The Expression and Prognostic Significance of Idh1-R132h Mutation in Endometrial Carcinoma

OBJECTIVE: Isocitrate dehydrogenases (IDHs) are rate-limiting enzymes in the intracellular tricarboxylic acid (TCA) cycle. IDH1/2 mutation may have an oncogenic effect and has also enabled the discovery of new therapeutic approaches for treating changes caused by this mutation. Genetic alterations and changes in DNA methylation are known to contribute to the pathogenesis of endometrial cancer. Still, there is no information yet about a relationship between IDH 1 mutation and endometrial cancer. In this study, aimed to evaluate the frequency of IDH1 mutations in endometrial cancer and its effect on prognosis. MATERIAL AND METHODS: For this study, we reviewed the files of 150 patients diagnosed with endometrial cancer who were treated and monitored between January 2012 and December 2020. 104 patients had adequate tumor tissue available in the pathology laboratory. The IDH-R132H mutation was assessed using immunohistochemistry. The primary endpoints were defined as overall survival (OS) and event-free survival (EFS). RESULTS: The study included 104 patients diagnosed with endometrial cancer. The patients expressing mutant IDH had a significantly higher rate of stage 4 disease (p=0.008), distant metastasis (p=0.034), and recurrence (p=0.037). The 3-year and 5-year event-free survival rates were significantly shorter in this group, with a p-value of 0.044. CONCLUSIONS: This is the first study showing that the IDH1-R132H mutation can be detected in patients with endometrial cancer. Our findings indicate that this mutation is a poor prognostic factor for these patients. We believe that the results of our study will form the basis of treatment studies targeting this mutation in endometrial cancer patients with the IDH1-R132H mutation.