Prognostic significance of CTNNB1 mutation in recurrence of sporadic desmoid tumors

Lay abstract Aim: Desmoid tumor (DT) is a rare, locally aggressive benign neoplasm with a high recurrence rate. The majority of cases have mutations in the CTNNB1 gene, but whether these mutations are associated with the risk of recurrence is still unclear. The goal of this study was to evaluate the association between CTNNB1 mutation and recurrence in surgically treated DT patients. Methods: Literature databases were systematically searched with a focus on risk of recurrence. The number of patients with CTNNB1 mutations and the number of recurrences they developed were recorded and compared, to establish whether any of the mutations was associated with a higher recurrence risk. Results: A total of eight studies were identified, including 637 patients. DTs with the mutation S45F were more likely to recur than those with no mutation or other mutations. There were no statistically significant differences in recurrence rate between non-mutated DTs and those with the mutation T41A or other mutations. Conclusions: Among mutations in the gene CTNNB1, the S45F mutation is a high-risk factor for recurrence of DT and may be a predictive marker for the recurrence of sporadic desmoid tumors. Aim: Desmoid tumor (DT) is a rare, locally aggressive benign neoplasm with a high recurrence rate. The majority of sporadic DTs are associated with mutations in CTNNB1, but whether CTNNB1 mutations are associated with the risk of DT recurrence remains unclear. The goal of this meta-analysis was to evaluate the association between CTNNB1 mutation and recurrence in surgically treated DT patients. Methods: PubMed, Embase and Cochrane library were systematically searched. The outcome of interest was the risk of recurrence. The number of patients with CTNNB1 mutation and the number of recurrences they developed were recorded and compared. The quality of these studies was assessed using the Newcastle-Ottawa Quality Assessment Scale. Odds ratios and variances were calculated and pooled. Results: A total of eight studies were identified including 637 patients. S45F-mutated DTs were more likely to recur compared with wild type, T41A and other mutated DTs. However, there were no statistically significant differences in the rate of recurrence between wild type and T41A mutation or other mutation. Conclusions: Among CTNNB1 mutations, the mutation S45F is a high-risk factor for recurrence of DT and may be a predictive marker for the recurrence of sporadic DT.

Automated summary

Desmoid tumor (DT) is a rare, locally aggressive benign neoplasm with a high recurrence rate, often associated with CTNNB1 mutations. Among CTNNB1 mutations, the S45F mutation is a high-risk factor for recurrence of DT, while the T41A mutation and other mutations show no significant differences in recurrence rates.