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The prognostic implication of polymerase epsilon‑mutated endometrial cancer

Kai‑Hung Wanga, Dah‑Ching Dingb,c*

aDepartment of Medical Research, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan, bDepartment of Obstetrics and Gynecology, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation and Tzu Chi University, Hualien, Taiwan, cInstitute of Medical Sciences, College of Medicine, Tzu Chi University, Hualien, Taiwan

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Open Access funded by Buddhist Compassion Relief Tzu Chi Foundation

 

Abstract
 
The traditional classification and risk stratification systems of endometrial cancer (EC), which relied on histomorphological features, were limited and poor reproducible. The classification of new molecular subtypes of EC has been developing, including The Cancer Genome Atlas (TCGA)‑four molecular subtypes: Polymerase epsilon (POLE) mutation (POLEmut), microsatellite instability hypermutated, copy number‑low, and copy number‑high and ProMisE‑four molecular subtypes: POLEmut, mismatch repair deficiency, no specific molecular profile, and p53 abnormal. POLEmut usually correlates with a favorable outcome. Hence, we reviewed the research since the TCGA molecular subtypes developed in 2013 and summarized the characteristics and prognosis of POLEmut EC patients. In summary, we found POLEmut occurs in 7.3%–9.6% of EC in the previous studies. POLEmut EC consistently exhibits favorable patient outcomes, regardless of adjuvant therapy. The research of POLEmut in EC is absent in Taiwan, and the underlying mechanisms and cost‑effectiveness need further investigation.

 

Keywords: Endometrial cancer, Mismatch repair deficiency, No specific molecular profile, p53, Polymerase epsilon mutation

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