INCREASED RISK OF CANCER IN PATIENTS WITH GAUCHER DISEASE

Background. An increased incidence of cancer, especially hematopoietic in origin, has long been suspected but never established in patients with Gaucher disease. Methods. To determine whether patients with Gauc her disease have an increased risk of cancer, the authors conducted a retrospective cohort study, comparing the incidence and type of cancer in 48 patients with Gaucher disease with those of 511 control subject s without the disease. Results. Among patients with Gaucher disease, 1 0 of 48 (20.8%) had cancer, as compared with 35 of 511 (6.8%) of the c ontrol group (P = 0.0027; relative risk, 3.6; 95% confidence interval, 1.7-7.5). As compared with the control group, patients with Gaucher d isease had a 14.7-fold risk of having cancer of hematopoietic origin ( 10.4% [5 of 48] versus 0.78% [4 of 511], respectively; P = 0.00037; 95 % confidence interval, 5.2-41.7). The mean age at cancer diagnosis in the group with Gaucher disease was 57 +/- 18 years. Conclusions. The a uthors conclude that patients with Gaucher disease have a significantl y increased risk of cancer, occurring in late adulthood. Of all the ca ncers, hematologic cancers are significantly more prevalent.