Clinicopathological Analysis of a Group of Patients Diagnosed with Endometrial Cancer and Mutation in the Tp53 Gene—Single-Center Study

TL;DR

This study examines endometrial cancer patients with TP53 gene mutations, finding they often have aggressive tumors and advanced disease stages.

Contribution

The study identifies clinicopathological patterns in TP53-mutated endometrial cancer and highlights the importance of molecular profiling for prognosis.

Findings

TP53-mutated endometrial cancers are associated with aggressive features like high-grade tumors and lymphovascular invasion.

30% of patients were upstaged under the FIGO 2023 classification when TP53 mutation status was considered.

Coexisting PIK3CA mutations were found in 30% of TP53-mutated cases.

Abstract

Background/Objectives: Endometrial cancer (EC) remains a significant clinical challenge due to increasing incidence and mortality, particularly among patients with TP53 gene mutations, which define a high-risk molecular subtype. This study aimed to characterize the clinicopathological and molecular features of a cohort of patients diagnosed with endometrial cancer and confirmed TP53 mutations. Methods: This retrospective single-center study analyzed 20 patients with histologically confirmed EC and pathogenic TP53 mutations treated at the Pomeranian Medical University Clinical Hospital No. 2 between January 2023 and March 2025. Clinical, histological, and molecular data—including FIGO stage, tumor grade, and coexisting mutations—were collected. Results: Patients had a mean age of 69.2 years and a mean BMI of 29.5 kg/m2. The most common histological types were endometrioid (45%) and serous carcinoma (40%). Grade 3 tumors were found in 65% of cases, and 65% of patients exhibited lymphovascular space invasion. Notably, 30% of patients were upstaged under the FIGO 2023 classification when incorporating TP53 mutation status. Four patients had coexisting PIK3CA mutations. No significant differences were observed in BMI, endometrial thickness, or abnormal bleeding between histological subgroups. Conclusions: TP53-mutated endometrial cancers are associated with aggressive histopathological features and advanced staging. Molecular profiling, particularly TP53 mutation assessment, provides essential prognostic information and may inform personalized therapeutic strategies. Larger, multicenter studies are warranted to validate these findings and identify actionable molecular targets.

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