A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours

Background: Gaucher 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. Aim: To determine the overall and site-specific cancer risk in a large, single-centre GD cohort over three decades. Methods: This 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. Results: Sixty-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. Conclusions: GD 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.