12):4569-72. Epub 2005 Feb 17.

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

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  • 1Tower Hematology Oncology Medical Group, Beverly Hills, CA 90211, USA. rosenbloom@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 patients with GD from the International Gaucher Registry were studied. The number of cancers identified among patients in the registry was compared with that expected in the US 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% older than age 60. There were 10 patients with multiple myeloma, yielding an estimated relative risk of 5.9 (95% confidence interval [95% CI]: 2.8, 10.8). The relative risk of cancer overall was 0.79 (95% CI: 0.67, 0.94), and the subgroups for cancers of the breast, prostate, colon and rectum, lung, and hematologic malignancies 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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