Clinicopathological and molecular features of endometrial carcinoma with POLE pathogenic mutations
CAI Yu-meng
ZHOU Yang
WANG Hao
PANG Jun-yi
WU Huan-wen
SHI Xiao-hua
LIANG Zhi-yong
Abstract：Objective To investigate the clinicopathological and molecular features of endometrial carcinoma with POLE pathogenic mutations.Methods One hundred and seventy-nine cases of endometrial carcinoma(EC)were selected.According to the POLE gene mutation status,mismatch repair(MMR)protein expression and p53 expression/TP53 mutation,all cases were divided into four molecular subtypes.This study focused on analyzing the clinicopathological and molecular features of POLE mut type.Results Twenty cases were POLE mut type,48 were MMRd type,90 were NSMP type,and 21 were p53 abn type.POLE mut type was mostly FIGO stage Ⅰ(17/20),moderately-poorly differentiated EC(13/20),limited to endometrium or superficial muscle layer(17/20),significant tumor infiltrating lymphocytes(TIL)(17/20),no or focal LVSI(18/20),without lymph node metastasis(19/20).All clinicalpathological features were statistically different among the 4 subgroups.Survival analysis showed that POLE mut had the best prognosis.The prognosis(PFS)of cases with multiple classification characteristics was closer to that of POLE mut type.Conclusion POLE mut EC often indicates higher histological grade,earlier clinical stage and better prognosis;dMMR/MSI-H phenotype and p53/TP53 abnormal can be secondary to POLE pathogenic mutations,and its clinicopathological and prognostic features are similar to POLE mut type.
Keywords：Endometrial carcinomaMolecular classificationPOLEMismatch repair deficiencyTP53
Publication Date：2024-04-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 282-286,322 )