Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.

IF 7.2 2区 医学 Q1 IMMUNOLOGY Journal of Clinical Immunology Pub Date : 2024-10-28 DOI:10.1007/s10875-024-01810-w
Saba Fekrvand, Hassan Abolhassani, Zahra Hamidi Esfahani, Najmeh Nameh Goshay Fard, Mahboube Amiri, Helia Salehi, Amir Almasi-Hashiani, Ali Saeedi-Boroujeni, Nazanin Fathi, Maryam Mohtashami, Azadehsadat Razavi, Arash Heidari, Gholamreza Azizi, Shaghayegh Khanmohammadi, Milad Ahangarzadeh, Kiarash Saleki, Gholamreza Hassanpour, Nima Rezaei, Reza Yazdani
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Abstract

Background: Patients with inborn errors of immunity (IEI) are susceptible to developing cancer due to defects in the immune system. The prevalence of cancer is higher in IEI patients compared to the immunocompetent population and cancers are considered as an important and common cause of death in IEI patients.

Objectives: To systematically review demographic, genetic and cancer-related data of IEI patients with a history of malignancy. Moreover, we performed a meta-analysis aiming to determine the frequency of cancer in patients with different types of IEI.

Methods: We conducted electronic searches on Embase, Web of Science, PubMed, and Scopus (until September 2023) introducing terms related to IEI and cancer. Studies with human subjects with confirmed IEI who had developed at least one malignancy during their lifetime were included.

Results: A total number of 4607 IEI patients with a cancer history were included in the present study. Common variable immunodeficiency (CVID) had the highest number of reported cases (1284 cases), mainly due to a higher relative proportion of patients with predominantly antibody deficiencies (PAD) and their increased life expectancy contributing to the higher detection and reporting of cancers among these patients. The most common malignancy was hematologic/blood cancers (3026 cases, mainly diffuse large B cell lymphoma). A total number of 1173 cases (55.6%) succumbed to cancer, with the highest rate of bone marrow failure (64.9%). Among the patients with monogenic defects in IEI-associated genes, the majority of cases had ATM deficiency (926 cases), but the highest cancer frequency rate belonged to NBS1 deficiency (50.5%). 1928 cases out of total 4607 eligible cases had detailed data to allow further statistical analysis that revealed BRCA2 deficiency had the earliest cancer development (~ 38 months), lowest cure frequency, and highest fatality rate (85%), while ATM deficiency had the lowest cure frequency and highest fatality rate (72%) among total cases reviewed with exclusion of Fanconi anemia.

Conclusion: The overall reported cancer frequency in the cases reviewed with and without exclusion of Fanconi anemia was 11.1% (95% confidence interval: 9.8-12.5%) and 12.0% (95% confidence interval: 10.6-13.5%), respectively. Our study revealed that the incidence of cancer is significantly dependent on the molecular and pathway defects in IEI patients, and individualized early screening and appropriate treatment, might improve the prognosis of these patients.

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先天性免疫错误的癌症趋势:系统回顾与元分析》。
背景:先天性免疫错误(IEI)患者因免疫系统缺陷而易患癌症。与免疫功能健全的人群相比,先天性免疫缺陷患者的癌症发病率较高,癌症被认为是导致先天性免疫缺陷患者死亡的一个重要且常见的原因:系统回顾有恶性肿瘤病史的 IEI 患者的人口统计学、遗传学和癌症相关数据。此外,我们还进行了一项荟萃分析,旨在确定不同类型 IEI 患者罹患癌症的频率:我们在 Embase、Web of Science、PubMed 和 Scopus(截至 2023 年 9 月)上进行了电子检索,引入了与 IEI 和癌症相关的术语。研究对象包括确诊为 IEI 且一生中至少罹患过一种恶性肿瘤的患者:本研究共纳入了 4607 名有癌症病史的 IEI 患者。常见变异性免疫缺陷病(CVID)的报告病例数最多(1284 例),这主要是由于主要抗体缺乏症(PAD)患者的相对比例较高,而且这些患者的预期寿命较长,因此在这些患者中发现和报告癌症的比例较高。最常见的恶性肿瘤是血液/血癌(3026 例,主要是弥漫大 B 细胞淋巴瘤)。共有 1173 例(55.6%)患者死于癌症,其中骨髓衰竭的比例最高(64.9%)。在 IEI 相关基因单基因缺陷患者中,大多数病例为 ATM 缺乏症(926 例),但癌症发病率最高的是 NBS1 缺乏症(50.5%)。在所有符合条件的 4607 例病例中,有 1928 例病例的详细数据可供进一步统计分析,分析结果显示,BRCA2 缺乏症的癌症发病时间最早(约 38 个月),治愈率最低,死亡率最高(85%),而在排除范可尼贫血症的情况下,ATM 缺乏症的治愈率最低,死亡率最高(72%):结论:在排除范可尼贫血和未排除范可尼贫血的病例中,报告的总体癌症发病率分别为 11.1%(95% 置信区间:9.8-12.5%)和 12.0%(95% 置信区间:10.6-13.5%)。我们的研究表明,癌症的发病率与 IEI 患者的分子和通路缺陷密切相关,个体化的早期筛查和适当治疗可能会改善这些患者的预后。
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来源期刊
CiteScore
12.20
自引率
9.90%
发文量
218
审稿时长
2 months
期刊介绍: The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.
期刊最新文献
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia. Endophilin A2 Deficiency Impairs Antibody Production in Humans. Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome. Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party. Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.
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