PDF(Pubmed)
Abstract：
Desmoid tumors (DT) represent the second high risk of tumor in familial adenomatous polyposis (FAP) patients. Although FAP-associated DTs (FAP-DT) are caused by germline mutations in the adenomatous polyposis coli (APC) gene, extracolonic manifestations, sex, family history, genotype, and the ileal pouch anal anastomosis procedure are all linked to the development of DTs in FAP patients. Multidisciplinary management has replaced aggressive surgery as the preferred treatment of DTs. There is growing evidence to support the use of active surveillance strategy as first-line treatment for FAP-DT patients. Radiotherapy for intra-abdominal desmoids is now rarely used because of severe late toxicity. Pharmacotherapy, however, represents a promising future with the improvement of traditional cytotoxic drugs and the investigation of targeted drugs. Although nonsurgery treatment has been used widely nowadays, surgery remains the mainstay when symptomatic or life-threatening DTs are present. Further research will be needed for more optimal clinical practice.
摘要：
纤维瘤（DT）是家族性腺瘤性息肉病（FAP）患者中第二高的肿瘤风险。尽管FAP相关的DTs（FAP-DT）是由腺瘤性结肠息肉病（APC）基因的种系突变引起的，结肠外表现，性别,家族史,基因型，回肠袋肛门吻合术都与FAP患者DTs的发展有关。多学科管理已取代积极手术成为DTs的首选治疗方法。越来越多的证据支持使用主动监测策略作为FAP-DT患者的一线治疗。由于严重的晚期毒性，现在很少使用腹内桥骨的放射疗法。药物治疗,然而,随着传统细胞毒性药物的改进和靶向药物的研究，代表了一个有希望的未来。虽然目前非手术治疗已被广泛使用,当出现有症状或危及生命的DTs时,手术仍是主要手段.进一步的研究将需要更优化的临床实践。
