Canovai Emilio, Upponi Sarah, Amin Irum
Cambridge Centre for Intestinal Rehabilitation and Transplant (CamCIRT), Cambridge, UK.
Oxford Transplant Centre, Churchill Hospital, Oxford University Hospitals, Headington, UK.
Fam Cancer. 2025 May 3;24(2):40. doi: 10.1007/s10689-025-00468-6.
In patients with Familial Adenomatous Polyposis (FAP), large desmoid tumors can develop all over the body. However, the most frequent presentation is as large intra-abdominal masses, usually located in the mesentery of the small bowel. From there, they tend to grow and invade both the abdominal wall and/or the retroperitoneal structures. This can cause life-threatening complications such as recurrent abdominal sepsis with fistulation and damage to vital organs. In selected patients, the only option may be radical resection and replacement by intestinal transplantation (ITx). We aimed to review all the current literature on ITx for FAP-related desmoids and provide an update from the largest single-center experience (2007-2024). All patients undergoing ITx for FAP-related desmoid were included. Between 2007 and 2024, 166 ITx was performed in 158 patients at Addenbrooke's Hospital, Cambridge, UK. Of these, 20 (12%) were for desmoid associated with FAP (10 modified multivisceral transplants, 8 isolated ITx and 2 liver-containing grafts). The five-year all-cause patient survival was 92%, median follow-up was 4.3 years. As the patients presented with very advanced disease, many technical challenges were faced such as: extensive ureteric involvement, abdominal wall fistulation, management of previously formed ileo-anal pouches and extra-abdominal recurrences. Graft selection was another evolving issue, as foregut resection- versus sparing techniques require careful preoperative risk stratification due to increased long-term cancer risk in FAP patients. For certain patients with advanced FAP/desmoid disease, ITx can allow for a radical resection with excellent survival and functional outcomes. However, there is a high degree of initial morbidity associated with the operation and patients should be appropriately counselled. Graft selection and degree of native organ resection requires a careful balanced discussion.
在家族性腺瘤性息肉病（FAP）患者中，全身可出现巨大的硬纤维瘤。然而，最常见的表现是巨大的腹腔内肿块，通常位于小肠系膜。从那里开始，它们往往会生长并侵犯腹壁和/或腹膜后结构。这可能导致危及生命的并发症，如反复发生的腹部脓毒症伴瘘管形成以及重要器官受损。在部分患者中，唯一的选择可能是根治性切除并进行肠道移植（ITx）替代。我们旨在回顾目前所有关于FAP相关硬纤维瘤的ITx文献，并根据最大的单中心经验（2007 - 2024年）提供最新情况。纳入所有因FAP相关硬纤维瘤接受ITx的患者。2007年至2024年期间，英国剑桥阿登布鲁克医院对158例患者进行了166次ITx。其中，20例（12%）是针对与FAP相关的硬纤维瘤（10例改良多脏器移植、8例孤立性ITx和2例含肝脏移植物）。全因患者五年生存率为92%，中位随访时间为4.3年。由于患者疾病进展非常严重，面临许多技术挑战，如：输尿管广泛受累、腹壁瘘管形成、既往回肠肛管袋的处理以及腹外复发。移植物选择是另一个不断发展的问题，由于FAP患者长期癌症风险增加，前肠切除与保留技术需要仔细的术前风险分层。对于某些晚期FAP/硬纤维瘤病患者，ITx可以实现根治性切除，具有良好的生存和功能结果。然而，手术初期发病率较高，应给予患者适当的咨询。移植物选择和原位器官切除程度需要进行仔细且平衡的讨论。
