Pole Mutations And Mmr In Endometrioid Carcinoma From A Clinical Perspective
Abstract
Endometrial carcinoma (EC) is the most prevalent gynecological cancer globally and ranks as the sixth leading cause of cancer-related deaths among women. Polymerase epsilon (POLE) mutations are linked to a high Tumor Mutation Burden (TMB) in endometrioid carcinoma. POLE-mutated tumors typically maintain Microsatellite Stability (MSS), despite their high TMB. This review aims to explore the association between POLE mutations, mismatch repair (MMR) status, and their clinical implications in guiding diagnosis and treatment strategies. Findings indicate that POLE-mutated tumors generally show excellent prognosis and enhanced responsiveness to immunotherapy, such as pembrolizumab, with response rates reported around 36% in MSI-H tumors. In conclusion, molecular classification based on POLE and MMR provides more accurate prognostic stratification and supports personalized treatment approaches in EC.
Keywords: Endometrial Carcinoma (EC), POLE mutations, Tumor Mutation Burden (TMB), Microsatellite Stability (MSS), Mismatch Repair (MMR)
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DOI: https://doi.org/10.18585/ijbcs.v1i3.18
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