Gaucher Disease and Cancer: Concept and Controversy

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 b...

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Main Authors: Francis Y. M. Choy, Tessa N. Campbell
Format: Article
Language:English
Published: Wiley 2011-01-01
Series:International Journal of Cell Biology
Online Access:http://dx.doi.org/10.1155/2011/150450
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author Francis Y. M. Choy
Tessa N. Campbell
author_facet Francis Y. M. Choy
Tessa N. Campbell
author_sort Francis Y. M. Choy
collection DOAJ
description 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.
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spelling doaj-art-7e2d42bcf645453e9f1097a5cd3cf0f72025-08-20T03:35:33ZengWileyInternational Journal of Cell Biology1687-88761687-88842011-01-01201110.1155/2011/150450150450Gaucher Disease and Cancer: Concept and ControversyFrancis Y. M. Choy0Tessa N. Campbell1Department of Biology, Centre for Biomedical Research, University of Victoria, P.O. Box 3020, Station CSC, Victoria, BC, V8W 3N5, CanadaTNC Scientific Consulting, Calgary, AB, CanadaGaucher 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.http://dx.doi.org/10.1155/2011/150450
spellingShingle Francis Y. M. Choy
Tessa N. Campbell
Gaucher Disease and Cancer: Concept and Controversy
International Journal of Cell Biology
title Gaucher Disease and Cancer: Concept and Controversy
title_full Gaucher Disease and Cancer: Concept and Controversy
title_fullStr Gaucher Disease and Cancer: Concept and Controversy
title_full_unstemmed Gaucher Disease and Cancer: Concept and Controversy
title_short Gaucher Disease and Cancer: Concept and Controversy
title_sort gaucher disease and cancer concept and controversy
url http://dx.doi.org/10.1155/2011/150450
work_keys_str_mv AT francisymchoy gaucherdiseaseandcancerconceptandcontroversy
AT tessancampbell gaucherdiseaseandcancerconceptandcontroversy