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Objective: This study aimed to identify an optimal screening strategy to detect mismatch repair (MMR) mutation for each histologic subtype of endometrial carcinoma. Material and methods: We performed a comparative analysis of the demographic, clinical, pathologic, and molecular data for 562 patients from The Cancer Genome Atlas database, stratified by tumor histologic subtype.Results: Molecular data, including MLH1, MLH3, PMS1, PMS2, MSH2, MSH3, MSH6, and EPCAM, was available for 562 patients, of which 162 (28.8%) had tumors that were positive for MMR gene mutations. Of these tumors, the penetrate rate of grade 3 endometrioid endometrial carcinoma (84/184, 45.7%) was significantly higher than that of uterine serous carcinoma (35/156, 22.4%) (p < 0.001), grade 2 endometrioid endometrial carcinoma (26/129, 20.2%) (p < 0.001), and grade 1 endometrioid endometrial carcinoma (17/93, 18.3%) (p < 0.001). Of 562 endometrial carcinomas, alterations in MSH2 (n = 55), MSH6 (n = 54), and MSH3 (n = 50) were the most frequent mutations. There were no differences in overall survival and progression-free interval (PFI) between MMR mutation carriers and nonmutation carriers (p >0.05) except that PFI with MMR gene mutation was higher than with MMR proficiency in grade 3 endometrioid endometrial carcinoma (p = 0.014). Conclusions: Grade 3 endometrioid endometrial carcinoma harbored more MMR mutations than grade 1 endometrioid endometrial carcinoma, grade 2 endometrioid endometrial carcinoma, and uterine serous carcinoma. Besides MLH1, MSH2, MSH6, PMS2, and EPCAM mutation, MLH3, MSH3, and PMS1 mutation may be necessary to be screened in patients with newly diagnosed endometrial carcinoma. |
