Desmoid tumors (DT) are rare fibroblastic, soft-tissue tumors that do not metastasize but can aggressively infiltrate tissues causing significant chronic discomfort and/or functional impairment. In the pediatric population, the incidence of DT is greatest during infancy and adolescence but can occur at any age. Dysregulated β-catenin, most commonly resulting from mutations in either CTNNB1 or germline APC (adenomatous polyposis coli) drives DT. Most cases are sporadic but some are associated with predisposition syndromes such as familial adenomatous polyposis (FAP). Historically, treatment has been surgery. However, the recurrence rate after surgery can be high. Various systemic cytotoxic chemotherapy regimens used in other soft-tissue sarcomas have been applied to DT with differing results. Given the chronic and rarely life-threatening nature of this disease and the potential short- and long-term toxicity of these regimens, especially in children, alternative non-cytotoxic interventions have been investigated. Molecularly targeted agents such as tyrosine kinase and gamma secretase inhibitors have shown activity against DT. Innovative local control therapies are being employed as alternatives to surgery and radiation. Periods of prolonged stability and spontaneous regression in the absence of therapy in some patients has prompted wider adoption of an upfront active surveillance approach in the appropriate setting. This review will briefly summarize the epidemiology, pathophysiology, and clinical presentation of DT in children, then focus on historical, current, and future pharmacotherapeutic management and finally, propose areas for future study.

硬纤维瘤 (DT) 是一种罕见的成纤维细胞软组织肿瘤，不会转移，但会侵袭性浸润组织，导致严重的慢性不适和/或功能障碍。在儿科人群中，DT 的发病率在婴儿期和青春期最高，但可以发生在任何年龄。β-连环蛋白失调，最常见的原因是CTNNB1或生殖系APC的突变（腺瘤性结肠息肉病）驱动 DT。大多数病例是散发的，但有些病例与易感综合征有关，例如家族性腺瘤性息肉病 (FAP)。从历史上看，治疗一直是手术。但是，手术后的复发率可能很高。用于其他软组织肉瘤的各种全身性细胞毒性化疗方案已应用于 DT，但结果不同。鉴于这种疾病的慢性和很少危及生命的性质以及这些方案的潜在短期和长期毒性，特别是在儿童中，已经研究了替代的非细胞毒性干预措施。分子靶向药物如酪氨酸激酶和γ分泌酶抑制剂已显示出对 DT 的活性。创新的局部控制疗法正被用作手术和放射治疗的替代方案。一些患者在没有治疗的情况下长期稳定和自发消退，这促使在适当的环境中更广泛地采用预先主动监测方法。本综述将简要总结儿童 DT 的流行病学、病理生理学和临床表现，然后重点关注历史、当前和未来的药物治疗管理，最后提出未来研究的领域。