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Published on: May 1, 2015
Gaucher disease and myeloma.
Robert Ayto1, Derralynn A Hughes
1Dept Haematology, North West London NHS Trust London UK.
Critical Reviews in Oncogenesis
|March 21, 2013
Summary
Gaucher disease (GD), a lysosomal storage disorder, may increase cancer risk due to impaired tumor surveillance. Research is needed to understand cancer development and GBA1 mutation carrier status in GD patients.
Area of Science:
- Biochemistry
- Oncology
- Genetics
Background:
- Gaucher disease (GD) is the most common lysosomal storage disorder, stemming from glucocerebrosidase deficiency.
- GD commonly presents with skeletal issues, cytopenias, and enlarged spleen/liver.
- An elevated cancer risk, particularly multiple myeloma, has been reported in GD patients.
Purpose of the Study:
- To review cancer epidemiology in Gaucher disease.
- To explore potential biological mechanisms linking GD to carcinogenesis.
- To identify future research directions for malignancy in GD.
Main Methods:
- Literature review of cancer epidemiology in GD.
- Discussion of proposed biological mechanisms of carcinogenesis in the GD microenvironment.
- Identification of knowledge gaps regarding GD and cancer risk.
Main Results:
- GD is associated with impaired tumor surveillance due to macrophage and lymphoid abnormalities.
- Factors like glucosylceramide deposition and immune dysregulation may promote malignant clone growth in GD.
- The role of GBA1 mutation carrier status in cancer risk remains undetermined.
Conclusions:
- GD's impact on tumor surveillance and carcinogenesis warrants further investigation.
- Understanding the interplay between GD pathophysiology and cancer development is crucial.
- Future research should focus on clarifying cancer risks in GD patients and carriers.
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