Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan; Cancer Screening Division, Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan; Division of Gastroenterology and Hepatology, Toho University Omori Medical Center, Tokyo, Japan.
Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan; Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
Gastrointest Endosc. 2023 Jan;97(1):59-68.e7. doi: 10.1016/j.gie.2022.08.042. Epub 2022 Sep 7.
In familial adenomatous polyposis (FAP), neoplastic lesions outside the colon have become increasingly important. The genotype-phenotype correlation has been established for duodenal polyps, and regular screening is recommended. However, this correlation remains unclear for small-intestinal lesions, except for reports on the relationship between their occurrence and Spigelman stage. Here, we used small-bowel capsule endoscopy (SBCE) to investigate the genotype-phenotype correlation of small-intestinal polyps in FAP.
The genotype-phenotype correlation of small-intestinal polyps was investigated in patients with FAP who underwent SBCE, Esophagogastroduodenoscopy (EGD), and adenomatous polyposis coli (APC) gene analysis. Of 64 patients with FAP who underwent SBCE, 41 were included in the final analysis, 4 did not undergo a complete small intestine examination, and 19 did not undergo genetic analysis.
The prevalence (median number) of small-intestinal polyps by Spigelman stage was 26% (1.5), 0% (0), 44% (5), 60% (4), and 73% (25.5) for stages 0 to IV, respectively. Significantly more small-intestinal polyps were found in Spigelman stage III and IV groups than in the stage 0 group (P < .05). The APC variant was negative for 6 patients (15%), and the sites associated with more than 5 small-intestinal polyps were codons 278, 1062, 1114, 1281, 1307, 1314, and 1504.
In FAP patients, SBCE surveillance is potentially recommended for patients with pathogenic variants in the APC gene at codons 278 and 1062 to 1504 or with Spigelman stage III or higher.
在家族性腺瘤性息肉病（FAP）中，结肠外的肿瘤病变变得越来越重要。已经建立了十二指肠息肉的基因型-表型相关性，建议进行常规筛查。然而，除了关于其发生与 Spigelman 分期之间关系的报道外，对于小肠病变的这种相关性仍然不清楚。在这里，我们使用小肠胶囊内镜（SBCE）研究 FAP 患者小肠息肉的基因型-表型相关性。
对接受 SBCE、食管胃十二指肠镜检查（EGD）和 APC 基因分析的 FAP 患者的小肠息肉的基因型-表型相关性进行了研究。在接受 SBCE 的 64 例 FAP 患者中，有 41 例被纳入最终分析，4 例未完成小肠完整检查，19 例未进行基因分析。
按 Spigelman 分期，小肠息肉的患病率（中位数数量）分别为 0 期 26%（1.5）、0%（0）、1 期 44%（5）、2 期 60%（4）和 3 期 73%（25.5）。Spigelman 3 期和 4 期组的小肠息肉明显多于 0 期组（P<.05）。6 例（15%）患者 APC 变异为阴性，与超过 5 个小肠息肉相关的部位为密码子 278、1062、1114、1281、1307、1314 和 1504。
在 FAP 患者中，对于 APC 基因密码子 278 和 1062 至 1504 处存在致病性变异或 Spigelman 分期为 3 期或更高的患者，建议进行 SBCE 监测。
