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家族性腺瘤性息肉病中硬纤维瘤的最新进展与争议

Updates and controversies for desmoids in familial adenomatous polyposis.

作者信息

Aoun Rami James N, Kalady Matthew F

机构信息

Division of Colorectal Surgery, Department of Surgery, The James Comprehensive Cancer Center, The Ohio State University Wexner Medical Center, 410 W 10th Ave, Doan Hall 737B, Columbus, OH, 43210, USA.

出版信息

Fam Cancer. 2025 Jun 20;24(3):56. doi: 10.1007/s10689-025-00481-9.

Abstract

Desmoids are rare non-cancerous fibrous growths with variable behavior ranging from slow indolent growth or even regression, to locally aggressive and progressive tumors that can cause significant morbidity or mortality. Approximately 10-15% of patients with familial adenomatous polyposis (FAP) develop desmoid disease, most commonly located in the abdomen, on the abdominal wall, or in limbs. The majority of desmoids in FAP occur after abdominal surgery. Management is quite challenging and employing a multidisciplinary team at a specialized center is important for success. New treatment modalities have emerged, including tyrosine kinase inhibitors, γ-secretase inhibitors, and ablation techniques, complementing the existing repertoire of therapies such as NSAIDs, anti-hormonal therapy, chemotherapy, radiotherapy, and surgical interventions. Surgery remains the treatment of choice for easily resectable abdominal wall desmoids and intra-abdominal desmoids that cause intractable symptoms, or progressive disease despite alternate therapies, or complications from the invasion of nearby organs. When considering prophylactic colectomies in FAP patients, it's essential to account for the desmoidogenic potential of surgical interventions, especially in high-risk individuals with a positive family history of desmoids, presence of extracolonic manifestations and carriers of certain genotypes. Given the rarity of the disease and the variability in both anatomical presentation and clinical course, desmoids should be managed by a multidisciplinary team capable of coordinating patient specific care and optimizing treatment options.

摘要

硬纤维瘤是一种罕见的非癌性纤维性肿瘤,其行为具有多样性,从缓慢的惰性生长甚至消退,到具有局部侵袭性和进展性的肿瘤,可导致严重的发病率或死亡率。大约10%-15%的家族性腺瘤性息肉病(FAP)患者会发生硬纤维瘤病,最常见于腹部、腹壁或四肢。FAP患者中的大多数硬纤维瘤发生在腹部手术后。治疗颇具挑战性,在专业中心组建多学科团队对于治疗成功至关重要。新的治疗方式不断涌现,包括酪氨酸激酶抑制剂、γ-分泌酶抑制剂和消融技术,补充了现有的治疗方法,如非甾体抗炎药、抗激素治疗、化疗、放疗和手术干预。对于易于切除的腹壁硬纤维瘤和引起难治性症状的腹腔内硬纤维瘤,或尽管采用了其他治疗方法仍进展的疾病,或因侵犯附近器官而出现并发症的情况,手术仍然是首选治疗方法。在考虑对FAP患者进行预防性结肠切除术时,必须考虑手术干预导致硬纤维瘤形成的可能性,尤其是在有硬纤维瘤家族史、存在结肠外表现以及某些基因型携带者等高危个体中。鉴于该疾病的罕见性以及解剖学表现和临床病程的变异性,硬纤维瘤应由能够协调患者个体化护理并优化治疗方案的多学科团队进行管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/645b/12181208/62bf42faac71/10689_2025_481_Fig1_HTML.jpg

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