Cranial Maxillofac Trauma Reconstruction 2019; 12(02): 146-149
DOI: 10.1055/s-0038-1676078
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

Gary Liu
1  Department of Plastic Surgery, Baylor College of Medicine, Houston, Texas
3  Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas
,
Howard L. Weiner
2  Department of Neurosurgery, Baylor College of Medicine, Houston, Texas
,
William C. Pederson
1  Department of Plastic Surgery, Baylor College of Medicine, Houston, Texas
,
Lesley Davies
1  Department of Plastic Surgery, Baylor College of Medicine, Houston, Texas
,
Edward P. Buchanan
1  Department of Plastic Surgery, Baylor College of Medicine, Houston, Texas
› Author Affiliations
Further Information

Publication History

14 August 2018

13 October 2018

Publication Date:
16 November 2018 (online)

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.