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TP53和FGFR2在子宫内膜癌治疗进展中的作用

The Roles of TP53 and FGFR2 in Progress Made Treating Endometrial Cancer.

作者信息

Adamczyk-Gruszka Olga, Horecka-Lewitowicz Agata, Strzelecka Agnieszka, Wawszczak-Kasza Monika, Gruszka Jakub, Lewitowicz Piotr

机构信息

Department of Gynecology and Obstetrics, Collegium Medicum, Jan Kochanowski University, 25-369 Kielce, Poland.

Department of Obstetrics and Gynecology, Province Hospital, 25-369 Kielce, Poland.

出版信息

Diagnostics (Basel). 2022 Jul 18;12(7):1737. doi: 10.3390/diagnostics12071737.

Abstract

The morbidity and mortality caused by endometrial cancer (EC) is still rising worldwide. In recent years, a new system of tumor stratification has been proposed based on POLE-mutational status, TP53, and microsatellite stability status. The aim of the study was to analyze a vast panel on the genes potentially involved in the genesis of endometrial cancer in the Polish population. One hundred and three white female patients with confirmed endometrial cancer were enrolled on the study. We performed sequencing using the Hot Spot Illumina panel and microsatellite stability with immunohistochemistry. We confirmed a key role of the TP53 mutation in progress to high-grade EC and parallelly some role of FGFR2 mutation. Moreover, our data present a vast landscape of mutations in EC and their polymorphism. We reported the meaning of FGFR2 mutation and TP53 (high copy number) in high-grade ECs. Our observation in MSI contribution is comparable with other studies. Finally, we see a strong need for the implementation of the TCGA classification.

摘要

子宫内膜癌(EC)所致的发病率和死亡率在全球范围内仍在上升。近年来,基于POLE突变状态、TP53和微卫星稳定性状态提出了一种新的肿瘤分层系统。本研究的目的是分析波兰人群中大量可能参与子宫内膜癌发生的基因。103例确诊为子宫内膜癌的白人女性患者纳入本研究。我们使用热点Illumina面板进行测序,并通过免疫组织化学检测微卫星稳定性。我们证实了TP53突变在进展为高级别EC中的关键作用,同时也证实了FGFR2突变的一些作用。此外,我们的数据展示了EC中大量的突变情况及其多态性。我们报道了FGFR2突变和TP53(高拷贝数)在高级别EC中的意义。我们对微卫星高度不稳定(MSI)作用的观察结果与其他研究相当。最后,我们强烈认为有必要实施癌症基因组图谱(TCGA)分类。

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