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

IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL
Majdolen Istaiti, Tama Dinur, Ora Paltiel, Barbara Silverman, Shoshana Revel-Vilk, Ari Zimran
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引用次数: 0

Abstract

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.

一个大型的戈谢病患者的长期数据库显示淋巴瘤和骨髓瘤的风险增加,但实体瘤的风险没有增加。
背景:戈谢病(GD)与癌症风险有不同的相关性,文献中有相互矛盾的报道。了解真正的癌症负担对于患者护理和遗传咨询至关重要。目的:在30年的大型单中心GD队列中确定总体和部位特异性癌症风险。方法:这是一项基于国家转诊中心的回顾性队列研究。本文回顾了Shaare Zedek医疗中心709例年龄在bb0 ~ 20岁的GD患者的病历。通过以色列国家癌症登记处确认了癌症诊断。通过Kaplan-Meier分析估计无癌生存期。标准化发病率(SIRs)比较观察到的和预期的癌症病例。结果:64例(9%)患者被诊断为癌症。最常见的恶性肿瘤是乳腺癌、非霍奇金淋巴瘤(NHL)和结肠癌。总发病率为3.7(95%可信区间(CI): 2.6-4.8) / 1000人年。癌症风险与年龄相关,但与性别、基因型、脾切除术状态或GD治疗无关。总体SIR为0.9 (95% CI: 0.6-1.1),表明总体癌症风险没有增加。然而,血液系统恶性肿瘤(包括NHL和多发性骨髓瘤)的SIRs升高。结论:GD患者一般癌症风险没有增加,尽管对血液系统恶性肿瘤保持警惕是必要的。先前的文献可能由于选择偏倚而高估了风险。这些发现支持量身定制的筛查策略,并可能减轻患者的担忧。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Internal Medicine Journal
Internal Medicine Journal 医学-医学:内科
CiteScore
3.50
自引率
4.80%
发文量
600
审稿时长
3-6 weeks
期刊介绍: The Internal Medicine Journal is the official journal of the Adult Medicine Division of The Royal Australasian College of Physicians (RACP). Its purpose is to publish high-quality internationally competitive peer-reviewed original medical research, both laboratory and clinical, relating to the study and research of human disease. Papers will be considered from all areas of medical practice and science. The Journal also has a major role in continuing medical education and publishes review articles relevant to physician education.
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