Gaucher Disease and Cancer: Concept and Controversy
Identifieur interne : 000C42 ( Pmc/Curation ); précédent : 000C41; suivant : 000C43Gaucher Disease and Cancer: Concept and Controversy
Auteurs : Francis Y. M. Choy [Canada] ; Tessa N. Campbell [Canada]Source :
- International Journal of Cell Biology [ 1687-8876 ] ; 2011.
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.
Url:
DOI: 10.1155/2011/150450
PubMed: 21760795
PubMed Central: 3132523
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Gaucher Disease and Cancer: Concept and Controversy</title><author><name sortKey="Choy, Francis Y M" sort="Choy, Francis Y M" uniqKey="Choy F" first="Francis Y. M." last="Choy">Francis Y. M. Choy</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Biology, Centre for Biomedical Research, University of Victoria, P.O. Box 3020, Station CSC, Victoria, BC, Canada V8W 3N5</nlm:aff><country>Canada</country><wicri:regionArea>Department of Biology, Centre for Biomedical Research, University of Victoria, P.O. Box 3020, Station CSC, Victoria, BC</wicri:regionArea></affiliation></author><author><name sortKey="Campbell, Tessa N" sort="Campbell, Tessa N" uniqKey="Campbell T" first="Tessa N." last="Campbell">Tessa N. Campbell</name><affiliation wicri:level="1"><nlm:aff id="I2">TNC Scientific Consulting, Calgary, AB, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>TNC Scientific Consulting, Calgary, AB</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21760795</idno><idno type="pmc">3132523</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132523</idno><idno type="RBID">PMC:3132523</idno><idno type="doi">10.1155/2011/150450</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000C42</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000C42</idno><idno type="wicri:Area/Pmc/Curation">000C42</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000C42</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Gaucher Disease and Cancer: Concept and Controversy</title><author><name sortKey="Choy, Francis Y M" sort="Choy, Francis Y M" uniqKey="Choy F" first="Francis Y. M." last="Choy">Francis Y. M. Choy</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Biology, Centre for Biomedical Research, University of Victoria, P.O. Box 3020, Station CSC, Victoria, BC, Canada V8W 3N5</nlm:aff><country>Canada</country><wicri:regionArea>Department of Biology, Centre for Biomedical Research, University of Victoria, P.O. Box 3020, Station CSC, Victoria, BC</wicri:regionArea></affiliation></author><author><name sortKey="Campbell, Tessa N" sort="Campbell, Tessa N" uniqKey="Campbell T" first="Tessa N." last="Campbell">Tessa N. Campbell</name><affiliation wicri:level="1"><nlm:aff id="I2">TNC Scientific Consulting, Calgary, AB, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>TNC Scientific Consulting, Calgary, AB</wicri:regionArea></affiliation></author></analytic><series><title level="j">International Journal of Cell Biology</title><idno type="ISSN">1687-8876</idno><idno type="eISSN">1687-8884</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Harmanci, O" uniqKey="Harmanci O">O Harmanci</name></author><author><name sortKey="Bayraktar, Y" uniqKey="Bayraktar Y">Y Bayraktar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beutler, E" uniqKey="Beutler E">E Beutler</name></author><author><name sortKey="Grabowski, Ga" uniqKey="Grabowski G">GA Grabowski</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fuller, M" uniqKey="Fuller M">M Fuller</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wafaei, Jr" uniqKey="Wafaei J">JR Wafaei</name></author><author><name sortKey="Choy, Fy" uniqKey="Choy F">FY Choy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Choy, Fy" uniqKey="Choy 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Int J Cell Biol</journal-id><journal-id journal-id-type="publisher-id">IJCB</journal-id><journal-title-group><journal-title>International Journal of Cell Biology</journal-title></journal-title-group><issn pub-type="ppub">1687-8876</issn><issn pub-type="epub">1687-8884</issn><publisher><publisher-name>Hindawi Publishing Corporation</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21760795</article-id><article-id pub-id-type="pmc">3132523</article-id><article-id pub-id-type="doi">10.1155/2011/150450</article-id><article-categories><subj-group subj-group-type="heading"><subject>Review Article</subject></subj-group></article-categories><title-group><article-title>Gaucher Disease and Cancer: Concept and Controversy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Choy</surname><given-names>Francis Y. M.</given-names></name><xref ref-type="aff" rid="I1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Tessa N.</given-names></name><xref ref-type="aff" rid="I2"><sup>2</sup></xref></contrib></contrib-group><aff id="I1"><sup>1</sup>Department of Biology, Centre for Biomedical Research, University of Victoria, P.O. Box 3020, Station CSC, Victoria, BC, Canada V8W 3N5</aff><aff id="I2"><sup>2</sup>TNC Scientific Consulting, Calgary, AB, Canada</aff><author-notes><corresp id="cor1">*Francis Y. M. Choy: <email>fchoy@uvic.ca</email></corresp><fn fn-type="other"><p>Academic Editor: Anton M. Jetten</p></fn></author-notes><pub-date pub-type="ppub"><year>2011</year></pub-date><pub-date pub-type="epub"><day>7</day><month>6</month><year>2011</year></pub-date><volume>2011</volume><elocation-id>150450</elocation-id><history><date date-type="received"><day>27</day><month>1</month><year>2011</year></date><date date-type="rev-recd"><day>2</day><month>4</month><year>2011</year></date><date date-type="accepted"><day>15</day><month>4</month><year>2011</year></date></history><permissions><copyright-statement>Copyright © 2011 F. Y. M. Choy and T. N. Campbell.</copyright-statement><copyright-year>2011</copyright-year><license license-type="open-access"><license-p>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.</license-p></license></permissions><abstract><p>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.</p></abstract></article-meta></front><floats-group><table-wrap id="tab1" position="float"><label>Table 1</label><caption><p>Examples of reported associations of Gaucher disease with multiple myeloma. *Note: the number in the bracket represents the reference number in the current Choy and Campbell publication.</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="1" colspan="1">Date</th><th align="left" rowspan="1" colspan="1">Title</th><th align="left" rowspan="1" colspan="1">Authors</th></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1">1965</td><td align="left" rowspan="1" colspan="1">Coincidence of multiple myeloma with Gaucher disease</td><td align="left" rowspan="1" colspan="1">Pinkhas et al. [<xref ref-type="bibr" rid="B15">15</xref>]*</td></tr><tr><td align="left" rowspan="1" colspan="1">1968</td><td align="left" rowspan="1" colspan="1">Immunoglobulin anomalies in Gaucher disease: Report of 16 cases</td><td align="left" rowspan="1" colspan="1">Pratt et al. [<xref ref-type="bibr" rid="B16">16</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1979</td><td align="left" rowspan="1" colspan="1">Nonsecretory IgD-kappa multiple myeloma in a patient with Gaucher disease</td><td align="left" rowspan="1" colspan="1">Benjamin et al. [<xref ref-type="bibr" rid="B17">17</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1980</td><td align="left" rowspan="1" colspan="1">Coexistence of IgA myeloma and Gaucher disease</td><td align="left" rowspan="1" colspan="1">Ruestow et al. [<xref ref-type="bibr" rid="B18">18</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1982</td><td align="left" rowspan="1" colspan="1">Coexistence of Gaucher disease and multiple myeloma</td><td align="left" rowspan="1" colspan="1">Garfinkel et al. [<xref ref-type="bibr" rid="B19">19</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1988</td><td align="left" rowspan="1" colspan="1">Sequential appearance of breast carcinoma, multiple myeloma, and Gaucher disease</td><td align="left" rowspan="1" colspan="1">Gal et al. [<xref ref-type="bibr" rid="B20">20</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1991</td><td align="left" rowspan="1" colspan="1">Case report: serendipitous Gaucher disease presenting as elevated erythrocyte sedimentation rate due to monoclonal gammopathy</td><td align="left" rowspan="1" colspan="1">Liel et al. [<xref ref-type="bibr" rid="B21">21</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1993</td><td align="left" rowspan="1" colspan="1">Increased risk of cancer in patients with Gaucher disease</td><td align="left" rowspan="1" colspan="1">Shiran et al. [<xref ref-type="bibr" rid="B22">22</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1995</td><td align="left" rowspan="1" colspan="1">Complex IgA gammopathy in Gaucher disease</td><td align="left" rowspan="1" colspan="1">Shvidel et al. [<xref ref-type="bibr" rid="B23">23</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">1997</td><td align="left" rowspan="1" colspan="1">Multiple myeloma arising from monoclonal gammopathy of undetermined significance in a patient with Gaucher disease</td><td align="left" rowspan="1" colspan="1">Brady et al. [<xref ref-type="bibr" rid="B24">24</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">2000</td><td align="left" rowspan="1" colspan="1">Coincidence of Gaucher disease due to a 1226G/1448C mutation and of an immunoglobulin G lambda multiple myeloma with Bence-Jones proteinuria</td><td align="left" rowspan="1" colspan="1">Harder et al. [<xref ref-type="bibr" rid="B25">25</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">2000</td><td align="left" rowspan="1" colspan="1">Uncommon combination of multiple myeloma in three patients</td><td align="left" rowspan="1" colspan="1">Mateja et al. [<xref ref-type="bibr" rid="B26">26</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">2005</td><td align="left" rowspan="1" colspan="1">Gaucher disease and cancer incidence: a study from the Gaucher's Registry</td><td align="left" rowspan="1" colspan="1">Rosenbloom et al. [<xref ref-type="bibr" rid="B27">27</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">2006</td><td align="left" rowspan="1" colspan="1">Increased incidence of cancer in adult Gaucher disease in Western Europe</td><td align="left" rowspan="1" colspan="1">De Fost et al. [<xref ref-type="bibr" rid="B28">28</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">2009</td><td align="left" rowspan="1" colspan="1">The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients</td><td align="left" rowspan="1" colspan="1">Taddei et al. [<xref ref-type="bibr" rid="B29">29</xref>]</td></tr><tr><td align="left" rowspan="1" colspan="1">2010</td><td align="left" rowspan="1" colspan="1">Expanding the spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types—correlation with genotype and phenotype</td><td align="left" rowspan="1" colspan="1">Lo et al. [<xref ref-type="bibr" rid="B30">30</xref>]</td></tr></tbody></table></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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