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[伴有POLE、TP53基因变异及微卫星不稳定性的子宫内膜腺癌]

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

作者信息

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

机构信息

Medical Institute named after Berezin Sergey, St. Petersburg, Russia.

Eurasian Federation of Oncology, Moscow, Russia.

出版信息

Arkh Patol. 2024;86(6):58-62. doi: 10.17116/patol20248606158.

Abstract

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: -mutated, MMR deficient (dMMR), -aberrant and unspecified. Endometrial cancer samples belonging to the dMMR and -mutant types are characterized by specific genetic profiles reflecting the hyper- and ultramutant phenotypes of the tumor. At the same time -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 -aberrant, MMR deficient and -mutated subtypes.

摘要

癌症基因组图谱计划(TCGA,2013年)制定的子宫内膜癌分子分类目前在妇科肿瘤学中得到了积极应用。据此,子宫内膜癌分为四种分子亚型:错配修复缺陷(dMMR)型、微卫星高度不稳定(MSI-H)型、异常型和未明确型。属于dMMR和MSI-H型的子宫内膜癌样本具有特定的基因特征,反映了肿瘤的高突变和超突变表型。同时,MSI-H型子宫内膜癌复发罕见,预后良好。在此,我们报告一例65岁女性子宫内膜样癌的罕见病例,该病例具有异常型、dMMR型和MSI-H型亚型的免疫组化和分子特征。

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