| Purpose To investigate the clinical significance of CTNNB1 gene mutation in the prognostic evaluation of low-copy endometrial carcinoma (CN-L). Methods TCGA and PanCancer Atlas databases were used to analyze the differential expression of CTNNB1 gene mutation in CN-L tissues and its correlation with clinicopathological features and prognosis. Next generation sequencing (NGS) technology and immunohistochemistry were used to detect the expression and mutation status of CTNNB1 gene in 27 CN-L patients, and to explore the factors affecting the prognosis and CTNNB1 mutation. Results TCGA and PanCancer Atlas database analysis showed that the expression of CTNNB1 mutant in CN-L was increased at mRNA level, but decreased at protein level. The progression-free survival (PFS) and overall survival (OS) of patients with CTNNB1 mutation were shortened by 24.1 months and 19.5 months, respectively. COX univariate analysis showed that poor prognosis was significantly correlated with pathological grade (P<0.05). At the same time, age and CTNNB1 mutation were positively correlated with the risk of death in CN-L patients (HR>1). In addition, CTNNB1 mutation is related to age and radiotherapy history of patients, and may be correlated with pathological grade. The mutation rate of CTNNB1 gene in 27 CN-L patients was as high as 63.0%, mainly involving exons 9 and 15. Patients with CTNNB1 mutations had reduced protein expression and slightly shorter OS. Meanwhile, the PFS and OS of patients with CTNNB1 mutation were shortened by 13.9 months and 1.2 months, respectively. COX analysis showed that clinical stage was significantly positively correlated with the death risk of CN-L patients (P<0.05), while CTNNB1 mutation, pathological grade and adjuvant therapy may be positively correlated with the death risk of CN-L patients (HR>1). Conclusion CTNNB1 mutation may be related to the occurrence and recurrence of CN-L patients, and may have an important impact on the prognosis of CN-L patients. |
