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子宫内膜癌 POLE 核酸外切酶结构域突变:一例报告

英文原题:POLE exonuclease domain mutations in endometrial carcinoma: a case report.

查看英文原题

POLE exonuclease domain mutations in endometrial carcinoma: a case report.

PubMed 2023/05/22(内容时间) Pathologica Q2 · IF 2.8(JCR 2025)

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中文摘要

携带 POLE 核酸外切酶结构域突变的子宫内膜癌(EC)占 EC 的 5-15%,常累及体重指数(BMI)较低的年轻女性。它表现为早期的高级别子宫内膜样组织学类型,伴有大量TIL(肿瘤浸润淋巴细胞),临床结局良好,预后有利。本文我们报告一例 32 岁女性子宫内膜样 EC(EEC),其呈现“超突变”分子特征,尽管肿瘤大小和分级如何,预后极佳。在此,强调确定 EC 中 POLE 状态对患者临床和治疗意义的重要性。

展开英文摘要原文

Endometrial carcinoma (EC) harboring POLE exonuclease domain mutations occurs in 5-15% of ECs and frequently affects young women with low body mass index (BMI). It presents at early stage as high grade endometrioid histotype with intense tumor infiltrating lymphocytes and has good clinical outcomes and favorable prognosis. In this article we report the case of a 32-year-old woman with endometriod EC (EEC) exhibiting a "ultramutated" molecular profile and an excellent prognosis despite tumor size and grading.

Herein, to highlight the importance of defining POLE status in ECs for both clinical and therapeutic implications for patients.

论文信息

作者
Pasciuto MP、Felicioni L、Zampacorta C、Ferro B、Di Marino P、Primavera FC、Lucidi A、Rossetti R
单位
Center for Advanced Studies and Technology (CAST), University Chieti-Pescara, Italy.Italy
文献类型
病例报告
期刊
Pathologica2023 May
原文标识
PubMed 37216304 · DOI 10.32074/1591-951X-872