Increased incidence of cancer in adult Gaucher disease in Western Europe

• Published in: Blood cells, molecules, & diseases Vol. 36; no. 1; pp. 53 - 58
• Main Authors: de Fost, M., vom Dahl, S., Weverling, G.J., Brill, N., Brett, S., Häussinger, D., Hollak, C.E.M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 2006
• Subjects: Adolescent; Adult; Age Factors; Aged; Carcinoma, Hepatocellular - etiology; Carcinoma, Hepatocellular - mortality; Child; Female; Gaucher disease; Gaucher Disease - complications; Gaucher Disease - mortality; Germany; Hepatocellular carcinoma; Humans; Incidence; Male; Middle Aged; Mortality; Multiple myeloma; Multiple Myeloma - etiology; Multiple Myeloma - mortality; Netherlands; Sex Factors; Netherlands; Germany; Hepatocellular carcinoma; Gaucher disease; Mortality; Multiple myeloma; Incidence
• ISSN: 1079-9796; 1096-0961
• DOI: 10.1016/j.bcmd.2005.08.004

The adult form of Gaucher disease (type I GD) is associated with a high prevalence of hypergammaglobulinemia and monoclonal gammopathy of undetermined significance (MGUS). A significantly increased risk of cancer, especially of hematological types, has been found in Ashkenazi-Jewish GD type 1 patients. In this study, incidence and mortality of cancer were assessed in a total of 131 GD patients of mixed ancestry in a population from Western Europe, i.e. 2 Gaucher referral centers in Germany (Düsseldorf) and the Netherlands (Amsterdam). Standardized rate ratios were determined by indirect standardization, using age- and sex-specific incidence and mortality rates of the Dutch population. A total of 14 GD patients of non-Ashkenazi-Jewish descent were identified of whom 5 had a hematologic malignancy. These numbers correspond to an increased risk of cancer of 2.5 (95% CI 1.1–4.7) and an increased risk of hematologic cancer of 12.7 (95% CI 2.6–37.0) among GD patients compared to the general population. In particular, the incidences of multiple myeloma and hepatocellular carcinoma in absence of preexisting cirrhosis were highly elevated, with standardized rate ratios of 51.1 (95% CI 6.2–184) and 141.3 (95% CI 17.1–510.5), respectively. These strongly increased risks on developing cancer suggest that measures for early detection and prevention of hematological and hepatic malignancies in patients with Gaucher type I disease are mandatory.