Garcia-Ortega Dorian Yarih, Martín-Tellez Karla Susana, Cuellar-Hubbe Mario, Martínez-Said Héctor, Álvarez-Cano Alethia, Brener-Chaoul Moises, Alegría-Baños Jorge Adán, Martínez-Tlahuel Jorge Luis
National Cancer Institute (Instituto Nacional de Cancerologia), Mexico City 14080, Mexico.
Hospital Angeles de las Lomas, Huixquilucan, Estado de Mexico 52763, Mexico.
Cancers (Basel). 2020 Jul 9;12(7):1851. doi: 10.3390/cancers12071851.
Desmoid tumors represent a rare entity of monoclonal origin characterized by locally aggressive behavior and inability to metastasize. Most cases present in a sporadic pattern and are characterized by a mutation in the CTNNB1 gene; while 5-15% show a hereditary pattern associated with APC gene mutation, both resulting in abnormal β-catenin accumulation within the cell. The most common sites of presentation are the extremities and the thoracic wall, whereas FAP associated cases present intra-abdominally or in the abdominal wall. Histopathological diagnosis is mandatory, and evaluation is guided with imaging studies ranging from ultrasound, computed tomography or magnetic resonance. Current approaches advocate for an initial active surveillance period due to the stabilization and even regression capacity of desmoid tumors. For progressive, symptomatic, or disabling cases, systemic treatment, radiotherapy or surgery may be used. This is a narrative review of this uncommon disease; we present current knowledge about molecular pathogenesis, diagnosis and treatment.
硬纤维瘤是一种罕见的单克隆起源的实体瘤，具有局部侵袭性且无转移能力。大多数病例呈散发性，其特征是CTNNB1基因突变；而5%-15%的病例表现为与APC基因突变相关的遗传模式，两者均导致细胞内β-连环蛋白异常积累。最常见的发病部位是四肢和胸壁，而与家族性腺瘤性息肉病（FAP）相关的病例则发生在腹腔内或腹壁。组织病理学诊断是必要的，评估需借助超声、计算机断层扫描或磁共振成像等影像学检查。由于硬纤维瘤具有稳定甚至消退的能力，目前的治疗方法主张首先进行积极监测期。对于进展性、有症状或致残的病例，可采用全身治疗、放疗或手术。这是一篇关于这种罕见疾病的叙述性综述；我们介绍了有关分子发病机制、诊断和治疗的当前知识。
