子宫内膜腺癌伴POLE、TP53基因突变和微卫星不稳定性。

Q4 Medicine

Arkhiv patologii Pub Date : 2024-01-01 DOI:10.17116/patol20248606158

A A Chernev, E D Kravtcova, V M Nechushkina, R H Abasov, M L Filipenko, A E Druy, G A Raskin

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引用次数: 0

摘要

cancer Genome Atlas project （TCGA, 2013）开发的子宫内膜癌分子分类目前积极应用于妇科肿瘤。据此，子宫内膜癌可分为四种分子亚型：pole突变型、MMR缺陷型（dMMR）、tp53异常型和未明确亚型。属于dMMR和pole突变型的子宫内膜癌样本具有反映肿瘤超突变和超突变表型的特定遗传谱的特征。同时，极突变子宫内膜癌复发少，预后好。我们报告一例罕见的65岁女性子宫内膜样癌患者，具有tp53异常、MMR缺陷和pole突变亚型的免疫组织化学和分子特征。

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[Endometrial adenocarcinoma with mutations in POLE, TP53 genes and microsatellite instability].

The molecular classification of endometrial cancer developed by The Cancer Genome Atlas project (TCGA, 2013) is currently actively used in gynecological oncology. According to it, endometrial carcinoma is divided into four molecular subtypes: POLE-mutated, MMR deficient (dMMR), TP53-aberrant and unspecified. Endometrial cancer samples belonging to the dMMR and POLE-mutant types are characterized by specific genetic profiles reflecting the hyper- and ultramutant phenotypes of the tumor. At the same time POLE-mutated endometrial carcinomas recur rarely and exhibit the excellent prognosis. Here we report the rare case of 65 y.o. female patient with endometrioid carcinoma sharing immunohistochemical and molecular features of TP53-aberrant, MMR deficient and POLE-mutated subtypes.

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来源期刊

Arkhiv patologii Medicine-Pathology and Forensic Medicine

CiteScore

0.90

自引率

0.00%

发文量

期刊介绍： The journal deals with original investigations on pressing problems of general pathology and pathologic anatomy, newest research methods, major issues of the theory and practice as well as problems of experimental, comparative and geographic pathology. To inform readers latest achievements of Russian and foreign medicine the journal regularly publishes editorial and survey articles, reviews of the most interesting Russian and foreign books on pathologic anatomy, new data on modern methods of investigation (histochemistry, electron microscopy, autoradiography, etc.), about problems of teaching, articles on the history of pathological anatomy development both in Russia and abroad.