β-catenin S45F mutation results in apoptotic resistance

Oncogene. 2020 Aug;39(34):5589-5600. doi: 10.1038/s41388-020-1382-5. Epub 2020 Jul 10.

Abstract

Wnt/β-catenin signaling is one of the key cascades regulating embryogenesis and tissue homeostasis; it has also been intimately associated with carcinogenesis. This pathway is deregulated in several tumors, including colorectal cancer, breast cancer, and desmoid tumors. It has been shown that CTNNB1 exon 3 mutations are associated with an aggressive phenotype in several of these tumor types and may be associated with therapeutic tolerance. Desmoid tumors typically have a stable genome with β-catenin mutations as a main feature, making these tumors an ideal model to study the changes associated with different types of β-catenin mutations. Here, we show that the apoptosis mechanism is deregulated in β-catenin S45F mutants, resulting in decreased induction of apoptosis in these cells. Our findings also demonstrate that RUNX3 plays a pivotal role in the inhibition of apoptosis found in the β-catenin S45F mutants. Restoration of RUNX3 overcomes this inhibition in the S45F mutants, highlighting it as a potential therapeutic target for malignancies harboring this specific CTNNB1 mutation. While the regulatory effect of RUNX3 in β-catenin is already known, our results suggest the possibility of a feedback loop involving these two genes, with the CTNNB1 S45F mutation downregulating expression of RUNX3, thus providing additional possible novel therapeutic targets for tumors having deregulated Wnt/β-catenin signaling induced by this mutation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abdominal Neoplasms / genetics*
  • Abdominal Neoplasms / metabolism
  • Abdominal Neoplasms / pathology
  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / metabolism
  • Adenomatous Polyposis Coli / pathology
  • Apoptosis / genetics*
  • Cell Line, Tumor
  • Core Binding Factor Alpha 3 Subunit / genetics*
  • Core Binding Factor Alpha 3 Subunit / metabolism
  • Down-Regulation
  • Fibromatosis, Aggressive / genetics*
  • Fibromatosis, Aggressive / metabolism
  • Fibromatosis, Aggressive / pathology
  • Gene Expression Profiling / methods
  • Gene Expression Regulation, Neoplastic
  • HEK293 Cells
  • Humans
  • Mutation, Missense*
  • Wnt Signaling Pathway / genetics*
  • beta Catenin / genetics*
  • beta Catenin / metabolism

Substances

  • Core Binding Factor Alpha 3 Subunit
  • beta Catenin

Supplementary concepts

  • Desmoid disease, hereditary