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Concurrent POLE hotspot mutations and mismatch repair deficiency/microsatellite instability in endometrial cancer: A challenge in molecular classification.

Gynecologic oncology - 1 Dec 2024

Moufarrij Sara, Gazzo Andrea, Rana Satshil, Selenica Pier, Abu-Rustum Nadeem R, Ellenson Lora H, Liu Ying L, Weigelt Britta, Momeni-Boroujeni Amir

Abstract excerpt

OBJECTIVE: Endometrial carcinoma (EC) has different molecular subtypes associated with varied prognosis. We sought to characterize the molecular features of ECs with POLE hotspot mutations and concurrent mismatch repair (MMR) deficiency/high microsatellite instability (MSI). METHODS: We identified POLE-mutated (POLEmut), MMR-deficient (MMRd)/MSI-high (MSI-H), or combined POLEmut/MMRd ECs subjected to clinical...

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PMID: 39276497
DOI: 10.1016/j.ygyno.2024.09.008

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POLE

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