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International Journal of Cell Biology
Volume 2011, Article ID 150450, 6 pages
Review Article

Gaucher Disease and Cancer: Concept and Controversy

1Department of Biology, Centre for Biomedical Research, University of Victoria, P.O. Box 3020, Station CSC, Victoria, BC, Canada V8W 3N5
2TNC Scientific Consulting, Calgary, AB, Canada

Received 27 January 2011; Revised 2 April 2011; Accepted 15 April 2011

Academic Editor: Anton M. Jetten

Copyright © 2011 Francis Y. M. Choy and Tessa N. Campbell. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Gaucher disease is an inherited disorder caused by a deficiency in the lysosomal hydrolase glucocerebrosidase. There is a wide spectrum of clinical presentations, with the most common features being hepatosplenomegaly, skeletal disease, and cytopenia. Gaucher disease has been classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (nonneuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). The two main treatment options include enzyme replacement therapy and substrate reduction therapy. Recently, discussion has escalated around the association of Gaucher disease and cancer, with conflicting reports as to whether Gaucher patients have an increased risk of malignancy. In this review, we present both the concept and controversy surrounding the association of Gaucher disease with cancer.