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Malignancies and monoclonal gammopathy in G aucher disease; a systematic review of the literature
Author(s) -
Arends Maarten,
Dussen Laura,
Biegstraaten Marieke,
Hollak Carla E. M.
Publication year - 2013
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12335
Subject(s) - medicine , monoclonal gammopathy of undetermined significance , multiple myeloma , disease , population , cancer , monoclonal , immunology , oncology , gastroenterology , pathology , antibody , monoclonal antibody , environmental health
Summary Gaucher disease is an autosomal, recessively inherited, lysosomal storage disease, which has been associated with gammopathies and malignancies. This report represents the results of a systematic review of the literature on the prevalence of monoclonal gammopathies and malignancies in Gaucher disease. A P ub M ed search identified 365 studies, of which 80 reported on concomitant G aucher disease and malignancies and/or gammopathies (15 cohort/cross sectional studies, and 65 case reports/series). Based on these studies, we conclude that compared to the general population, G aucher patients have an increased risk of cancer in general [pooled relative risk of 1·70 (95% confidence interval 1·27–2·31)], and multiple myeloma and haematological malignancies in particular (estimated risk between 25·0 and 51·1 and 3·5 and 12·7, respectively). In addition, an increased risk has been reported for hepatocellular carcinoma and renal cell carcinoma. Several factors have been hypothesized to play a role in the pathophysiology. These include: splenectomy, immune dysregulation, endoplasmic reticulum stress, genetic modifiers, altered iron metabolism and insulin resistance.