Beta-Catenin Mutation with Complex Chromosomal Changes in Desmoid Tumor of the Scalp: A Case Report.

• 发表时间: Jun 2019
• 来源期刊: Craniomaxillofac Trauma Reconstr
• DOI: 10.1055/s-0038-1676078
• PMID: 31073365
• 文章类型: Case Reports
• 作者列表: Liu G,Weiner HL,Pederson WC,Davies L,Buchanan EP

关键词: CTNNB1; Desmoid Tumor; Wnt; benign cancer

Abstract

Gain-of-function mutations in the beta-catenin gene ( CTNNB1 ) 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 CTNNB1 . 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.