Division of Digestive and Liver Disease, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
Department of Internal Medicine, Woodhull Medical and Mental Health Center, Brooklyn, New York, USA.
J Gastroenterol Hepatol. 2022 Jun;37(6):973-982. doi: 10.1111/jgh.15848. Epub 2022 Apr 13.
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.
患有先天性免疫缺陷（IEI）或原发性免疫缺陷的人可能存在早发性胃肠道（GI）癌症的潜在风险因素。
我们在三个数据库（MEDLINE、SCOPUS 和 EMBASE）中系统地回顾了所有具有 IEI 和 GI 癌症临床诊断的病例。共有 76 篇符合纳入标准的出版物被确定，对 149 例病例的数据进行了分析。我们还在我们的机构癌症登记处搜索了此类病例。
我们共确定了 149 例同时患有 IEI 和 GI 癌症的患者，其中 95 例表现为胃癌，13 例为小肠癌，35 例为结直肠癌，6 例为未明确癌症或其他部位癌症。胃腺癌和结肠腺癌最为常见。基于 SEER 数据库，IEI 患者的胃癌和结直肠癌发病年龄明显早于普通人群。与胃肠道癌症相关的最常见 IEI 是普通可变免疫缺陷（CVID）。约 12%的患者有分子遗传学诊断，最常涉及的三个基因是 ATM、CARMIL2 和 CTLA4。体液免疫受损和 EBV 感染常被报道为 IEI 患者早发性 GI 癌症的潜在因素。我们从一项回顾性调查中发现了一例 CVID 患者，该患者早发胃腺癌、复发性腹泻和胃肠道 CMV 感染。
IEI 患者应被视为早发性 GI 癌症的高危人群，因此应提前进行癌症筛查。
