期刊
DIAGNOSTICS
卷 12, 期 7, 页码 -出版社
MDPI
DOI: 10.3390/diagnostics12071737
关键词
endometrial cancer; microsatellite instability; immunohistochemistry; illumina sequencing
资金
- program the Minister of Education and Science called Regional Initiative of Excellence in the years 2019-2022 [024/RID/2018/19]
This study analyzed the potential genes involved in the development of endometrial cancer in the Polish population and confirmed the key role of TP53 mutation in high-grade endometrial cancer, as well as the significance of FGFR2 mutation. Additionally, the study presented a wide range of mutations and polymorphism in endometrial cancer.
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.
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