Kojima Tadahiro, Kurachi Kiyotaka, Iwaizumi Moriya, Tatsuta Kyota, Sugiyama Kosuke, Akai Toshiya, Sakata Mayu, Morita Yoshifumi, Kikuchi Hirotoshi, Hiramatsu Yoshihiro, Takeuchi Hiroya
Department of Surgery.
Department of Laboratory Medicine.
J Clin Gastroenterol. 2025 Aug 1;59(7):583-591. doi: 10.1097/MCG.0000000000002071.
To clarify the characteristics of desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy.
Few comprehensive reports have been published on desmoid tumors in Asian patients with familial adenomatous polyposis.
This retrospective study included the data of 81 patients with familial adenomatous polyposis who underwent surgery between 1978 and 2021. The adenomatous polyposis coli gene mutation sites, risk factors, and long-term outcomes associated with desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy were analyzed.
No association was observed between the gene mutation sites and desmoid tumor development in 40 patients who underwent genetic analyses. The rate of desmoid tumor development was 30.3% in 66 patients. Multivariate analysis revealed that age below 32 years at colectomy (hazard ratio = 5.491, 95% confidence interval 1.820-16.50, P < 0.001) and familial adenomatous polyposis-related malignancies other than colorectal cancer (hazard ratio = 5.574, 95% confidence interval 2.075-14.98, P < 0.001) were independent risk factors for desmoid tumor development following colectomy. The 10-year disease-specific survival and overall survival rates for desmoid tumors were 92.9% and 76.9%, respectively. The median surveillance duration was 90 months.
Adenomatous polyposis coli gene mutation sites alone were not considered a factor for delaying or avoiding colectomy to prevent desmoid tumors in Japanese patients with familial adenomatous polyposis. The timing of colectomy and careful surveillance should be considered for managing patients at a high risk of developing desmoid tumors. Desmoid tumors in patients with familial adenomatous polyposis did not significantly impact prognosis, and pharmacological treatments are important for disease control.
明确日本家族性腺瘤性息肉病患者结肠切除术后硬纤维瘤的特征。
关于亚洲家族性腺瘤性息肉病患者硬纤维瘤的综合报道较少。
这项回顾性研究纳入了1978年至2021年间接受手术的81例家族性腺瘤性息肉病患者的数据。分析了日本家族性腺瘤性息肉病患者结肠切除术后与硬纤维瘤相关的腺瘤性息肉病（APC）基因突变位点、危险因素和长期预后。
在40例接受基因分析的患者中，未观察到基因突变位点与硬纤维瘤发生之间的关联。66例患者中硬纤维瘤的发生率为30.3%。多因素分析显示，结肠切除时年龄小于32岁（风险比=5.491，95%置信区间1.820 - 16.50，P<0.001）和除结直肠癌外的家族性腺瘤性息肉病相关恶性肿瘤（风险比=5.574，95%置信区间2.075 - 14.98，P<0.001）是结肠切除术后硬纤维瘤发生的独立危险因素。硬纤维瘤的10年疾病特异性生存率和总生存率分别为92.9%和76.9%。中位监测时间为90个月。
对于日本家族性腺瘤性息肉病患者，仅APC基因突变位点不被认为是延迟或避免结肠切除以预防硬纤维瘤的因素。对于硬纤维瘤发生风险高的患者，应考虑结肠切除的时机并进行仔细监测。家族性腺瘤性息肉病患者的硬纤维瘤对预后无显著影响，药物治疗对疾病控制很重要。
