ArticleInternal medicine journal2025
A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours.
Article in Internal medicine journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer.Cell death discovery · 2026Review
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGaucher disease (GD) has been variably associated with cancer risk, with conflicting reports in the literature. Understanding the true cancer burden is critical for patient care and genetic counselling.
aimTo determine the overall and site-specific cancer risk in a large, single-centre GD cohort over three decades.
methodsThis is a retrospective cohort study based at a national referral centre. Medical records of 709 GD patients aged >20 years at Shaare Zedek Medical Center were reviewed. Cancer diagnoses were confirmed using the Israel National Cancer Register. Cancer-free survival was estimated via Kaplan-Meier analysis. Standardised incidence ratios (SIRs) compared observed versus expected cancer cases.
resultsSixty-four (9%) patients were diagnosed with cancer. The most common malignancies were breast, non-Hodgkin lymphoma (NHL) and colon cancer. The overall incidence was 3.7 (95% confidence interval (CI): 2.6-4.8) per 1000 person-years. Cancer risk correlated with age but not gender, genotype, splenectomy status or GD therapy. The overall SIR was 0.9 (95% CI: 0.6-1.1), indicating no increased overall cancer risk. However, SIRs for haematological malignancies, including NHL and multiple myeloma, were elevated.
conclusionsGD patients do not have an increased general cancer risk, though vigilance for haematological malignancies is warranted. Previous literature might have overestimatee risk due to selection bias. These findings support tailored screening strategies and may alleviate patient concerns.
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