Rausa Emanuele, Duroni Valeria, Ferrari Davide, Signoroni Stefano, Ciniselli Chiara M, Lauricella Sara, Brignola Clorinda, Ricci Maria T, Gronchi Alessandro, Verderio Paolo, Vitellaro Marco
Unit of Hereditary Digestive Tract Tumours, Fondazione IRCCS Istituto Nazionale dei Tumouri, Milan, Italy.
Colorectal Surgery Division, Fondazione IRCCS Istituto Nazionale dei Tumouri, Milan, Italy.
BJS Open. 2024 Dec 30;9(1). doi: 10.1093/bjsopen/zrae148.
Familial adenomatous polyposis is a cancer-predisposing syndrome caused by germline pathogenic variants of the adenomatous polyposis coli gene, leading to numerous colorectal polyps and a high risk of colorectal cancer. Desmoid tumours have become significant in the management of familial adenomatous polyposis after a colectomy, yet the exact incidence remains undetermined due to a lack of dedicated surveillance.
This retrospective study accessed data from the prospectively maintained Hereditary Digestive Tumours Registry from 2000 to 2023. Desmoid-free survival was analysed using Cox regression and Kaplan-Meier curves.
A total of 202 patients with familial adenomatous polyposis who underwent colorectal surgery were enrolled. Of the patients, 21 (10.4%) developed intra-abdominal desmoid tumours after surgery. Desmoid tumours were associated with surgical procedure, histology of cancer at the time of surgery, and family history of intra-abdominal desmoid tumours. The overall desmoid-free survival probability at a median follow-up of 84 months was 90%. Histology of cancer at the time of surgery (HR 0.25 (95% c.i. 0.10 to 0.59)), family history of intra-abdominal desmoid tumours (HR 2.92 (95% c.i. 1.22 to 6.97)), an open approach compared with a laparoscopic approach (HR 2.43 (95% c.i. 1.03 to 5.73)), and a proctocolectomy compared with a rectal-sparing total colectomy (HR 3.01 (95% c.i. 1.28 to 7.10)) emerged as significant prognostic factors affecting desmoid-free survival.
A minimally invasive rectal-sparing total colectomy appears protective against the development of desmoid tumours. Early surgery does not seem to increase desmoid tumour risk. A dedicated surveillance regimen for desmoid tumours in patients with familial adenomatous polyposis is needed to improve outcomes and quality of life.
家族性腺瘤性息肉病是一种由腺瘤性息肉病 coli 基因的种系致病性变异引起的癌症易患综合征，会导致大量结直肠息肉以及患结直肠癌的高风险。在结肠切除术后，硬纤维瘤在家族性腺瘤性息肉病的管理中变得至关重要，但由于缺乏专门的监测，其确切发病率仍未确定。
这项回顾性研究获取了 2000 年至 2023 年前瞻性维护的遗传性消化肿瘤登记处的数据。使用 Cox 回归和 Kaplan-Meier 曲线分析无硬纤维瘤生存期。
共纳入 202 例行结直肠手术的家族性腺瘤性息肉病患者。其中，21 例（10.4%）术后发生腹腔内硬纤维瘤。硬纤维瘤与手术方式、手术时癌症的组织学类型以及腹腔内硬纤维瘤家族史有关。在中位随访 84 个月时，总体无硬纤维瘤生存概率为 90%。手术时癌症的组织学类型（风险比 0.25（95%置信区间 0.10 至 0.59））、腹腔内硬纤维瘤家族史（风险比 2.92（95%置信区间 1.22 至 6.97））、与腹腔镜手术相比的开放手术方式（风险比 2.43（95%置信区间 1.03 至 5.73））以及与保留直肠的全结肠切除术相比的直肠结肠切除术（风险比 3.01（95%置信区间 1.28 至 7.10））是影响无硬纤维瘤生存的显著预后因素。
微创保留直肠的全结肠切除术似乎对硬纤维瘤的发生有保护作用。早期手术似乎不会增加硬纤维瘤风险。需要为家族性腺瘤性息肉病患者制定专门的硬纤维瘤监测方案，以改善治疗效果和生活质量。
