Gaucher Disease and Cancer: Concept and Controversy
Date
2011-04
Authors
Choy, Francis Y.M.
Campbell, Tessa N.
Journal Title
Journal ISSN
Volume Title
Publisher
International Journal of Cell Biology
Abstract
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.
Description
Keywords
Citation
Choy, F.Y.M. & Campbell, T.N. (2011). Gaucher Disease and Cancer: Concept and Controversy. International Journal of Cell Biology, 2011, 6 pages. http://dx.doi.org/10.1155/2011/150450