Liu Gary, Weiner Howard L, Pederson William C, Davies Lesley, Buchanan Edward P
Department of Plastic Surgery, Baylor College of Medicine, Houston, Texas.
Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas.
Craniomaxillofac Trauma Reconstr. 2019 Jun;12(2):146-149. doi: 10.1055/s-0038-1676078. Epub 2018 Nov 16.
Gain-of-function mutations in the beta-catenin gene ( ) drive genomic instability within different cancers. However, it is unclear whether alterations in beta-catenin signaling can still lead to chromosomal rearrangements in neoplasms without metastatic potential. Here, we report a unique case, whereby a desmoid tumor of the scalp contains a missense mutation in . This mutation is located at the T41 phosphorylation site-previously reported to be necessary for proper beta-catenin degradation. Online database analysis then revealed that our mutation is likely causative of many different cancers and also absent in the healthy public. Karyotyping of the desmoid tumor cells then showed complex chromosomal changes in 16 out of 20 cells examined. To treat this patient, we surgically removed both the neoplasm and underlying calvarium and then successfully reconstructed the skull and scalp. Taken together, our data suggest that increased beta-catenin signaling can lead to genomic instability in the absence of metastatic potential.
β-连环蛋白基因中的功能获得性突变驱动不同癌症中的基因组不稳定。然而，尚不清楚β-连环蛋白信号通路的改变是否仍会在无转移潜能的肿瘤中导致染色体重排。在此，我们报告了一个独特病例，头皮硬纤维瘤在[此处原文缺失相关基因名称]中存在错义突变。该突变位于T41磷酸化位点，此前报道该位点对于β-连环蛋白的正常降解是必需的。在线数据库分析随后显示，我们发现的突变可能是许多不同癌症的病因，且在健康人群中不存在。硬纤维瘤细胞的核型分析显示，在检测的20个细胞中有16个出现了复杂的染色体变化。为治疗该患者，我们通过手术切除了肿瘤及下方的颅骨，然后成功重建了颅骨和头皮。综上所述，我们的数据表明，在没有转移潜能的情况下，β-连环蛋白信号增加可导致基因组不稳定。
