Evalution of potential arid1a and CTNNB1 mutations in molecularly classified endometrial cancer patients

Introduction: This thesis study aims to evaluate the effects of biological molecules and biomarkers on the prognosis of endometrium cancer. That's why, this study has reviewed patients with endometrial cancer who have undergone molecular classification in aspect of AT-rich interactive domain-containing protein 1A (ARID1A) ve catenin beta-1 protein (CTNNB1). Materials and Methods: This is a prospective review of 120 patients who were diagnosed with endometrial cancer at Afyonkarahisar Health Sciences University Hospital between January 2010 and January 2022. All patients underwent total abdominal or laparoscopic hysterectomy, bilateral salpingooopherectomy, infracolic omentectomy or omental biopssy, lymph node sampling and cytological sampling. Eleven patients who were diagnosed with endometrial cancer but in whom both ARID1A and CTNNB1 mutations could not be isolated were excluded from this study. Therefore, 109 patients with endometrial cancer were included. CTNNB1 mutation was isolated in all 109 patients while ARID1A mutation was isolated in 78 patients. Results: Stage 1A disease was diagnosed in 43 patients (39.4%) whereas stage 1B disease was detected in 29 patients with endometrial cancer (26.6%). Stage 2 disease was present in 7 patients (6.4%) while stage 3 disease was specified in 18 patients (16.5%) and stage 4 disease was diagnosed in 12 patients (11.1%). POLE mutation was identified in 3 patients (2.75%), p53 mutation was specified in 15 patients (13.76%), mismatch repair loss was determined in 27 patients (24.77%) and NSMP was labeled in 64 patients (58.71%). CTNNB1 mutation was detected in only one patient (0.9%) and ARID1A mutation was observed in 18 patients (16.5%). Sixty patients who had no ARID1A mutation and 18 patients diagnosed with ARID1A mutation were found to be statistically similar with respect to age, body mass index, surgery type, tumor size, histopathological type, stage, grade, myometrial invasion, lymph node involvement, collected lymph node number, lymphovascular space invasion, peritoneal cytology and cervical involvement (p>0.05 for all). The patients who had ARID1A mutation and thode who did not have ARID1A mutation were statistically similar in aspect of POLE mutation, mismatch repair loss, p53 mutation and NSMP profile (p>0.05 for all). All patients were followed up for an average of 47 months. There was no ARID1A mutation in 6 patients who had recurrence but there was no significant difference between ARID1A mutation carriers and non-carriers with respect to recurrence, overall and progresion-free survival. Sixteen deaths (20.5%) occurred during the study period. Conclusion: The findings of the present study suggest that neither ARID1A nor CTNNB1 mutations are suitable and feasible for predicting the prognosis of endometrial cancers. Moreover, these mutations have not been identifed as suitable or feasible to perform advanced staging in endometrial cancers which have been labeled as non-specific molecular profile and which have not been included in a category of molecular classification. Large scale and prospective studies have been warranted to clarify the role and clinical significance of ARID1A and CTNNB1 mutations in endometrial cancer. Keywords: Endometrial cancer; Molecular classification; Next Generation Sequencing, ARID1A, CTNNB1