Tayeb Tayeb Cherif, Parc Yann, Andre Thierry, Lopez-Trabada Ataz Daniel
Hôpital Saint-Antoine, service d'oncologie médicale, 184, rue Faubourg Saint-Antoine, 75012 Paris, France.
Hôpital Saint-Antoine, service de chirurgie viscérale, 184, rue Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Université, Paris, France.
Bull Cancer. 2020 Mar;107(3):352-358. doi: 10.1016/j.bulcan.2019.10.011. Epub 2019 Dec 24.
About 15 % of patients with familial adenomatous polyposis "PAF" develop one or more desmoid tumors in their lifetime. These are benign mesenchymal tumors with local aggressivity but with no potential for metastases. Most of the desmoids tumors result from a sporadic genetic anomaly in the β catenin gene. When related to familial adenomatous polyposis or "PAF", this mutation is not present, and the patients must be sent in genetic counselling. The PAF is a dominant autosomic illness related to a germinal mutation in the APC gene. Sometimes, these tumors can be the first manifestation of the illness. The diagnosis in a context of PAF can be easily done by imaging, but a pathological confirmation is needed. These tumors raise a therapeutic problem because of their heterogeneity and the absence of predictive biomarkers along illness evolution. The identification of prognostic biological and clinical factors would make easier the selection of patients requiring first-line treatment, as spontaneous remissions have also been observed in patients with FAP whom which an active surveillance could also be a valid therapeutic option. The particularity of desmoids tumors associated to PAF lies in their predominantly intra-abdominal location and the risk of complication. In the last ten years, surgery has largely given way to conservative treatments such as chemotherapy and more recently to tyrosine kinase inhibitors that have shown their efficacy with a significant improvement in progression-free survival of patients.
约15%的家族性腺瘤性息肉病（PAF）患者在其一生中会发生一种或多种硬纤维瘤。这些是具有局部侵袭性但无转移潜能的良性间叶性肿瘤。大多数硬纤维瘤是由β连环蛋白基因的散发性基因异常引起的。当与家族性腺瘤性息肉病或“PAF”相关时，不存在这种突变，这些患者必须接受遗传咨询。PAF是一种与APC基因种系突变相关的显性常染色体疾病。有时，这些肿瘤可能是该疾病的首发表现。在PAF背景下，通过影像学检查很容易做出诊断，但需要病理证实。由于这些肿瘤的异质性以及在疾病进展过程中缺乏预测性生物标志物，它们带来了治疗难题。识别预后的生物学和临床因素将使选择需要一线治疗的患者变得更容易，因为在FAP患者中也观察到了自发缓解，对他们进行积极监测也可能是一种有效的治疗选择。与PAF相关的硬纤维瘤的特殊性在于其主要位于腹腔内以及存在并发症风险。在过去十年中，手术在很大程度上已被化疗等保守治疗方法取代，最近又被酪氨酸激酶抑制剂取代，酪氨酸激酶抑制剂已显示出其疗效，患者的无进展生存期有显著改善。
