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Wnt targets genes are not differentially expressed in desmoid tumors bearing different activating β-catenin mutations
Milea J M Timbergen1, Matthijs L Janssen2, Cornelis Verhoef2
1Department of Surgical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center Rotterdam, the Netherlands; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center Rotterdam, the Netherlands.
Introduction:
Sporadic desmoid-type fibromatosis (DTF) is a rare soft tissue tumor of mesenchymal origin. It is characterized by local invasive growth and unpredictable growth behavior. Three distinct mutations involving the CTNNB1 (β-catenin) gene have been identified in the vast majority of DTF tumors, which cause activation of the Wnt signaling pathway and impact prognosis. This study examines whether the different CTNNB1 mutants (T41A, S45F) occurring in DTF tumors differentially affect Wnt signaling activity, which might explain the different disease course between DTF patients harboring different CTNNB1 mutations.
Materials And Methods:
Real-time polymerase chain reaction (RT-PCR) on 61 formalin fixed paraffin embedded DTF samples with known CTNNB1 status was used to measure the relative mRNA expression level of Wnt target genes AXIN2, DKK1 and CCND1. Additionally, publicly available mRNA expression data retrieved from the Gene Expression Omnibus of 128 DTF samples were used for an unsupervised cluster analyses based on the expression of a selection of Wnt targets.
Results:
No statistically significant difference in relative expression levels of Wnt target genes AXIN2, DKK1 and CCND1 was identified between either CTNNB1 wild-type, S45F or T41A mutated DTF samples. Moreover, the hierarchical cluster analyses using selected Wnt targets did not discriminate between different CTNNB1 mutation types.
Conclusions:
No differences in the expression levels of Wnt target genes were observed between the different CTNNB1 mutation types in DTF tumors. Further studies are needed to decipher the mechanism accounting for the diverse disease courses between DTF patients with different CTNNB1 variants.
Insights
Different CTNNB1 mutations in desmoid-type fibromatosis (DTF) do not alter Wnt signaling pathway activity. This suggests other factors influence the varied disease progression observed in DTF patients with distinct CTNNB1 variants.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Sporadic desmoid-type fibromatosis (DTF) is a rare, locally invasive soft tissue tumor.
- CTNNB1 gene mutations are common in DTF, activating the Wnt signaling pathway and affecting prognosis.
- Specific CTNNB1 mutations (T41A, S45F) are found in DTF, but their differential impact on Wnt signaling is unclear.
Purpose of the Study:
- To investigate if distinct CTNNB1 mutations (T41A, S45F) in DTF tumors differentially affect Wnt signaling activity.
- To explore potential explanations for the varying clinical courses of DTF patients based on their CTNNB1 mutation status.
Main Methods:
- Real-time PCR (RT-PCR) was used to measure Wnt target gene mRNA expression (AXIN2, DKK1, CCND1) in 61 DTF samples.
- Publicly available gene expression data from 128 DTF samples were analyzed using unsupervised clustering based on Wnt target gene expression.
Main Results:
- No significant differences in AXIN2, DKK1, or CCND1 mRNA expression were found between wild-type, S45F, or T41A CTNNB1 mutated DTF samples.
- Hierarchical clustering analysis of Wnt target genes did not differentiate between the various CTNNB1 mutation types in DTF.
Conclusions:
- The specific CTNNB1 mutation type (T41A vs. S45F) does not appear to influence Wnt signaling pathway activity in DTF tumors.
- Further research is required to elucidate the mechanisms underlying the diverse clinical behaviors observed in DTF patients with different CTNNB1 variants.
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