Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans.
Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans.
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DOI：
10.1111/jgh.15848
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发表时间：
2022-06
影响因子：
4.1
通讯作者：
中科院分区：
文献类型：
--
作者：
患有先天性免疫缺陷（IEI）或原发性免疫缺陷的人可能与早发性胃肠道（GI）癌的潜在风险因素相关。我们系统地回顾了三个数据库（MEDLINE、SCOPUS和EMBASE）中所有临床诊断为IEI和GI癌症的病例。总共确定了76篇符合我们纳入标准的出版物，并分析了149例病例的数据。我们还搜索了我们的机构癌症登记处，寻找此类病例。我们确定了149例同时患有IEI和GI癌症的患者，其中95例为胃癌，13例为小肠癌，35例为结直肠癌，6例为未指明的癌症或其他部位的癌症。胃癌和结肠腺癌是最常见的。根据SEER数据库，对于胃癌和结直肠癌，IEI患者的发病年龄明显早于一般人群。常见变异型免疫缺陷（CVID）是与胃肠道癌相关的最常见IEI。大约12%的患者有分子遗传学诊断，三个最常见的相关基因是ATM，CARMIL2和CTLA4。体液免疫受损和EB病毒（EBV）感染经常被报告为IEI患者早发性GI癌的潜在潜在因素。我们在一项回顾性调查中发现了一例CVID合并早发性胃腺癌、复发性腹泻和胃肠道CMV感染的患者。IEI患者应被视为有早发性GI癌的风险，因此应在较早的年龄进行癌症筛查。
Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be associated with a potential risk factor for early-onset gastrointestinal (GI) cancer. We systematically reviewed all cases with clinical diagnoses of both an IEI and a GI cancer in three databases (MEDLINE, SCOPUS, and EMBASE). In total, 76 publications satisfying our inclusion criteria were identified, and data for 149 cases were analyzed. We also searched our institutional cancer registry for such cases. We identified 149 patients with both an IEI and a GI cancer, 95 presented gastric cancer, 13 small bowel cancer, 35 colorectal cancer, and 6 had an unspecified cancer or cancer at another site. Gastric and colon adenocarcinomas were the most common. For both gastric and colorectal cancers, age at onset was significantly earlier in patients with IEIs than in the general population, based on the SEER database. Common variable immunodeficiency (CVID) was the most common IEI associated with gastrointestinal cancer. About 12% of patients had molecular genetic diagnoses, the three most frequently implicated genes being ATM, CARMIL2, and CTLA4. Impaired humoral immunity and Epstein–Barr virus (EBV) infection were frequently reported as factors potentially underlying early-onset GI cancers in patients with IEIs. We identified one patient with CVID and early-onset gastric adenocarcinoma, recurrent diarrhea, and gastrointestinal CMV infection from a retrospective survey. Patients with IEIs should be considered at risk of early-onset GI cancers and should therefore undergo cancer screening at an earlier age.
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影响因子：
9.1
作者：
CUNNINGHAMRUNDLES, C
通讯作者：
CUNNINGHAMRUNDLES, C
DOI：
10.1016/j.clinre.2011.06.001
发表时间：
2011-10-01
影响因子：
2.7
作者：
Benjazia, Elhem;Turki, Hajer;Braham, Ahlem
通讯作者：
Braham, Ahlem
DOI：
10.1097/00005176-198805000-00025
发表时间：
1988-05-01
影响因子：
2.9
作者：
CONLEY, ME;ZIEGLER, MM;BOYLE, JT
通讯作者：
BOYLE, JT
影响因子：
1.2
作者：
De Petris, Giovanni;Dhungel, Bal M.;Chang, Yu-Hui H.
通讯作者：
Chang, Yu-Hui H.
影响因子：
4.6
作者：
AuBuchon, J. P.;de Wildt-Eggen, J.;Dumont, L. J.
通讯作者：
Dumont, L. J.